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Gene: PPIE (peptidylprolyl isomerase E) Homo sapiens

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Symbol:

PPIE

Name:

peptidylprolyl isomerase E

RGD ID:

1322860

HGNC Page

HGNC:9258

Description:

Enables mRNA binding activity; peptidyl-prolyl cis-trans isomerase activity; and poly(A) binding activity. Involved in mRNA splicing, via spliceosome; positive regulation of viral genome replication; and regulation of DNA-templated transcription. Located in cytosol and nuclear speck. Part of U2-type catalytic step 2 spliceosome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cyclophilin 33; cyclophilin E; cyclophilin-33; CYP-33; CYP33; CypE; MGC111222; MGC3736; peptidyl-prolyl cis-trans isomerase E; peptidylprolyl isomerase E (cyclophilin E); peptidylprolyl isomerase E, isoform 1; PPIase E; rotamase E

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ppie (peptidylprolyl isomerase E (cyclophilin E))	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ppie (peptidylprolyl isomerase E)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Ppie (peptidylprolyl isomerase E)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PPIE (peptidylprolyl isomerase E)	NCBI	Ortholog
Canis lupus familiaris (dog):	PPIE (peptidylprolyl isomerase E)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ppie (peptidylprolyl isomerase E)	NCBI	Ortholog
Sus scrofa (pig):	PPIE (peptidylprolyl isomerase E)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PPIE (peptidylprolyl isomerase E)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ppie (peptidylprolyl isomerase E)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ppie (peptidylprolyl isomerase E)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ppie (peptidylprolyl isomerase E (cyclophilin E))	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ppie (peptidylprolyl isomerase E (cyclophilin E))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	CPR1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	cyn-13	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	cyp33	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	ppie	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	ppie.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

PPIEL

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	39,692,182 - 39,763,914 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	40,204,554 - 40,229,586 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	39,977,117 - 40,002,173 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	39,873,622 - 39,888,471	NCBI
Celera	1	38,486,281 - 38,511,350 (+)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	38,323,206 - 38,348,301 (+)	NCBI		HuRef
CHM1_1	1	40,319,960 - 40,345,027 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	Charcot-Marie-Tooth disease dominant intermediate C		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C	ClinVar	PMID:28492532

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	(+)-schisandrin B	multiple interactions	ISO	Ppie (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of PPIE mRNA]	CTD	PMID:31150632
PPIE	Human	1,2-dimethylhydrazine	increases expression	ISO	Ppie (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of PPIE mRNA	CTD	PMID:22206623
PPIE	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Ppie (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of PPIE mRNA]	CTD	PMID:22206623
PPIE	Human	17alpha-ethynylestradiol	decreases expression	ISO	Ppie (Rattus norvegicus)	6480464	Ethinyl Estradiol results in decreased expression of PPIE mRNA	CTD	PMID:29097150
PPIE	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Ppie (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
PPIE	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Ppie (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of PPIE mRNA	CTD	PMID:21570461 and PMID:24680724
PPIE	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:19954255
PPIE	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PPIE mRNA	CTD	PMID:30851411
PPIE	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of PPIE mRNA	CTD	PMID:37199045
PPIE	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	Ppie (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in increased expression of PPIE mRNA	CTD	PMID:20188158
PPIE	Human	3-chloropropane-1,2-diol	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of PPIE protein	CTD	PMID:34915118
PPIE	Human	5-fluorouracil	increases expression	EXP		6480464	Fluorouracil results in increased expression of PPIE protein	CTD	PMID:16803524
PPIE	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of PPIE protein	CTD	PMID:38460933
PPIE	Human	antimycin A	increases expression	EXP		6480464	Antimycin A results in increased expression of PPIE mRNA	CTD	PMID:33512557
PPIE	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of PPIE mRNA	CTD	PMID:22378314
PPIE	Human	benzo[a]pyrene	multiple interactions	ISO	Ppie (Mus musculus)	6480464	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of PPIE mRNA]	CTD	PMID:22228805
PPIE	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of PPIE 5' UTR and Benzo(a)pyrene affects the methylation of PPIE promoter	CTD	PMID:27901495
PPIE	Human	benzo[a]pyrene	increases expression	ISO	Ppie (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of PPIE mRNA	CTD	PMID:22228805
PPIE	Human	bisphenol A	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PPIE mRNA	CTD	PMID:25181051
PPIE	Human	chlorpyrifos	decreases expression	ISO	Ppie (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of PPIE mRNA	CTD	PMID:37019170
PPIE	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of PPIE protein	CTD	PMID:16803524
PPIE	Human	clobetasol	increases expression	ISO	Ppie (Mus musculus)	6480464	Clobetasol results in increased expression of PPIE mRNA	CTD	PMID:27462272
PPIE	Human	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of PPIE mRNA	CTD	PMID:19376846
PPIE	Human	deguelin	increases expression	EXP		6480464	deguelin results in increased expression of PPIE mRNA	CTD	PMID:33512557
PPIE	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PPIE mRNA	CTD	PMID:27188386
PPIE	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of PPIE mRNA	CTD	PMID:29803840
PPIE	Human	ferroheme b	increases expression	ISO	Ppie (Mus musculus)	6480464	Heme metabolite results in increased expression of PPIE mRNA	CTD	PMID:19191707
PPIE	Human	flutamide	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	Flutamide results in increased expression of PPIE mRNA	CTD	PMID:24136188
PPIE	Human	folic acid	multiple interactions	ISO	Ppie (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of PPIE mRNA]	CTD	PMID:22206623
PPIE	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of PPIE protein	CTD	PMID:37730182
PPIE	Human	heme b	increases expression	ISO	Ppie (Mus musculus)	6480464	Heme metabolite results in increased expression of PPIE mRNA	CTD	PMID:19191707
PPIE	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of PPIE protein	CTD	PMID:32959892
PPIE	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of PPIE mRNA	CTD	PMID:23649840
PPIE	Human	nefazodone	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	nefazodone results in increased expression of PPIE mRNA	CTD	PMID:24136188
PPIE	Human	nitrates	multiple interactions	ISO	Ppie (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of PPIE mRNA	CTD	PMID:35964746
PPIE	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of PPIE protein	CTD	PMID:38460933
PPIE	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of PPIE mRNA	CTD	PMID:35430440
PPIE	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PPIE mRNA	CTD	PMID:30851411
PPIE	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of PPIE mRNA	CTD	PMID:33512557
PPIE	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PPIE mRNA	CTD	PMID:27188386
PPIE	Human	sodium arsenite	multiple interactions	EXP		6480464	sodium arsenite promotes the reaction [PPIE protein binds to CAPRIN1 protein]	CTD	PMID:33939924
PPIE	Human	tebufenpyrad	increases expression	EXP		6480464	4-chloro-N-((4-(1 and 1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide results in increased expression of PPIE mRNA	CTD	PMID:33512557
PPIE	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of PPIE mRNA	CTD	PMID:31758290
PPIE	Human	tetrachloromethane	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of PPIE mRNA	CTD	PMID:31150632
PPIE	Human	tetrachloromethane	multiple interactions	ISO	Ppie (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of PPIE mRNA]	CTD	PMID:31150632
PPIE	Human	thioacetamide	increases expression	ISO	Ppie (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of PPIE mRNA	CTD	PMID:23411599 and PMID:34492290
PPIE	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of PPIE mRNA	CTD	PMID:37042841
PPIE	Human	triptonide	increases expression	ISO	Ppie (Mus musculus)	6480464	triptonide results in increased expression of PPIE mRNA	CTD	PMID:33045310
PPIE	Human	trovafloxacin	decreases expression	ISO	Ppie (Mus musculus)	6480464	trovafloxacin results in decreased expression of PPIE mRNA	CTD	PMID:35537566
PPIE	Human	tungsten	increases expression	ISO	Ppie (Mus musculus)	6480464	Tungsten results in increased expression of PPIE mRNA	CTD	PMID:30912803
PPIE	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of PPIE mRNA	CTD	PMID:22378314
PPIE	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PPIE mRNA	CTD	PMID:25979313
PPIE	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of PPIE mRNA	CTD	PMID:23179753 and PMID:26272509
PPIE	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PPIE mRNA	CTD	PMID:27188386
PPIE	Human	Yessotoxin	decreases expression	EXP		6480464	yessotoxin analog results in decreased expression of PPIE mRNA	CTD	PMID:30679557

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	mRNA processing	involved_in	IEA	UniProtKB-KW:KW-0507	150520179		UniProt	GO_REF:0000043
PPIE	Human	mRNA splicing, via spliceosome	involved_in	IDA		150520179	PMID:28076346	UniProt	PMID:28076346
PPIE	Human	mRNA splicing, via spliceosome	involved_in	IC	GO:0071013	150520179	PMID:11991638	UniProt	PMID:11991638
PPIE	Human	positive regulation of viral genome replication	involved_in	IMP		150520179	PMID:19932913	UniProt	PMID:19932913
PPIE	Human	protein folding	involved_in	IEA	InterPro:IPR016304 and InterPro:IPR020892	150520179		InterPro	GO_REF:0000002
PPIE	Human	protein folding	involved_in	IBA	PANTHER:PTN008511653 more ...	150520179		GO_Central	GO_REF:0000033
PPIE	Human	regulation of DNA-templated transcription	involved_in	IMP		150520179	PMID:11313484	UniProt	PMID:11313484
PPIE	Human	RNA splicing	involved_in	IEA	UniProtKB-KW:KW-0508	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	catalytic step 2 spliceosome	part_of	IDA		150520179	PMID:11991638	UniProt	PMID:11991638
PPIE	Human	catalytic step 2 spliceosome	part_of	IBA	PANTHER:PTN008511669 and UniProtKB:Q9UNP9	150520179		GO_Central	GO_REF:0000033
PPIE	Human	cytoplasm	is_active_in	IBA	FB:FBgn0002936 more ...	150520179		GO_Central	GO_REF:0000033
PPIE	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
PPIE	Human	extracellular region	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6798748 and Reactome:R-HSA-6800434
PPIE	Human	ficolin-1-rich granule lumen	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6800434
PPIE	Human	intracellular membrane-bounded organelle	is_active_in	IBA	FB:FBgn0039581 more ...	150520179		GO_Central	GO_REF:0000033
PPIE	Human	nuclear speck	located_in	IDA		150520179		HPA	GO_REF:0000052
PPIE	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6782004 more ...
PPIE	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
PPIE	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
PPIE	Human	nucleus	located_in	IDA		150520179	PMID:11313484 and PMID:28076346	UniProt	PMID:11313484 and PMID:28076346
PPIE	Human	secretory granule lumen	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6798748
PPIE	Human	spliceosomal complex	part_of	IEA	UniProtKB-KW:KW-0747	150520179		UniProt	GO_REF:0000043
PPIE	Human	U2-type catalytic step 2 spliceosome	part_of	IDA		150520179	PMID:28076346	UniProt	PMID:28076346

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	cyclosporin A binding	enables	TAS		150520179	PMID:9747881	PINC	PMID:9747881
PPIE	Human	cyclosporin A binding	enables	IBA	FB:FBgn0002936 more ...	150520179		GO_Central	GO_REF:0000033
PPIE	Human	isomerase activity	enables	IEA	UniProtKB-KW:KW-0413	150520179		UniProt	GO_REF:0000043
PPIE	Human	mRNA binding	enables	IDA		150520179	PMID:18258190	UniProt	PMID:18258190
PPIE	Human	nucleic acid binding	enables	IEA	InterPro:IPR035979	150520179		InterPro	GO_REF:0000002
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	UniProtKB-KW:KW-0697	150520179		UniProt	GO_REF:0000043
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	EC:5.2.1.8	150520179		UniProt	GO_REF:0000003
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IBA	CGD:CAL0000183095 more ...	150520179		GO_Central	GO_REF:0000033
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	ARBA:ARBA00028383	150520179		UniProt	GO_REF:0000117
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	RHEA:16237	150520179		RHEA	GO_REF:0000116
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IDA		150520179	PMID:18258190 and PMID:20676357	UniProt	PMID:18258190 and PMID:20676357
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	UniRule:UR000248790	150520179		UniProt	GO_REF:0000104
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	TAS		150520179	PMID:11313484	UniProt	PMID:11313484
PPIE	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	InterPro:IPR002130 more ...	150520179		InterPro	GO_REF:0000002
PPIE	Human	poly(A) binding	enables	IDA		150520179	PMID:18258190	UniProt	PMID:18258190
PPIE	Human	protein binding	enables	IPI	UniProtKB:O60306 and UniProtKB:Q9HCS7	150520179	PMID:24981860 and PMID:33961781	IntAct	PMID:24981860 and PMID:33961781
PPIE	Human	protein binding	enables	IPI	UniProtKB:Q6Q1S2	150520179	PMID:34799561 and PMID:37100772	IntAct	PMID:34799561 and PMID:37100772
PPIE	Human	protein binding	enables	IPI	UniProtKB:P06396 and UniProtKB:P22607	150520179	PMID:32814053	IntAct	PMID:32814053
PPIE	Human	protein binding	enables	IPI	UniProtKB:Q03164	150520179	PMID:11313484 and PMID:20541251	IntAct	PMID:11313484 and PMID:20541251
PPIE	Human	protein binding	enables	IPI	UniProtKB:Q9HCS7	150520179	PMID:16189514 more ...	IntAct	PMID:16189514 more ...
PPIE	Human	protein binding	enables	IPI	UniProtKB:O60306	150520179	PMID:25599396	IntAct	PMID:25599396
PPIE	Human	RNA binding	enables	IEA	UniProtKB-KW:KW-0694	150520179		UniProt	GO_REF:0000043
PPIE	Human	RNA binding	enables	IEA	UniRule:UR000414619	150520179		UniProt	GO_REF:0000104
PPIE	Human	RNA binding	enables	IEA	InterPro:IPR000504 more ...	150520179		InterPro	GO_REF:0000002
PPIE	Human	RNA binding	enables	TAS		150520179	PMID:11313484	UniProt	PMID:11313484
PPIE	Human	RNA binding	enables	HDA		150520179	PMID:22658674	UniProt	PMID:22658674

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	spliceosome pathway		TAS		9686094		RGD
PPIE	Human	spliceosome pathway		TAS		9686376		RGD

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPIE	Human	spliceosome pathway		IEA		6907045		KEGG	hsa:03040

#	Reference Title	Reference Citation
1.	Splicing and beyond: the many faces of the Prp19 complex.	Chanarat S and Strasser K, Biochim Biophys Acta. 2013 Oct;1833(10):2126-34. doi: 10.1016/j.bbamcr.2013.05.023. Epub 2013 Jun 3.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Spliceosomal immunophilins.	Mesa A, etal., FEBS Lett. 2008 Jul 9;582(16):2345-51. doi: 10.1016/j.febslet.2008.06.006. Epub 2008 Jun 9.
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889548	PMID:8977107	PMID:9747881	PMID:11313484	PMID:11976948	PMID:11991638	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15963461	PMID:16169070	PMID:16189514
PMID:16344560	PMID:16710414	PMID:17207965	PMID:18258190	PMID:18676843	PMID:19932913	PMID:20360068	PMID:20460131	PMID:20532202	PMID:20541251	PMID:20676357	PMID:20677832
PMID:21873635	PMID:21887220	PMID:22365833	PMID:22379092	PMID:22658674	PMID:22939629	PMID:23084401	PMID:24457600	PMID:24981860	PMID:25416956	PMID:25505242	PMID:25599396
PMID:26186194	PMID:26344197	PMID:26496610	PMID:26627737	PMID:27684187	PMID:28076346	PMID:28302793	PMID:28514442	PMID:28515276	PMID:28611215	PMID:29229926	PMID:29298432
PMID:29395067	PMID:29773831	PMID:30021884	PMID:30033366	PMID:30389953	PMID:30404004	PMID:30890647	PMID:31091453	PMID:31391242	PMID:31527615	PMID:31839598	PMID:32203420
PMID:32296183	PMID:32814053	PMID:33306668	PMID:33606679	PMID:33957083	PMID:33961781	PMID:34108663	PMID:34133714	PMID:34349018	PMID:34373451	PMID:34799561	PMID:35013218
PMID:35253629	PMID:35271311	PMID:36215168	PMID:36526897	PMID:37071682	PMID:37075125	PMID:37100772	PMID:37689310	PMID:39238192

PPIE
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	39,692,182 - 39,763,914 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	40,204,554 - 40,229,586 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	39,977,117 - 40,002,173 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	39,873,622 - 39,888,471	NCBI
Celera	1	38,486,281 - 38,511,350 (+)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	38,323,206 - 38,348,301 (+)	NCBI		HuRef
CHM1_1	1	40,319,960 - 40,345,027 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI		T2T-CHM13v2.0

Ppie
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	123,020,907 - 123,033,783 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	123,020,908 - 123,033,744 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	123,127,114 - 123,139,990 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	123,127,115 - 123,139,951 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	122,804,368 - 122,817,184 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	122,629,428 - 122,642,244 (-)	NCBI		MGSCv36	mm8
Celera	4	121,458,036 - 121,470,830 (-)	NCBI		Celera
Cytogenetic Map	4	D2.2	NCBI
cM Map	4	57.39	NCBI

Ppie
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	140,691,285 - 140,704,347 (-)	NCBI		GRCr8
mRatBN7.2	5	135,406,172 - 135,419,332 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	135,406,176 - 135,419,235 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	138,112,881 - 138,125,632 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	139,882,852 - 139,895,603 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	139,889,979 - 139,902,730 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	140,822,141 - 140,835,244 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	140,822,141 - 140,834,959 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	144,612,621 - 144,625,724 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	142,445,476 - 142,455,367 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	142,447,283 - 142,460,331 (-)	NCBI
Celera	5	133,948,954 - 133,958,845 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Ppie
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955452	17,242,286 - 17,254,860 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	17,242,255 - 17,256,776 (+)	NCBI	ChiLan1.0	ChiLan1.0

PPIE
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	187,057,737 - 187,129,294 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	186,195,378 - 186,267,325 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	39,029,412 - 39,054,500 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	40,355,598 - 40,373,495 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	40,355,598 - 40,380,472 (+)	Ensembl	panpan1.1		panPan2

PPIE
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	3,156,067 - 3,173,028 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	3,153,628 - 3,172,988 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	3,412,962 - 3,429,449 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	3,274,186 - 3,290,772 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	3,271,923 - 3,290,799 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	3,150,413 - 3,166,970 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	3,211,469 - 3,228,010 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	3,227,023 - 3,243,593 (-)	NCBI		UU_Cfam_GSD_1.0

Ppie
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	55,777,744 - 55,792,075 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	21,602,521 - 21,619,655 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	21,602,555 - 21,616,857 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PPIE
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	95,548,652 - 95,579,964 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	95,548,582 - 95,566,470 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	88,636,947 - 88,652,062 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PPIE
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	93,345,338 - 93,360,739 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	93,345,400 - 93,360,398 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	23,687,722 - 23,703,115 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ppie
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624764	22,222,047 - 22,237,113 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	22,222,103 - 22,237,113 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PPIE
41 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	copy number gain	See cases [RCV000051815]	Chr1:39360747..40900817 [GRCh38] Chr1:39826419..41366489 [GRCh37] Chr1:39599006..41139076 [NCBI36] Chr1:1p34.3-34.2	pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|See cases [RCV000051817]	Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33	pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3	copy number gain	See cases [RCV000051803]	Chr1:38222737..45636176 [GRCh38] Chr1:38688409..46101848 [GRCh37] Chr1:38460996..45874435 [NCBI36] Chr1:1p34.3-34.1	pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	copy number loss	See cases [RCV000053805]	Chr1:38108665..42327551 [GRCh38] Chr1:38574337..42793222 [GRCh37] Chr1:38346924..42565809 [NCBI36] Chr1:1p34.3-34.2	pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	copy number gain	See cases [RCV000138891]	Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2	pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
NM_001720.5(BMP8B):c.1075C>A (p.Pro359Thr)	single nucleotide variant	not specified [RCV004273692]	Chr1:39760553 [GRCh38] Chr1:40226225 [GRCh37] Chr1:1p34.2	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3	copy number gain	not provided [RCV000709854]	Chr1:40097132..40236108 [GRCh37] Chr1:1p34.3-34.2	not provided
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p34.2(chr1:40168865-40315888)x3	copy number gain	not provided [RCV000736470]	Chr1:40168865..40315888 [GRCh37] Chr1:1p34.2	benign
NM_001720.5(BMP8B):c.1059+10A>G	single nucleotide variant	not provided [RCV000961002]	Chr1:39763082 [GRCh38] Chr1:40228754 [GRCh37] Chr1:1p34.2	benign
NM_001720.5(BMP8B):c.978G>A (p.Ser326=)	single nucleotide variant	not provided [RCV000894874]	Chr1:39763173 [GRCh38] Chr1:40228845 [GRCh37] Chr1:1p34.2	benign\|likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3	copy number gain	not provided [RCV000845719]	Chr1:40007947..40280565 [GRCh37] Chr1:1p34.3-34.2	uncertain significance
NM_001720.5(BMP8B):c.1059+579A>G	single nucleotide variant	not provided [RCV000952805]	Chr1:39762513 [GRCh38] Chr1:40228185 [GRCh37] Chr1:1p34.2	benign\|likely benign
NM_001720.5(BMP8B):c.978G>C (p.Ser326=)	single nucleotide variant	not provided [RCV000901304]	Chr1:39763173 [GRCh38] Chr1:40228845 [GRCh37] Chr1:1p34.2	likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	copy number loss	not provided [RCV001270633]	Chr1:39340597..40603856 [GRCh37] Chr1:1p34.3-34.2	uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	copy number loss	not specified [RCV002053269]	Chr1:38679545..42556292 [GRCh37] Chr1:1p34.3-34.2	likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic
NM_006112.4(PPIE):c.409C>T (p.Arg137Cys)	single nucleotide variant	not specified [RCV004098187]	Chr1:39745399 [GRCh38] Chr1:40211071 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.908G>A (p.Arg303Gln)	single nucleotide variant	not specified [RCV004111761]	Chr1:39763752 [GRCh38] Chr1:40229424 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.133A>G (p.Lys45Glu)	single nucleotide variant	not specified [RCV004239741]	Chr1:39741368 [GRCh38] Chr1:40207040 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1198G>A (p.Gly400Ser)	single nucleotide variant	not specified [RCV004200864]	Chr1:39760430 [GRCh38] Chr1:40226102 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.896A>G (p.Gln299Arg)	single nucleotide variant	not specified [RCV004208554]	Chr1:39763764 [GRCh38] Chr1:40229436 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.755G>A (p.Cys252Tyr)	single nucleotide variant	not specified [RCV004109540]	Chr1:39752970 [GRCh38] Chr1:40218642 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1094C>T (p.Ala365Val)	single nucleotide variant	not specified [RCV004080793]	Chr1:39760534 [GRCh38] Chr1:40226206 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.538A>G (p.Lys180Glu)	single nucleotide variant	not specified [RCV004174710]	Chr1:39748932 [GRCh38] Chr1:40214604 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.518G>A (p.Arg173His)	single nucleotide variant	not specified [RCV004132633]	Chr1:39748912 [GRCh38] Chr1:40214584 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.620A>G (p.Asn207Ser)	single nucleotide variant	not specified [RCV004220606]	Chr1:39749014 [GRCh38] Chr1:40214686 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.551T>G (p.Phe184Cys)	single nucleotide variant	not specified [RCV004169441]	Chr1:39748945 [GRCh38] Chr1:40214617 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.736T>A (p.Ser246Thr)	single nucleotide variant	not specified [RCV004274191]	Chr1:39752951 [GRCh38] Chr1:40218623 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1031C>T (p.Ala344Val)	single nucleotide variant	not specified [RCV004264642]	Chr1:39763120 [GRCh38] Chr1:40228792 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.154G>A (p.Val52Ile)	single nucleotide variant	not specified [RCV004254677]	Chr1:39741389 [GRCh38] Chr1:40207061 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1175G>T (p.Arg392Leu)	single nucleotide variant	not specified [RCV004350373]	Chr1:39760453 [GRCh38] Chr1:40226125 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.455C>T (p.Pro152Leu)	single nucleotide variant	not specified [RCV004337750]	Chr1:39745445 [GRCh38] Chr1:40211117 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.589A>G (p.Met197Val)	single nucleotide variant	not specified [RCV004342618]	Chr1:39748983 [GRCh38] Chr1:40214655 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1095G>A (p.Ala365=)	single nucleotide variant	not provided [RCV003406391]	Chr1:39760533 [GRCh38] Chr1:40226205 [GRCh37] Chr1:1p34.2	likely benign
NM_001720.5(BMP8B):c.889G>A (p.Gly297Ser)	single nucleotide variant	not provided [RCV003406392]	Chr1:39763771 [GRCh38] Chr1:40229443 [GRCh37] Chr1:1p34.2	likely benign
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
NM_006112.4(PPIE):c.826C>T (p.Arg276Trp)	single nucleotide variant	not specified [RCV004507037]	Chr1:39753041 [GRCh38] Chr1:40218713 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.233G>A (p.Arg78His)	single nucleotide variant	not specified [RCV004507034]	Chr1:39743247 [GRCh38] Chr1:40208919 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.546T>G (p.Phe182Leu)	single nucleotide variant	not specified [RCV004507035]	Chr1:39748940 [GRCh38] Chr1:40214612 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.596A>G (p.Gln199Arg)	single nucleotide variant	not specified [RCV004507036]	Chr1:39748990 [GRCh38] Chr1:40214662 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1180A>C (p.Met394Leu)	single nucleotide variant	not specified [RCV004433912]	Chr1:39760448 [GRCh38] Chr1:40226120 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.382G>A (p.Glu128Lys)	single nucleotide variant	not specified [RCV004664825]	Chr1:39743922 [GRCh38] Chr1:40209594 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.229A>G (p.Ile77Val)	single nucleotide variant	not specified [RCV004656120]	Chr1:39743243 [GRCh38] Chr1:40208915 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1174C>T (p.Arg392Cys)	single nucleotide variant	not specified [RCV004887558]	Chr1:39760454 [GRCh38] Chr1:40226126 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1051C>A (p.Gln351Lys)	single nucleotide variant	not specified [RCV004887560]	Chr1:39763100 [GRCh38] Chr1:40228772 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.686C>T (p.Thr229Met)	single nucleotide variant	not specified [RCV004848363]	Chr1:39749080 [GRCh38] Chr1:40214752 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.796G>A (p.Gly266Arg)	single nucleotide variant	not specified [RCV004848364]	Chr1:39753011 [GRCh38] Chr1:40218683 [GRCh37] Chr1:1p34.2	uncertain significance
NM_006112.4(PPIE):c.49G>A (p.Val17Met)	single nucleotide variant	not specified [RCV004848365]	Chr1:39740182 [GRCh38] Chr1:40205854 [GRCh37] Chr1:1p34.2	uncertain significance
NM_001720.5(BMP8B):c.1055C>A (p.Ser352Tyr)	single nucleotide variant	not specified [RCV004365715]	Chr1:39763096 [GRCh38] Chr1:40228768 [GRCh37] Chr1:1p34.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	5730
Count of miRNA genes:	1346
Interacting mature miRNAs:	1772
Transcripts:	ENST00000324379, ENST00000356511, ENST00000372830, ENST00000372835, ENST00000456578, ENST00000467741, ENST00000470018, ENST00000470213, ENST00000474804, ENST00000475350, ENST00000480169, ENST00000482751, ENST00000485507, ENST00000495526, ENST00000497370
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597301467	GWAS1397541_H	peptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1397541 (human)		5e-53	peptidyl-prolyl cis-trans isomerase E measurement		1	39744796	39744797	Human
597478142	GWAS1574216_H	blood protein measurement QTL GWAS1574216 (human)		8e-44	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	1	39739151	39739152	Human
407058336	GWAS707312_H	heel bone mineral density QTL GWAS707312 (human)		9e-10	heel bone mineral density	bone mineral density (CMO:0001226)	1	39739351	39739352	Human
597266602	GWAS1362676_H	peptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1362676 (human)		3e-21	peptidyl-prolyl cis-trans isomerase E measurement		1	39755134	39755135	Human
597272685	GWAS1368759_H	peptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1368759 (human)		1e-13	peptidyl-prolyl cis-trans isomerase E measurement		1	39740838	39740839	Human
597272684	GWAS1368758_H	peptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1368758 (human)		3e-24	peptidyl-prolyl cis-trans isomerase E measurement		1	39750562	39750563	Human
597077891	GWAS1173965_H	blood protein measurement QTL GWAS1173965 (human)		4e-25	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	1	39753393	39753394	Human
597487675	GWAS1583749_H	peptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1583749 (human)		9e-24	peptidyl-prolyl cis-trans isomerase E measurement		1	39747206	39747207	Human

RH93165

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	40,229,395 - 40,229,555	UniSTS	GRCh37
GRCh37	1	39,987,983 - 39,988,143	UniSTS	GRCh37
Build 36	1	39,760,570 - 39,760,730	RGD	NCBI36
Celera	1	38,269,821 - 38,269,981	RGD
Celera	1	38,511,159 - 38,511,319	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p35-p32	UniSTS
Cytogenetic Map	1	p32	UniSTS
HuRef	1	38,348,110 - 38,348,270	UniSTS
HuRef	1	38,107,179 - 38,107,339	UniSTS
GeneMap99-GB4 RH Map	1	119.2	UniSTS

G62039

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	40,219,185 - 40,219,334	UniSTS	GRCh37
Build 36	1	39,991,772 - 39,991,921	RGD	NCBI36
Celera	1	38,500,949 - 38,501,098	RGD
Cytogenetic Map	1	p32	UniSTS
HuRef	1	38,337,871 - 38,338,020	UniSTS

D1S168

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	40,227,858 - 40,228,025	UniSTS	GRCh37
GRCh37	1	39,989,533 - 39,989,714	UniSTS	GRCh37
Build 36	1	39,762,120 - 39,762,301	RGD	NCBI36
Celera	1	38,271,371 - 38,271,552	RGD
Celera	1	38,509,622 - 38,509,789	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p35-p32	UniSTS
Cytogenetic Map	1	p32	UniSTS
HuRef	1	38,346,544 - 38,346,711	UniSTS
HuRef	1	38,108,732 - 38,108,915	UniSTS

BMP8B_2501

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	40,223,705 - 40,224,304	UniSTS	GRCh37
Build 36	1	39,996,292 - 39,996,891	RGD	NCBI36
Celera	1	38,505,469 - 38,506,068	RGD
HuRef	1	38,342,391 - 38,342,990	UniSTS

PPIE_9112

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	40,219,009 - 40,219,537	UniSTS	GRCh37
Build 36	1	39,991,596 - 39,992,124	RGD	NCBI36
Celera	1	38,500,773 - 38,501,301	RGD
HuRef	1	38,337,695 - 38,338,223	UniSTS

D1S3422

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	40,222,181 - 40,222,437	UniSTS	GRCh37
Build 36	1	39,994,768 - 39,995,024	RGD	NCBI36
Celera	1	38,503,945 - 38,504,201	RGD
Cytogenetic Map	1	p32	UniSTS
HuRef	1	38,340,867 - 38,341,123	UniSTS
Whitehead-YAC Contig Map	1		UniSTS

D15S1390

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	8	q24.22	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	7	q21.3	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	7	p13	UniSTS

G38154

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	3	q26.1	UniSTS
Cytogenetic Map	18	q21.32	UniSTS
Cytogenetic Map	17	q21.2-q21.3	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	3	q21.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	20	q11.2-q13.2	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	5	q11.2	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	4	p15.31	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	4	q32.3	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	2	q37	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	3	p21.1	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_044984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001195007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001319293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_203456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_036543	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_036544	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006710289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006710290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011540501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_946519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_946520	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_946521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF042385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF042386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF104012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF104013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI079772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130628	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL033527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL035404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC107736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU160972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU179717	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU196539	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU689929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA445146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK300365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CT002466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA079924	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ160195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000324379 ⟹ ENSP00000312769

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,882 - 39,756,769 (+)	Ensembl

Ensembl Acc Id:

ENST00000356511 ⟹ ENSP00000348904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,885 - 39,763,914 (+)	Ensembl

Ensembl Acc Id:

ENST00000372830 ⟹ ENSP00000361918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,901 - 39,763,914 (+)	Ensembl

Ensembl Acc Id:

ENST00000372835 ⟹ ENSP00000361925

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,901 - 39,753,444 (+)	Ensembl

Ensembl Acc Id:

ENST00000456578

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,886 - 39,741,843 (+)	Ensembl

Ensembl Acc Id:

ENST00000467741

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,761,199 - 39,763,914 (+)	Ensembl

Ensembl Acc Id:

ENST00000470018 ⟹ ENSP00000436689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,692,182 - 39,745,403 (+)	Ensembl

Ensembl Acc Id:

ENST00000470213 ⟹ ENSP00000431714

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,901 - 39,753,266 (+)	Ensembl

Ensembl Acc Id:

ENST00000474804 ⟹ ENSP00000432396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,904 - 39,749,088 (+)	Ensembl

Ensembl Acc Id:

ENST00000475350 ⟹ ENSP00000434888

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,908 - 39,753,716 (+)	Ensembl

Ensembl Acc Id:

ENST00000480169

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,990 - 39,745,498 (+)	Ensembl

Ensembl Acc Id:

ENST00000482751

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,890 - 39,753,716 (+)	Ensembl

Ensembl Acc Id:

ENST00000485507

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,879 - 39,742,481 (+)	Ensembl

Ensembl Acc Id:

ENST00000495526 ⟹ ENSP00000434989

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,888 - 39,753,716 (+)	Ensembl

Ensembl Acc Id:

ENST00000497370 ⟹ ENSP00000433475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	39,738,901 - 39,753,052 (+)	Ensembl

RefSeq Acc Id:

NM_001195007 ⟹ NP_001181936

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI
GRCh37	1	40,204,517 - 40,229,586 (+)	ENTREZGENE
HuRef	1	38,323,206 - 38,348,301 (+)	ENTREZGENE
CHM1_1	1	40,319,960 - 40,345,027 (+)	NCBI
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI

Sequence:

show sequence

GGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTACGTGGGTGGACTGGCAGAGGAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATATTCAGA
TTCCTCTGGATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGAGGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTCGTGTC
AATTTGGCCAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACTGGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAGCCTCC
CAAAGCAGAGACCCAGGAGGGAGAGCCCATTGCTAAAAAGGCCCGCTCAAATCCTCAGGTGTACATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCG
TGCCCATGACAGCAGAGAATTTCCGCTGCCTGTGCACTCATGAAAAGGGCTTTGGCTTTAAGGGAAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAAT
GGCACTGGGGGCAAGTCCATCTATGGGAAGAAGTTCGATGATGAAAACTTTATCCTCAAGCATACGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCT
GACATGTGACAAGACAGACTGGCTGGATGGCAAGCATGTGGTGTTTGGAGAGGTCACCGAAGGCCTAGATGTCTTGCGGCAAATTGAGGTTGCCCCAGATACCAAGGCATCAAAAGCCAGGGGATCCA
GAAAAAACAAAGATGGCCAAGAGAGAAACTGGGGGAAAAGCCAAAAGGTTGAGAGCCACACCATCTAGAAGCTTCCTGCCTGCGGTGCGGCACAGAAACAAGAAGAGTCAGCAATTACCAGCCAGCCG
AGGTCCTGGAAGCTGACGTAGAGCTCGTGCCGACGGCAGACCTGCCGGCCGTGGGAGCCGTGGACGTCATCTGCAGGGACAGAAGGGGCAAGGTCTTTTCTGGGGTTCCTACTGTGTGCAGCTACTAT
GGGGTACCAGGGTGGGGGATGCCCTGATGAGCACATTTGTCAAATAAATGAATGACAGGAAACCA

hide sequence

RefSeq Acc Id:

NM_001319293 ⟹ NP_001306222

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI
CHM1_1	1	40,319,960 - 40,345,027 (+)	NCBI
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI

Sequence:

show sequence

GGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTACGTGGGTGGACTGGCAGAGGAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATATTCAGA
TTCCTCTGGATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGAGGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTCGTGTC
AATTTGGCCAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACTGGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAGCCTCC
CAAAGCAGAGACCCAGGAGGTGTACATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCGTGCCCATGACAGCAGAGAATTTCCGCTGCCTGTGCACTC
ATGAAAAGGGCTTTGGCTTTAAGGGAAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAATGGCACTGGGGGCAAGTCCATCTATGGGAAGAAGTTCGAT
GATGAAAACTTTATCCTCAAGCATACGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCTGACATGTGACAAGACAGACTGGCTGGATGGCAAGCATGT
GGTGTTTGGAGAGGTCACCGAAGGCCTAGATGTCTTGCGGCAAATTGAGAAACAAGAAGAGTCAGCAATTACCAGCCAGCCGAGGTCCTGGAAGCTGACGTAGAGCTCGTGCCGACGGCAGACCTGCC
GGCCGTGGGAGCCGTGGACGTCATCTGCAGGGACAGAAGGGGCAAGGTCTTTTCTGGGGTTCCTACTGTGTGCAGCTACTATGGGGTACCAGGGTGGGGGATGCCCTGATGAGCACATTTGTCAAATA
AATGAATGACAGGAAACCA

hide sequence

RefSeq Acc Id:

NM_006112 ⟹ NP_006103

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,756,769 (+)	NCBI
GRCh37	1	40,204,517 - 40,229,586 (+)	ENTREZGENE
Build 36	1	39,977,117 - 39,991,965 (+)	NCBI Archive
HuRef	1	38,323,206 - 38,348,301 (+)	ENTREZGENE
CHM1_1	1	40,319,960 - 40,337,881 (+)	NCBI
T2T-CHM13v2.0	1	39,608,324 - 39,626,209 (+)	NCBI

Sequence:

show sequence

GGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTACGTGGGTGGACTGGCAGAG
GAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATATTCAGATTCCTCTGGATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGA
GGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTCGTGTCAATTTGGCCAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACT
GGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAGCCTCCCAAAGCAGAGACCCAGGAGGGAGAGCCCATTGCTAAAAAGGCCCGCTCAAATCCTCAGGTGTAC
ATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCGTGCCCATGACAGCAGAGAATTTCCGCTGCCTGTGCACTCATGAAAAGGGCTTTGGCTTTAAGGG
AAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAATGGCACTGGGGGCAAGTCCATCTATGGGAAGAAGTTCGATGATGAAAACTTTATCCTCAAGCATA
CGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCTGACATGTGACAAGACAGACTGGCTGGATGGCAAGCATGTGGTGTTTGGAGAGGTCACCGAAGGC
CTAGATGTCTTGCGGCAAATTGAGGCCCAGGGCAGCAAGGACGGGAAGCCAAAGCAGAAGGTGATCATCGCCGACTGTGGGGAGTACGTGTGAGGCGGCACTCTCTCTGCTTCCCCCTCCGCTCTTGA
CCCTGCATATCCAGGAAGGAACTGCCAGCCTCAGAGGAGGCAGCACCGAGGGTGCCTGTTTGAAGCAAGCAGCATTTGGGATATGTGCCCTTCCTCAGGGTCTGCTTGGAGCAGCTCCTCTGCAGGCA
CAGCCTGGACTATTCCCAGGCACAGCTGTGGGCCCAGGAGCCAGCTCAGGTGCTCCCCTCCACCATGGGCAGGCTGTGCAAAAAGCCACTGGCTTTTCTCAGCATTTGCTGCTGGGCCTCTCCTGGGA
CTACCAGTGTGGCTCTTACGTGTTTTCTTTGCTAAAATAAACCCTAGTTCTTATATTGCTCTTCCTGCTAGTTCTTGGGAGTTGTCAGAGATTGTGTCTGTGGCTAAGCTGGACCTCTGAGGCAGGCT
GGTGAGTGGGGAGAGCAGAGCATCTTTTTCACAGCTTTCATTTCCTCCCTTGGGCCGATCCCCTTAGATGTCAGGTGATGTATCTTCACACCAGGCATCGATGTCAGGGCAACGGAAATTAAAGACTG
GAAAGCTCCGGTCTTCTGCTGCCTCTGCTCCTAAACCCAGCTGCCGGCCTTACAGCCAGCAAGTGTACTCTCAGTGGTTCATTTGTTTATTTGTTCACTTTCACCCTACAGATTTTAAAAAATGAAAT
TTTTATAACTCAAAGTGCCTTCTCTGTGCCAAGTACTATGCCTATTTGTCAGGAGACAGGAAGCCAACAAACTACATGTGCCTAATCCAGCCCACTGCCTGTTTTTATGAATCAGGTTTTATTGGAAC
ACAGCCACGTCCATTTATTTACATATTGTCCATGGTGGTTTCTTACTGCAGTGGCAGAGGTGCGTAAGGGGCTATAGACACAATACAGGCTATGGTCCCTGTATTAGGGTTTTCTAGAGAAGCAGAAC
CAATAGGGTGTGTATATATGTAGAAAGAGATTTATTTTAAGGAACTGGCTCAAGCAGTGGTAGGAGCTGGCAAGTCTGCAATCTGCACAACAGACCAGCAGGCTGGAGACTCAGGAAAAAAACTGATG
TTGCAGTTCAGCTCTGAGGCAGTTTGGAAGCAGAATTCTTCCTCCAGTGATCTCAGTCTTTTTTCTCTTAAGAATTTCAACTGATTGGATGAGGCCTACCCACATTATGGAGGGTAATCTGCTTTACT
CTCTACTGACTTAAATATTAATCCATCTAAAAAATAGGCCAGGCATGGTGGCTCATGCCTATAATTCCACCACTATTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCT
GGGCAATGTAGAGACCCCCATCTCTAGGGGGAGAAAAAAAAGCCAGGTATGGTAGTGCACACCTATAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGC
AGTCAGCCATGGTCATGCCACTGTACTCCAGCCTGGGTGACAAGAGGGAGACCCTGTCTTGAAAAAAAGAAACCATCATCACAGCAACATCTAGACTAGTGTTTGACTAAAAACTGGATACCATGGCC
TAGCCAAATTGACACACAAAATAGACCATCACAGTCCCAAGGCCTAAAATACTTACTATCTGAGCCTTTACAAAACAGGATTGCCAGCCACTGAAGAGAACAAATGGTCCCACCCCCTGCTGAGCTCA
CAGTCTGGCTCTCCTGTGTGCAGCCACTTCTTGGAGCTGGCTTCTCTCCACTCCCCCTCCAGATGCTGGTCAGCCAGGCGGTTATAAAGAATCTCATCTGCTGAAGGCTTTTAGCAGGGACTGAGTCC
TGTAGCTGTTGGACACCTCCTGTGGGTTGGGTCACTCAGACCATTCAGAATCCACTGAGCTGAGCTTTTGCATCTTGGATTGAGATCTGGATGAGCCAGGAGGCAGGAGAGGCTAGGTGGTCCTCATG
ACCCTAGGATAGCTCTTGCTGAGGGATGGTGGCATTCTGCCCTACCTCTGGCTCCCATGTGCCGACTGGACTTTGTGAGCTCCAGCTGCTACAGTTGACTGAGTTCAGGCTCCATGTAGCTGGGATAT
ACTACATGGTTACCCCTCACCCCTATGGAGCTTCCAAAAGAGACCCTCCCTCAAAGCACAGCCCCTTCTCTGAGTGCAAATAATGGCCATCAGAGGTCAGTCACAGGTGTTAGGCAGGCATCTATGAA
GCTGGGGATGATAGCACTGACTTCAGTGCTTGGACGAGAACCAGGAGAGAGTGTGTAGAAAAAGCACAGCCAGCCTCCCATAAAAGGACAGACTCCTGTGACAACCTTGTCACTCTGTTCCTCCCTGA
TACTCTGGGGAGGTGGAGGCCAGTGGGCAGTTCTGAAAGCTCAGCAGGTTTGGAGCCATTGGGTGTGGACTCCTCTCCCAGTGTTCCTCCTGGGTGTTCACAGATGTTATTGAATGCACACTGGAACC
CTGCACAGGTAAACTGAGGCTTTATTGGCGTGACTGCCAAAGGTCACACAGGGTGGTTTGGCAGAGCTGGGATTAGAAGCCCAGCCTGTCTCTCTTCAGTAGTAATGGAGTCCTGGGAGGTTTACTAG
GCTTTAGCCTCAATCTGTGGCGGCAGGGTCCACAGCCCTGGGGAGTGACACAGTCATGGTCCCCATGATTGGCCAGGACCTGTGTGGAGAGACACAGGAGACAAGACCCTGCTCTTCCAGGCCAGAAG
GGAGGGGAGCCCCAGAGCTGGGCAGTGGCATGCCCCACAGCCTGGCCACCTGCTTCGGCTACGCACCATGCAGCAGCTGCACCTGGCTGCCTCGGGAAAACTCTGACCTCTCTGGGAAGTGGAGCCAG
TGGCTCTGTGGGCGTCCTTTCCTGCAGCCTGGAGAGCAAAGCGGCTTTCCCTGGGACTGTGTGGCTCCTGTCCCAACTGGCCTCCCCATTCCACATTCCCATTGCTGGACCAGCACCAGGACTGGGCA
CAGGGCTTCCTTTTGCTGATTCATTTCCCCCCTAACTCATTCAGAGTTGAGCCCCATCTGAGTCCCCACATGCTGGCCCTGAAACGGTTACAAAGGCTGAAACCAGGGATGGCAGGCCCAGGATCAGT
GCTGTGGCTGTTGGAGTGTCCTCTCCAACAGCATGACAGCCGCCTCCAGGTGCTCCCAGCATCTGTTGCAGTCATGGCAGCCTCACGGCAACCTCTGAAGAAGGAATTATAGAACCAACTTTTTATTG
TTGAAAATGGAGTCTTGTAGAGTTCAGTGATGGGAAACTAAAGTAGAAAAAGCACATCACAAAGAAACATATATAGTACAGTGTGATCCCAATTTTGTAAAAATATCTGTAATATGTAAGCATAGGTA
TTTGTATATCTTAAGAAAAAAAGCCTAGAAATAAAGCCACAAAAATATTAA

hide sequence

RefSeq Acc Id:

NM_203456 ⟹ NP_982281

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI
GRCh37	1	40,204,517 - 40,229,586 (+)	ENTREZGENE
Build 36	1	39,977,117 - 40,002,173 (+)	NCBI Archive
HuRef	1	38,323,206 - 38,348,301 (+)	ENTREZGENE
CHM1_1	1	40,319,960 - 40,345,027 (+)	NCBI
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI

Sequence:

show sequence

GGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTACGTGGGTGGACTGGCAGAG
GAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATATTCAGATTCCTCTGGATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGA
GGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTCGTGTCAATTTGGCCAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACT
GGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAGCCTCCCAAAGCAGAGACCCAGGAGGGAGAGCCCATTGCTAAAAAGGCCCGCTCAAATCCTCAGGTGTAC
ATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCGTGCCCATGACAGCAGAGAATTTCCGCTGCCTGTGCACTCATGAAAAGGGCTTTGGCTTTAAGGG
AAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAATGGCACTGGGGGCAAGTCCATCTATGGGAAGAAGTTCGATGATGAAAACTTTATCCTCAAGCATA
CGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCTGACATGTGACAAGACAGACTGGCTGGATGGCAAGCATGTGGTGTTTGGAGAGGTCACCGAAGGC
CTAGATGTCTTGCGGCAAATTGAGAAACAAGAAGAGTCAGCAATTACCAGCCAGCCGAGGTCCTGGAAGCTGACGTAGAGCTCGTGCCGACGGCAGACCTGCCGGCCGTGGGAGCCGTGGACGTCATC
TGCAGGGACAGAAGGGGCAAGGTCTTTTCTGGGGTTCCTACTGTGTGCAGCTACTATGGGGTACCAGGGTGGGGGATGCCCTGATGAGCACATTTGTCAAATAAATGAATGACAGGAAACCA

hide sequence

RefSeq Acc Id:

NR_036543

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,756,769 (+)	NCBI
GRCh37	1	40,204,517 - 40,229,586 (+)	ENTREZGENE
HuRef	1	38,323,206 - 38,348,301 (+)	ENTREZGENE
CHM1_1	1	40,319,960 - 40,337,881 (+)	NCBI
T2T-CHM13v2.0	1	39,608,324 - 39,626,209 (+)	NCBI

Sequence:

show sequence

GGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTGGACTGGCAGAGGAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATATTCAGATTCCTCTG
GATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGAGGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTCGTGTCAATTTGGC
CAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACTGGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAGCCTCCCAAAGCAG
AGACCCAGGAGGGAGAGCCCATTGCTAAAAAGGCCCGCTCAAATCCTCAGGTGTACATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCGTGCCCATG
ACAGCAGAGAATTTCCGCTGCCTGTGCACTCATGAAAAGGGCTTTGGCTTTAAGGGAAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAATGGCACTGG
GGGCAAGTCCATCTATGGGAAGAAGTTCGATGATGAAAACTTTATCCTCAAGCATACGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCTGACATGTG
ACAAGACAGACTGGCTGGATGGCAAGCATGTGGTGTTTGGAGAGGTCACCGAAGGCCTAGATGTCTTGCGGCAAATTGAGGCCCAGGGCAGCAAGGACGGGAAGCCAAAGCAGAAGGTGATCATCGCC
GACTGTGGGGAGTACGTGTGAGGCGGCACTCTCTCTGCTTCCCCCTCCGCTCTTGACCCTGCATATCCAGGAAGGAACTGCCAGCCTCAGAGGAGGCAGCACCGAGGGTGCCTGTTTGAAGCAAGCAG
CATTTGGGATATGTGCCCTTCCTCAGGGTCTGCTTGGAGCAGCTCCTCTGCAGGCACAGCCTGGACTATTCCCAGGCACAGCTGTGGGCCCAGGAGCCAGCTCAGGTGCTCCCCTCCACCATGGGCAG
GCTGTGCAAAAAGCCACTGGCTTTTCTCAGCATTTGCTGCTGGGCCTCTCCTGGGACTACCAGTGTGGCTCTTACGTGTTTTCTTTGCTAAAATAAACCCTAGTTCTTATATTGCTCTTCCTGCTAGT
TCTTGGGAGTTGTCAGAGATTGTGTCTGTGGCTAAGCTGGACCTCTGAGGCAGGCTGGTGAGTGGGGAGAGCAGAGCATCTTTTTCACAGCTTTCATTTCCTCCCTTGGGCCGATCCCCTTAGATGTC
AGGTGATGTATCTTCACACCAGGCATCGATGTCAGGGCAACGGAAATTAAAGACTGGAAAGCTCCGGTCTTCTGCTGCCTCTGCTCCTAAACCCAGCTGCCGGCCTTACAGCCAGCAAGTGTACTCTC
AGTGGTTCATTTGTTTATTTGTTCACTTTCACCCTACAGATTTTAAAAAATGAAATTTTTATAACTCAAAGTGCCTTCTCTGTGCCAAGTACTATGCCTATTTGTCAGGAGACAGGAAGCCAACAAAC
TACATGTGCCTAATCCAGCCCACTGCCTGTTTTTATGAATCAGGTTTTATTGGAACACAGCCACGTCCATTTATTTACATATTGTCCATGGTGGTTTCTTACTGCAGTGGCAGAGGTGCGTAAGGGGC
TATAGACACAATACAGGCTATGGTCCCTGTATTAGGGTTTTCTAGAGAAGCAGAACCAATAGGGTGTGTATATATGTAGAAAGAGATTTATTTTAAGGAACTGGCTCAAGCAGTGGTAGGAGCTGGCA
AGTCTGCAATCTGCACAACAGACCAGCAGGCTGGAGACTCAGGAAAAAAACTGATGTTGCAGTTCAGCTCTGAGGCAGTTTGGAAGCAGAATTCTTCCTCCAGTGATCTCAGTCTTTTTTCTCTTAAG
AATTTCAACTGATTGGATGAGGCCTACCCACATTATGGAGGGTAATCTGCTTTACTCTCTACTGACTTAAATATTAATCCATCTAAAAAATAGGCCAGGCATGGTGGCTCATGCCTATAATTCCACCA
CTATTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATGTAGAGACCCCCATCTCTAGGGGGAGAAAAAAAAGCCAGGTATGGTAGTGCACACCTATAGTCCC
AGCTACTCAGAAGGCTGAGGTGGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTCAGCCATGGTCATGCCACTGTACTCCAGCCTGGGTGACAAGAGGGAGACCCTGTCTTGAAAAAAAGAAA
CCATCATCACAGCAACATCTAGACTAGTGTTTGACTAAAAACTGGATACCATGGCCTAGCCAAATTGACACACAAAATAGACCATCACAGTCCCAAGGCCTAAAATACTTACTATCTGAGCCTTTACA
AAACAGGATTGCCAGCCACTGAAGAGAACAAATGGTCCCACCCCCTGCTGAGCTCACAGTCTGGCTCTCCTGTGTGCAGCCACTTCTTGGAGCTGGCTTCTCTCCACTCCCCCTCCAGATGCTGGTCA
GCCAGGCGGTTATAAAGAATCTCATCTGCTGAAGGCTTTTAGCAGGGACTGAGTCCTGTAGCTGTTGGACACCTCCTGTGGGTTGGGTCACTCAGACCATTCAGAATCCACTGAGCTGAGCTTTTGCA
TCTTGGATTGAGATCTGGATGAGCCAGGAGGCAGGAGAGGCTAGGTGGTCCTCATGACCCTAGGATAGCTCTTGCTGAGGGATGGTGGCATTCTGCCCTACCTCTGGCTCCCATGTGCCGACTGGACT
TTGTGAGCTCCAGCTGCTACAGTTGACTGAGTTCAGGCTCCATGTAGCTGGGATATACTACATGGTTACCCCTCACCCCTATGGAGCTTCCAAAAGAGACCCTCCCTCAAAGCACAGCCCCTTCTCTG
AGTGCAAATAATGGCCATCAGAGGTCAGTCACAGGTGTTAGGCAGGCATCTATGAAGCTGGGGATGATAGCACTGACTTCAGTGCTTGGACGAGAACCAGGAGAGAGTGTGTAGAAAAAGCACAGCCA
GCCTCCCATAAAAGGACAGACTCCTGTGACAACCTTGTCACTCTGTTCCTCCCTGATACTCTGGGGAGGTGGAGGCCAGTGGGCAGTTCTGAAAGCTCAGCAGGTTTGGAGCCATTGGGTGTGGACTC
CTCTCCCAGTGTTCCTCCTGGGTGTTCACAGATGTTATTGAATGCACACTGGAACCCTGCACAGGTAAACTGAGGCTTTATTGGCGTGACTGCCAAAGGTCACACAGGGTGGTTTGGCAGAGCTGGGA
TTAGAAGCCCAGCCTGTCTCTCTTCAGTAGTAATGGAGTCCTGGGAGGTTTACTAGGCTTTAGCCTCAATCTGTGGCGGCAGGGTCCACAGCCCTGGGGAGTGACACAGTCATGGTCCCCATGATTGG
CCAGGACCTGTGTGGAGAGACACAGGAGACAAGACCCTGCTCTTCCAGGCCAGAAGGGAGGGGAGCCCCAGAGCTGGGCAGTGGCATGCCCCACAGCCTGGCCACCTGCTTCGGCTACGCACCATGCA
GCAGCTGCACCTGGCTGCCTCGGGAAAACTCTGACCTCTCTGGGAAGTGGAGCCAGTGGCTCTGTGGGCGTCCTTTCCTGCAGCCTGGAGAGCAAAGCGGCTTTCCCTGGGACTGTGTGGCTCCTGTC
CCAACTGGCCTCCCCATTCCACATTCCCATTGCTGGACCAGCACCAGGACTGGGCACAGGGCTTCCTTTTGCTGATTCATTTCCCCCCTAACTCATTCAGAGTTGAGCCCCATCTGAGTCCCCACATG
CTGGCCCTGAAACGGTTACAAAGGCTGAAACCAGGGATGGCAGGCCCAGGATCAGTGCTGTGGCTGTTGGAGTGTCCTCTCCAACAGCATGACAGCCGCCTCCAGGTGCTCCCAGCATCTGTTGCAGT
CATGGCAGCCTCACGGCAACCTCTGAAGAAGGAATTATAGAACCAACTTTTTATTGTTGAAAATGGAGTCTTGTAGAGTTCAGTGATGGGAAACTAAAGTAGAAAAAGCACATCACAAAGAAACATAT
ATAGTACAGTGTGATCCCAATTTTGTAAAAATATCTGTAATATGTAAGCATAGGTATTTGTATATCTTAAGAAAAAAAGCCTAGAAATAAAGCCACAAAAATATTAA

hide sequence

RefSeq Acc Id:

NR_036544

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,756,769 (+)	NCBI
GRCh37	1	40,204,517 - 40,229,586 (+)	ENTREZGENE
HuRef	1	38,323,206 - 38,348,301 (+)	ENTREZGENE
CHM1_1	1	40,319,960 - 40,337,881 (+)	NCBI
T2T-CHM13v2.0	1	39,608,324 - 39,626,209 (+)	NCBI

Sequence:

show sequence

GGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTGGACTGGCAGAGGAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATATTCAGATTCCTCTG
GATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGAGGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTCGTGTCAATTTGGC
CAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACTGGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAGCCTCCCAAAGCAG
AGACCCAGGAGGTGTACATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCGTGCCCATGACAGCAGAGAATTTCCGCTGCCTGTGCACTCATGAAAAG
GGCTTTGGCTTTAAGGGAAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAATGGCACTGGGGGCAAGTCCATCTATGGGAAGAAGTTCGATGATGAAAA
CTTTATCCTCAAGCATACGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCTGACATGTGACAAGACAGACTGGCTGGATGGCAAGCATGTGGTGTTTG
GAGAGGTCACCGAAGGCCTAGATGTCTTGCGGCAAATTGAGGCCCAGGGCAGCAAGGACGGGAAGCCAAAGCAGAAGGTGATCATCGCCGACTGTGGGGAGTACGTGTGAGGCGGCACTCTCTCTGCT
TCCCCCTCCGCTCTTGACCCTGCATATCCAGGAAGGAACTGCCAGCCTCAGAGGAGGCAGCACCGAGGGTGCCTGTTTGAAGCAAGCAGCATTTGGGATATGTGCCCTTCCTCAGGGTCTGCTTGGAG
CAGCTCCTCTGCAGGCACAGCCTGGACTATTCCCAGGCACAGCTGTGGGCCCAGGAGCCAGCTCAGGTGCTCCCCTCCACCATGGGCAGGCTGTGCAAAAAGCCACTGGCTTTTCTCAGCATTTGCTG
CTGGGCCTCTCCTGGGACTACCAGTGTGGCTCTTACGTGTTTTCTTTGCTAAAATAAACCCTAGTTCTTATATTGCTCTTCCTGCTAGTTCTTGGGAGTTGTCAGAGATTGTGTCTGTGGCTAAGCTG
GACCTCTGAGGCAGGCTGGTGAGTGGGGAGAGCAGAGCATCTTTTTCACAGCTTTCATTTCCTCCCTTGGGCCGATCCCCTTAGATGTCAGGTGATGTATCTTCACACCAGGCATCGATGTCAGGGCA
ACGGAAATTAAAGACTGGAAAGCTCCGGTCTTCTGCTGCCTCTGCTCCTAAACCCAGCTGCCGGCCTTACAGCCAGCAAGTGTACTCTCAGTGGTTCATTTGTTTATTTGTTCACTTTCACCCTACAG
ATTTTAAAAAATGAAATTTTTATAACTCAAAGTGCCTTCTCTGTGCCAAGTACTATGCCTATTTGTCAGGAGACAGGAAGCCAACAAACTACATGTGCCTAATCCAGCCCACTGCCTGTTTTTATGAA
TCAGGTTTTATTGGAACACAGCCACGTCCATTTATTTACATATTGTCCATGGTGGTTTCTTACTGCAGTGGCAGAGGTGCGTAAGGGGCTATAGACACAATACAGGCTATGGTCCCTGTATTAGGGTT
TTCTAGAGAAGCAGAACCAATAGGGTGTGTATATATGTAGAAAGAGATTTATTTTAAGGAACTGGCTCAAGCAGTGGTAGGAGCTGGCAAGTCTGCAATCTGCACAACAGACCAGCAGGCTGGAGACT
CAGGAAAAAAACTGATGTTGCAGTTCAGCTCTGAGGCAGTTTGGAAGCAGAATTCTTCCTCCAGTGATCTCAGTCTTTTTTCTCTTAAGAATTTCAACTGATTGGATGAGGCCTACCCACATTATGGA
GGGTAATCTGCTTTACTCTCTACTGACTTAAATATTAATCCATCTAAAAAATAGGCCAGGCATGGTGGCTCATGCCTATAATTCCACCACTATTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAG
GAGTTCAAGACCAGCCTGGGCAATGTAGAGACCCCCATCTCTAGGGGGAGAAAAAAAAGCCAGGTATGGTAGTGCACACCTATAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGGATCGCTTGAACC
TGGGAGGTTGAGGCTGCAGTCAGCCATGGTCATGCCACTGTACTCCAGCCTGGGTGACAAGAGGGAGACCCTGTCTTGAAAAAAAGAAACCATCATCACAGCAACATCTAGACTAGTGTTTGACTAAA
AACTGGATACCATGGCCTAGCCAAATTGACACACAAAATAGACCATCACAGTCCCAAGGCCTAAAATACTTACTATCTGAGCCTTTACAAAACAGGATTGCCAGCCACTGAAGAGAACAAATGGTCCC
ACCCCCTGCTGAGCTCACAGTCTGGCTCTCCTGTGTGCAGCCACTTCTTGGAGCTGGCTTCTCTCCACTCCCCCTCCAGATGCTGGTCAGCCAGGCGGTTATAAAGAATCTCATCTGCTGAAGGCTTT
TAGCAGGGACTGAGTCCTGTAGCTGTTGGACACCTCCTGTGGGTTGGGTCACTCAGACCATTCAGAATCCACTGAGCTGAGCTTTTGCATCTTGGATTGAGATCTGGATGAGCCAGGAGGCAGGAGAG
GCTAGGTGGTCCTCATGACCCTAGGATAGCTCTTGCTGAGGGATGGTGGCATTCTGCCCTACCTCTGGCTCCCATGTGCCGACTGGACTTTGTGAGCTCCAGCTGCTACAGTTGACTGAGTTCAGGCT
CCATGTAGCTGGGATATACTACATGGTTACCCCTCACCCCTATGGAGCTTCCAAAAGAGACCCTCCCTCAAAGCACAGCCCCTTCTCTGAGTGCAAATAATGGCCATCAGAGGTCAGTCACAGGTGTT
AGGCAGGCATCTATGAAGCTGGGGATGATAGCACTGACTTCAGTGCTTGGACGAGAACCAGGAGAGAGTGTGTAGAAAAAGCACAGCCAGCCTCCCATAAAAGGACAGACTCCTGTGACAACCTTGTC
ACTCTGTTCCTCCCTGATACTCTGGGGAGGTGGAGGCCAGTGGGCAGTTCTGAAAGCTCAGCAGGTTTGGAGCCATTGGGTGTGGACTCCTCTCCCAGTGTTCCTCCTGGGTGTTCACAGATGTTATT
GAATGCACACTGGAACCCTGCACAGGTAAACTGAGGCTTTATTGGCGTGACTGCCAAAGGTCACACAGGGTGGTTTGGCAGAGCTGGGATTAGAAGCCCAGCCTGTCTCTCTTCAGTAGTAATGGAGT
CCTGGGAGGTTTACTAGGCTTTAGCCTCAATCTGTGGCGGCAGGGTCCACAGCCCTGGGGAGTGACACAGTCATGGTCCCCATGATTGGCCAGGACCTGTGTGGAGAGACACAGGAGACAAGACCCTG
CTCTTCCAGGCCAGAAGGGAGGGGAGCCCCAGAGCTGGGCAGTGGCATGCCCCACAGCCTGGCCACCTGCTTCGGCTACGCACCATGCAGCAGCTGCACCTGGCTGCCTCGGGAAAACTCTGACCTCT
CTGGGAAGTGGAGCCAGTGGCTCTGTGGGCGTCCTTTCCTGCAGCCTGGAGAGCAAAGCGGCTTTCCCTGGGACTGTGTGGCTCCTGTCCCAACTGGCCTCCCCATTCCACATTCCCATTGCTGGACC
AGCACCAGGACTGGGCACAGGGCTTCCTTTTGCTGATTCATTTCCCCCCTAACTCATTCAGAGTTGAGCCCCATCTGAGTCCCCACATGCTGGCCCTGAAACGGTTACAAAGGCTGAAACCAGGGATG
GCAGGCCCAGGATCAGTGCTGTGGCTGTTGGAGTGTCCTCTCCAACAGCATGACAGCCGCCTCCAGGTGCTCCCAGCATCTGTTGCAGTCATGGCAGCCTCACGGCAACCTCTGAAGAAGGAATTATA
GAACCAACTTTTTATTGTTGAAAATGGAGTCTTGTAGAGTTCAGTGATGGGAAACTAAAGTAGAAAAAGCACATCACAAAGAAACATATATAGTACAGTGTGATCCCAATTTTGTAAAAATATCTGTA
ATATGTAAGCATAGGTATTTGTATATCTTAAGAAAAAAAGCCTAGAAATAAAGCCACAAAAATATTAA

hide sequence

RefSeq Acc Id:

XM_006710290 ⟹ XP_006710353

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,756,769 (+)	NCBI

Sequence:

show sequence

GGCTTCCGGCGGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTACGTGGGTGGACTGGCAGAGGAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACA
GATATTCAGATTCCTCTGGATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGAGGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTAC
AATTCGTGTCAATTTGGCCAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACTGGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGT
CAGAGCCTCCCAAAGCAGAGACCCAGGAGGTGTACATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGATGTCGTGCCCATGACAGCAGAGAATTTCCGCTGC
CTGTGCACTCATGAAAAGGGCTTTGGCTTTAAGGGAAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACCACAATGGCACTGGGGGCAAGTCCATCTATGGGAA
GAAGTTCGATGATGAAAACTTTATCCTCAAGCATACGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTCTTCCTGACATGTGACAAGACAGACTGGCTGGATG
GCAAGCATGTGGTGTTTGGAGAGGTCACCGAAGGCCTAGATGTCTTGCGGCAAATTGAGGCCCAGGGCAGCAAGGACGGGAAGCCAAAGCAGAAGGTGATCATCGCCGACTGTGGGGAGTACGTGTGA
GGCGGCACTCTCTCTGCTTCCCCCTCCGCTCTTGACCCTGCATATCCAGGAAGGAACTGCCAGCCTCAGAGGAGGCAGCACCGAGGGTGCCTGTTTGAAGCAAGCAGCATTTGGGATATGTGCCCTTC
CTCAGGGTCTGCTTGGAGCAGCTCCTCTGCAGGCACAGCCTGGACTATTCCCAGGCACAGCTGTGGGCCCAGGAGCCAGCTCAGGTGCTCCCCTCCACCATGGGCAGGCTGTGCAAAAAGCCACTGGC
TTTTCTCAGCATTTGCTGCTGGGCCTCTCCTGGGACTACCAGTGTGGCTCTTACGTGTTTTCTTTGCTAAAATAAACCCTAGTTCTTATATTGCT

hide sequence

RefSeq Acc Id:

XM_017000051 ⟹ XP_016855540

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI

Sequence:

show sequence

CCGGCGGAAAAGCGCGCGAGCAAGATGGCCACCACCAAGCGCGTCTTGTACGTGGGTGGACTGGCAGAGGAAGTGGACGACAAAGTTCTTCATGCTGCGTTCATTCCTTTTGGAGACATCACAGATAT
TCAGATTCCTCTGGATTATGAAACAGAAAAGCACCGAGGATTTGCTTTTGTTGAATTTGAGTTGGCAGAGGATGCTGCAGCAGCTATCGACAACATGAATGAATCTGAGCTTTTTGGACGTACAATTC
GTGTCAATTTGGCCAAACCAATGAGAATTAAGGAAGGCTCTTCCAGGCCAGTTTGGTCAGATGATGACTGGTTGAAGAAGTTTTCTGGGAAGACGCTTGAAGAGAATAAAGAGGAAGAAGGGTCAGAG
CCTCCCAAAGCAGAGACCCAGGAGGGAGAGCCCATTGCTAAAAAGGCCCGCTCAAATCCTCAGGTGTACATGGACATCAAGATTGGGAACAAGCCGGCTGGCCGCATCCAGATGCTCCTGCGTTCTGA
TGTCGTGCCCATGACAGCAGAGAATTTCCGCTGCCTGTGCACTCATGAAAAGGGCTTTGGCTTTAAGGGAAGCAGCTTCCACCGCATCATCCCCCAGTTCATGTGCCAGGGCGGTGATTTCACAAACC
ACAATGGCACTGGGGGCAAGTCCATCTATGGGAAGAAGTTCGATGATGAAAACTTTATCCTCAAGCATACGGGACCAGGTCTACTATCCATGGCCAACTCTGGCCCAAACACCAATGGCTCTCAGTTC
TTCCTGACATGTGACAAGACAGACTGGCTGGATGGCAAGCATGTGGTGTTTGGAGAGGTCACCGAAGGCCTAGATGTCTTGCGGCAAATTGAGGTTGCCCCAGATACCAAGGCATCAAAAGCCAGGGG
ATCCAGAAAAAACAAAGATGGCCAAGAGAGAAACTGGGGGAAAAGCCAAAAGGTTGAGAGCCACACCATCTAGAAGCTTCCTGCCTGCGGTGCGGCACAGGTGGAAACAAGAAGAGTCAGCAATTACC
AGCCAGCCGAGGTCCTGGAAGCTGACGTAGAGCTCGTGCCGACGGCAGACCTGCCGGCCGTGGGAGCCGTGGACGTCATCTGCAGGGACAGAAGGGGCAAGGTCTTTTCTGGGGTTCCTACTGTGTGC
AGCTACTATGGGGTACCAGGGTGGGGGATGCCCTGATGAGCACATTTGTCAAATAAATGAATGACAGGAAACCA

hide sequence

RefSeq Acc Id:

XM_047430061 ⟹ XP_047286017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI

RefSeq Acc Id:

XM_047430098 ⟹ XP_047286054

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI

RefSeq Acc Id:

XM_047430138 ⟹ XP_047286094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,763,914 (+)	NCBI

RefSeq Acc Id:

XM_047430164 ⟹ XP_047286120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,741,928 - 39,763,914 (+)	NCBI

RefSeq Acc Id:

XM_047430203 ⟹ XP_047286159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,882 - 39,753,052 (+)	NCBI

RefSeq Acc Id:

XM_054333830 ⟹ XP_054189805

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI

RefSeq Acc Id:

XM_054333831 ⟹ XP_054189806

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI

RefSeq Acc Id:

XM_054333832 ⟹ XP_054189807

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	39,608,324 - 39,633,355 (+)	NCBI

RefSeq Acc Id:

XM_054333833 ⟹ XP_054189808

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	39,608,324 - 39,626,209 (+)	NCBI

RefSeq Acc Id:

XM_054333834 ⟹ XP_054189809

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	39,611,366 - 39,633,355 (+)	NCBI

RefSeq Acc Id:

XM_054333835 ⟹ XP_054189810

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	39,608,324 - 39,622,492 (+)	NCBI


Protein RefSeqs	NP_001181936	(Get FASTA)	NCBI Sequence Viewer
	NP_001306222	(Get FASTA)	NCBI Sequence Viewer
	NP_006103	(Get FASTA)	NCBI Sequence Viewer
	NP_982281	(Get FASTA)	NCBI Sequence Viewer
	XP_006710353	(Get FASTA)	NCBI Sequence Viewer
	XP_016855540	(Get FASTA)	NCBI Sequence Viewer
	XP_047286017	(Get FASTA)	NCBI Sequence Viewer
	XP_047286054	(Get FASTA)	NCBI Sequence Viewer
	XP_047286094	(Get FASTA)	NCBI Sequence Viewer
	XP_047286120	(Get FASTA)	NCBI Sequence Viewer
	XP_047286159	(Get FASTA)	NCBI Sequence Viewer
	XP_054189805	(Get FASTA)	NCBI Sequence Viewer
	XP_054189806	(Get FASTA)	NCBI Sequence Viewer
	XP_054189807	(Get FASTA)	NCBI Sequence Viewer
	XP_054189808	(Get FASTA)	NCBI Sequence Viewer
	XP_054189809	(Get FASTA)	NCBI Sequence Viewer
	XP_054189810	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC00006	(Get FASTA)	NCBI Sequence Viewer
	AAC00007	(Get FASTA)	NCBI Sequence Viewer
	AAD19906	(Get FASTA)	NCBI Sequence Viewer
	AAD19907	(Get FASTA)	NCBI Sequence Viewer
	AAH04898	(Get FASTA)	NCBI Sequence Viewer
	AAH08451	(Get FASTA)	NCBI Sequence Viewer
	AAI07737	(Get FASTA)	NCBI Sequence Viewer
	AAZ93379	(Get FASTA)	NCBI Sequence Viewer
	BAF85783	(Get FASTA)	NCBI Sequence Viewer
	BAG36418	(Get FASTA)	NCBI Sequence Viewer
	BAG52903	(Get FASTA)	NCBI Sequence Viewer
	BAG65464	(Get FASTA)	NCBI Sequence Viewer
	EAX07255	(Get FASTA)	NCBI Sequence Viewer
	EAX07256	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000312769
	ENSP00000312769.5
	ENSP00000348904
	ENSP00000348904.2
	ENSP00000361918
	ENSP00000361918.1
	ENSP00000431714
	ENSP00000433475
GenBank Protein	Q9UNP9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001181936 ⟸ NM_001195007
- Peptide Label:	isoform 4
- UniProtKB:	A8KAM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATTKRVLYVGGLAEEVDDKVLHAAFIPFGDITDIQIPLDYETEKHRGFAFVEFELAEDAAAAIDNMNESELFGRTIRVNLAKPMRIKEGSSRPVWSDDDWLKKFSGKTLEENKEEEGSEPPKAETQE GEPIAKKARSNPQVYMDIKIGNKPAGRIQMLLRSDVVPMTAENFRCLCTHEKGFGFKGSSFHRIIPQFMCQGGDFTNHNGTGGKSIYGKKFDDENFILKHTGPGLLSMANSGPNTNGSQFFLTCDKTD WLDGKHVVFGEVTEGLDVLRQIEVAPDTKASKARGSRKNKDGQERNWGKSQKVESHTI hide sequence

RefSeq Acc Id:	NP_982281 ⟸ NM_203456
- Peptide Label:	isoform 2
- UniProtKB:	A8KAM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATTKRVLYVGGLAEEVDDKVLHAAFIPFGDITDIQIPLDYETEKHRGFAFVEFELAEDAAAAI DNMNESELFGRTIRVNLAKPMRIKEGSSRPVWSDDDWLKKFSGKTLEENKEEEGSEPPKAETQEGEPIAKKARSNPQVYMDIKIGNKPAGRIQMLLRSDVVPMTAENFRCLCTHEKGFGFKGSSFHRI IPQFMCQGGDFTNHNGTGGKSIYGKKFDDENFILKHTGPGLLSMANSGPNTNGSQFFLTCDKTDWLDGKHVVFGEVTEGLDVLRQIEKQEESAITSQPRSWKLT hide sequence

RefSeq Acc Id:	NP_006103 ⟸ NM_006112
- Peptide Label:	isoform 1
- UniProtKB:	Q5TGA3 (UniProtKB/Swiss-Prot), Q5TGA2 (UniProtKB/Swiss-Prot), Q5TGA0 (UniProtKB/Swiss-Prot), Q3S611 (UniProtKB/Swiss-Prot), Q32Q72 (UniProtKB/Swiss-Prot), O43635 (UniProtKB/Swiss-Prot), O43634 (UniProtKB/Swiss-Prot), B2R971 (UniProtKB/Swiss-Prot), Q9UIZ5 (UniProtKB/Swiss-Prot), Q9UNP9 (UniProtKB/Swiss-Prot), A8KAM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATTKRVLYVGGLAEEVDDKVLHAAFIPFGDITDIQIPLDYETEKHRGFAFVEFELAEDAAAAIDNMNESELFGRTIRVNLAKPMRIKEGSSRPVWSDDDWLKKFSGKTLEENKEEEGSEPPKAETQE GEPIAKKARSNPQVYMDIKIGNKPAGRIQMLLRSDVVPMTAENFRCLCTHEKGFGFKGSSFHRIIPQFMCQGGDFTNHNGTGGKSIYGKKFDDENFILKHTGPGLLSMANSGPNTNGSQFFLTCDKTD WLDGKHVVFGEVTEGLDVLRQIEAQGSKDGKPKQKVIIADCGEYV hide sequence

RefSeq Acc Id:	XP_006710353 ⟸ XM_006710290
- Peptide Label:	isoform X3
- UniProtKB:	A8KAM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATTKRVLYVGGLAEEVDDKVLHAAFIPFGDITDIQIPLDYETEKHRGFAFVEFELAEDAAAAI DNMNESELFGRTIRVNLAKPMRIKEGSSRPVWSDDDWLKKFSGKTLEENKEEEGSEPPKAETQEVYMDIKIGNKPAGRIQMLLRSDVVPMTAENFRCLCTHEKGFGFKGSSFHRIIPQFMCQGGDFTN HNGTGGKSIYGKKFDDENFILKHTGPGLLSMANSGPNTNGSQFFLTCDKTDWLDGKHVVFGEVTEGLDVLRQIEAQGSKDGKPKQKVIIADCGEYV hide sequence

RefSeq Acc Id:	NP_001306222 ⟸ NM_001319293
- Peptide Label:	isoform 5
- UniProtKB:	A8KAM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATTKRVLYVGGLAEEVDDKVLHAAFIPFGDITDIQIPLDYETEKHRGFAFVEFELAEDAAAAIDNMNESELFGRTIRVNLAKPMRIKEGSSRPVWSDDDWLKKFSGKTLEENKEEEGSEPPKAETQE VYMDIKIGNKPAGRIQMLLRSDVVPMTAENFRCLCTHEKGFGFKGSSFHRIIPQFMCQGGDFTNHNGTGGKSIYGKKFDDENFILKHTGPGLLSMANSGPNTNGSQFFLTCDKTDWLDGKHVVFGEVT EGLDVLRQIEKQEESAITSQPRSWKLT hide sequence

Protein Domains

PPIase cyclophilin-type RRM

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UNP9-F1-model_v2	AlphaFold	Q9UNP9	1-301	view protein structure

RGD ID:

6855082

Promoter ID:

EPDNEW_H706

Type:

multiple initiation site

Name:

PPIE_1

Description:

peptidylprolyl isomerase E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	39,738,892 - 39,738,952	EPDNEW

RGD ID:

6786311

Promoter ID:

HG_KWN:2168

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000372834, ENST00000372835, NM_203456, NM_203457, OTTHUMT00000025642, OTTHUMT00000025646, OTTHUMT00000025647, OTTHUMT00000025648, OTTHUMT00000025650, OTTHUMT00000025651, OTTHUMT00000025652, OTTHUMT00000025653, OTTHUMT00000025654, UC001CDU.1, UC001CDW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	39,976,814 - 39,977,314 (+)	MPROMDB

RGD ID:

6851284

Promoter ID:

EP73440

Type:

initiation region

Name:

HS_PPIE

Description:

Peptidylprolyl isomerase E (cyclophilin E).

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	39,977,151 - 39,977,211	EPD

Database	Acc Id	Source(s)
COSMIC	PPIE	COSMIC
Ensembl Genes	ENSG00000084072	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000324379	ENTREZGENE
	ENST00000324379.10	UniProtKB/Swiss-Prot
	ENST00000356511	ENTREZGENE
	ENST00000356511.6	UniProtKB/Swiss-Prot
	ENST00000372830	ENTREZGENE
	ENST00000372830.5	UniProtKB/Swiss-Prot
	ENST00000470213	ENTREZGENE
	ENST00000497370	ENTREZGENE
Gene3D-CATH	2.40.100.10	UniProtKB/Swiss-Prot
	3.30.70.330	UniProtKB/Swiss-Prot
GTEx	ENSG00000084072	GTEx
HGNC ID	HGNC:9258	ENTREZGENE
Human Proteome Map	PPIE	Human Proteome Map
InterPro	Cyclophilin-like_dom_sf	UniProtKB/Swiss-Prot
	Cyclophilin-type_PPIase_CS	UniProtKB/Swiss-Prot
	Cyclophilin-type_PPIase_dom	UniProtKB/Swiss-Prot
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot
	PPIE	UniProtKB/Swiss-Prot
	PPIE_RRM	UniProtKB/Swiss-Prot
	RBD_domain_sf	UniProtKB/Swiss-Prot
	RRM_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:10450	UniProtKB/Swiss-Prot
NCBI Gene	10450	ENTREZGENE
OMIM	602435	OMIM
PANTHER	PEPTIDYL-PROLYL CIS-TRANS ISOMERASE	UniProtKB/Swiss-Prot
	PEPTIDYL-PROLYL CIS-TRANS ISOMERASE H	UniProtKB/Swiss-Prot
Pfam	Pro_isomerase	UniProtKB/Swiss-Prot
	RRM_1	UniProtKB/Swiss-Prot
PharmGKB	PA33583	PharmGKB
PIRSF	PPI_cyclophilin_E	UniProtKB/Swiss-Prot
PRINTS	CSAPPISMRASE	UniProtKB/Swiss-Prot
PROSITE	CSA_PPIASE_1	UniProtKB/Swiss-Prot
	CSA_PPIASE_2	UniProtKB/Swiss-Prot
	RRM	UniProtKB/Swiss-Prot
SMART	RRM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF50891	UniProtKB/Swiss-Prot
	SSF54928	UniProtKB/Swiss-Prot
UniProt	A8KAM9	ENTREZGENE, UniProtKB/TrEMBL
	B2R971	ENTREZGENE
	E9PEQ6_HUMAN	UniProtKB/TrEMBL
	E9PIB0_HUMAN	UniProtKB/TrEMBL
	E9PK21	ENTREZGENE, UniProtKB/TrEMBL
	E9PKY5	ENTREZGENE, UniProtKB/TrEMBL
	E9PMH0_HUMAN	UniProtKB/TrEMBL
	H0YCV4_HUMAN	UniProtKB/TrEMBL
	H0YE31_HUMAN	UniProtKB/TrEMBL
	O43634	ENTREZGENE
	O43635	ENTREZGENE
	PPIE_HUMAN	UniProtKB/Swiss-Prot
	Q32Q72	ENTREZGENE
	Q3S611	ENTREZGENE
	Q5TGA0	ENTREZGENE
	Q5TGA2	ENTREZGENE
	Q5TGA3	ENTREZGENE
	Q9UIZ5	ENTREZGENE
	Q9UNP9	ENTREZGENE
UniProt Secondary	B2R971	UniProtKB/Swiss-Prot
	O43634	UniProtKB/Swiss-Prot
	O43635	UniProtKB/Swiss-Prot
	Q32Q72	UniProtKB/Swiss-Prot
	Q3S611	UniProtKB/Swiss-Prot
	Q5TGA0	UniProtKB/Swiss-Prot
	Q5TGA2	UniProtKB/Swiss-Prot
	Q5TGA3	UniProtKB/Swiss-Prot
	Q9UIZ5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-19	PPIE	peptidylprolyl isomerase E		peptidylprolyl isomerase E (cyclophilin E)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)