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Gene: URI1 (URI1 prefoldin like chaperone) Homo sapiens

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Symbol:

URI1

Name:

URI1 prefoldin like chaperone

RGD ID:

1321217

HGNC Page

HGNC:13236

Description:

Enables several functions, including RNA polymerase II complex binding activity; phosphoprotein binding activity; and transcription corepressor activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; negative regulation of metabolic process; and response to virus. Located in cytosol and nucleoplasm. Part of RPAP3/R2TP/prefoldin-like complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C19orf2; FLJ10575; NNX3; PPP1R19; protein phosphatase 1 regulatory subunit 19; protein phosphatase 1, regulatory subunit 19; RMP; RNA polymerase II subunit 5-mediating protein; RNA polymerase II, subunit 5-mediating protein; RPB5-mediating protein; unconventional prefoldin RPB5 interactor; unconventional prefoldin RPB5 interactor 1; URI; URI1 prefoldin-like chaperone; URI1, prefoldin like chaperone; URI1, prefoldin-like chaperone

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):	Uri1 (URI1, prefoldin-like chaperone)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Uri1 (URI1, prefoldin-like chaperone)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther
Chinchilla lanigera (long-tailed chinchilla):	Uri1 (URI1 prefoldin like chaperone)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	URI1 (URI1 prefoldin like chaperone)	NCBI	Ortholog
Canis lupus familiaris (dog):	URI1 (URI1 prefoldin like chaperone)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Uri1 (URI1 prefoldin like chaperone)	NCBI	Ortholog
Sus scrofa (pig):	URI1 (URI1 prefoldin like chaperone)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	URI1 (URI1 prefoldin like chaperone)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Uri1 (URI1 prefoldin like chaperone)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Ube3d (ubiquitin protein ligase E3D)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Uri1 (URI1, prefoldin-like chaperone)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Uri1 (URI1, prefoldin-like chaperone)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	uri1 (URI1 prefoldin like chaperone)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	uri-1	Alliance	DIOPT (InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	uri	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER)
Xenopus laevis (African clawed frog):	uri1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	uri1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	uri1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

AC245060.3

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	19	29,923,657 - 30,016,612 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	29,923,644 - 30,016,612 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	30,414,564 - 30,507,519 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	35,125,265 - 35,198,456 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	35,125,264 - 35,198,451	NCBI
Celera	19	27,127,113 - 27,200,278 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI
HuRef	19	26,921,938 - 27,014,764 (+)	NCBI		HuRef
CHM1_1	19	30,414,913 - 30,507,875 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	32,444,098 - 32,537,026 (+)	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)
URI1	Human	carcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:21397856
URI1	Human	Experimental Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:21397856
URI1	Human	Ovarian Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:21397856

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
URI1	Human	(S)-nicotine	increases expression	ISO	RGD:1321218	6480464	Nicotine results in increased expression of URI1 mRNA	CTD	PMID:17997037
URI1	Human	1,2-dichloroethane	decreases expression	ISO	RGD:1321218	6480464	ethylene dichloride results in decreased expression of URI1 mRNA	CTD	PMID:28960355
URI1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1321218	6480464	Tetrachlorodibenzodioxin results in decreased expression of URI1 mRNA	CTD	PMID:19770486
URI1	Human	3,3',4,4'-tetrachlorobiphenyl	multiple interactions	ISO	RGD:1321218	6480464	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of URI1 mRNA]	CTD	PMID:19467301
URI1	Human	3,3',5,5'-tetrabromobisphenol A	increases expression	ISO	RGD:1310358	6480464	tetrabromobisphenol A results in increased expression of URI1 mRNA	CTD	PMID:27914987
URI1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1321218	6480464	bisphenol S results in increased expression of URI1 mRNA	CTD	PMID:31881267
URI1	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of URI1 protein	CTD	PMID:38460933
URI1	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of URI1 mRNA	CTD	PMID:33167477
URI1	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of URI1 mRNA	CTD	PMID:24449571
URI1	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of URI1 mRNA	CTD	PMID:33212167
URI1	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of URI1 mRNA	CTD	PMID:22521957
URI1	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of URI1 mRNA	CTD	PMID:19150397\|PMID:20018196
URI1	Human	bisphenol A	increases expression	ISO	RGD:1321218	6480464	bisphenol A results in increased expression of URI1 mRNA	CTD	PMID:26063408
URI1	Human	bisphenol A	increases methylation	EXP		6480464	bisphenol A results in increased methylation of URI1 gene	CTD	PMID:31601247
URI1	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of URI1 gene	CTD	PMID:31601247
URI1	Human	bisphenol A	increases methylation	ISO	RGD:1310358	6480464	bisphenol A results in increased methylation of URI1 gene	CTD	PMID:28505145
URI1	Human	bisphenol A	increases expression	ISO	RGD:1310358	6480464	bisphenol A results in increased expression of URI1 mRNA	CTD	PMID:25181051\|PMID:34947998
URI1	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of URI1 mRNA	CTD	PMID:38568856
URI1	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of URI1 protein	CTD	PMID:35688186
URI1	Human	carbon nanotube	decreases expression	ISO	RGD:1321218	6480464	Nanotubes, Carbon analog results in decreased expression of URI1 mRNA; Nanotubes, Carbon results in decreased more ...	CTD	PMID:25554681
URI1	Human	chlorpyrifos	decreases expression	ISO	RGD:1321218	6480464	Chlorpyrifos results in decreased expression of URI1 mRNA	CTD	PMID:37019170
URI1	Human	cisplatin	affects response to substance	EXP		6480464	URI1 protein affects the susceptibility to Cisplatin	CTD	PMID:16217747
URI1	Human	cisplatin	decreases response to substance	EXP		6480464	URI1 results in decreased susceptibility to Cisplatin	CTD	PMID:21397856
URI1	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of URI1 mRNA	CTD	PMID:19376846
URI1	Human	corosolic acid	multiple interactions	ISO	RGD:1321218	6480464	corosolic acid inhibits the reaction [Tetradecanoylphorbol Acetate results in increased methylation of URI1 gene]	CTD	PMID:32135139
URI1	Human	coumarin	affects phosphorylation	EXP		6480464	coumarin affects the phosphorylation of URI1 protein	CTD	PMID:35688186
URI1	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of URI1 mRNA	CTD	PMID:22521957
URI1	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of URI1 mRNA	CTD	PMID:28302478
URI1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...	CTD	PMID:27188386
URI1	Human	doxorubicin	affects response to substance	EXP		6480464	URI1 protein affects the susceptibility to Doxorubicin	CTD	PMID:16217747
URI1	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation more ...	CTD	PMID:23301498
URI1	Human	fenofibrate	increases expression	ISO	RGD:1321218	6480464	Fenofibrate results in increased expression of URI1 mRNA	CTD	PMID:21318169
URI1	Human	fenofibrate	multiple interactions	ISO	RGD:1321218	6480464	PPARA protein affects the reaction [Fenofibrate results in increased expression of URI1 mRNA]	CTD	PMID:21318169
URI1	Human	flutamide	increases expression	ISO	RGD:1310358	6480464	Flutamide results in increased expression of URI1 mRNA	CTD	PMID:24136188
URI1	Human	folic acid	decreases expression	ISO	RGD:1321218	6480464	Folic Acid results in decreased expression of URI1 mRNA	CTD	PMID:25629700
URI1	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of URI1 mRNA	CTD	PMID:20655997
URI1	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of URI1 gene	CTD	PMID:31601247
URI1	Human	gentamycin	decreases expression	ISO	RGD:1310358	6480464	Gentamicins results in decreased expression of URI1 mRNA	CTD	PMID:33387578
URI1	Human	hexadecanoic acid	increases phosphorylation	EXP		6480464	Palmitic Acid results in increased phosphorylation of URI1 protein	CTD	PMID:28073184
URI1	Human	kainic acid	increases expression	ISO	RGD:1321218	6480464	Kainic Acid results in increased expression of URI1 mRNA	CTD	PMID:17997037
URI1	Human	leflunomide	decreases expression	EXP		6480464	leflunomide results in decreased expression of URI1 mRNA	CTD	PMID:28988120
URI1	Human	methapyrilene	decreases expression	ISO	RGD:1310358	6480464	Methapyrilene results in decreased expression of URI1 mRNA	CTD	PMID:30467583
URI1	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of URI1 mRNA	CTD	PMID:23649840
URI1	Human	methylparaben	increases expression	EXP		6480464	methylparaben results in increased expression of URI1 mRNA	CTD	PMID:31745603
URI1	Human	nefazodone	increases expression	ISO	RGD:1310358	6480464	nefazodone results in increased expression of URI1 mRNA	CTD	PMID:24136188
URI1	Human	nicotine	increases expression	ISO	RGD:1321218	6480464	Nicotine results in increased expression of URI1 mRNA	CTD	PMID:17997037
URI1	Human	nimesulide	increases expression	ISO	RGD:1310358	6480464	nimesulide results in increased expression of URI1 mRNA	CTD	PMID:24136188
URI1	Human	nitrates	multiple interactions	ISO	RGD:1321218	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of URI1 more ...	CTD	PMID:35964746
URI1	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of URI1 protein	CTD	PMID:38460933
URI1	Human	oxaliplatin	multiple interactions	ISO	RGD:1310358	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of URI1 mRNA	CTD	PMID:25729387
URI1	Human	phenobarbital	affects expression	ISO	RGD:1321218	6480464	Phenobarbital affects the expression of URI1 mRNA	CTD	PMID:23091169
URI1	Human	phenylmercury acetate	decreases expression	EXP		6480464	Phenylmercuric Acetate results in decreased expression of URI1 mRNA	CTD	PMID:26272509
URI1	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...	CTD	PMID:27188386
URI1	Human	phorbol 13-acetate 12-myristate	increases methylation	ISO	RGD:1321218	6480464	Tetradecanoylphorbol Acetate results in increased methylation of URI1 gene	CTD	PMID:32135139
URI1	Human	phorbol 13-acetate 12-myristate	multiple interactions	ISO	RGD:1321218	6480464	corosolic acid inhibits the reaction [Tetradecanoylphorbol Acetate results in increased methylation of URI1 gene]	CTD	PMID:32135139
URI1	Human	propiconazole	decreases expression	ISO	RGD:1321218	6480464	propiconazole results in decreased expression of URI1 mRNA	CTD	PMID:21278054
URI1	Human	quercetin	decreases phosphorylation	EXP		6480464	Quercetin results in decreased phosphorylation of URI1 protein	CTD	PMID:35688186
URI1	Human	rotenone	decreases expression	ISO	RGD:1310358	6480464	Rotenone results in decreased expression of URI1 mRNA	CTD	PMID:19013527
URI1	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...	CTD	PMID:27188386
URI1	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide results in decreased expression of URI1 mRNA	CTD	PMID:25351596
URI1	Human	sirolimus	decreases response to substance	EXP		6480464	URI1 results in decreased susceptibility to Sirolimus	CTD	PMID:21397856
URI1	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of URI1 mRNA	CTD	PMID:31533062
URI1	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of URI1 mRNA	CTD	PMID:31758290
URI1	Human	thioacetamide	increases expression	ISO	RGD:1310358	6480464	Thioacetamide results in increased expression of URI1 mRNA	CTD	PMID:23411599\|PMID:34492290
URI1	Human	topotecan	multiple interactions	ISO	RGD:1310358	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of URI1 mRNA	CTD	PMID:25729387
URI1	Human	topotecan	decreases expression	ISO	RGD:1310358	6480464	Topotecan results in decreased expression of URI1 mRNA	CTD	PMID:25729387
URI1	Human	topotecan	affects response to substance	EXP		6480464	URI1 protein affects the susceptibility to Topotecan	CTD	PMID:16217747
URI1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of URI1 mRNA	CTD	PMID:37042841
URI1	Human	valdecoxib	increases expression	ISO	RGD:1310358	6480464	valdecoxib results in increased expression of URI1 mRNA	CTD	PMID:24136188
URI1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of URI1 gene	CTD	PMID:29154799
URI1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of URI1 mRNA	CTD	PMID:25979313
URI1	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of URI1 mRNA	CTD	PMID:23179753\|PMID:27188386

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)
URI1	Human	cellular response to growth factor stimulus	involved_in	IDA		150520179	PMID:17936702	UniProt	PMID:17936702
URI1	Human	cellular response to steroid hormone stimulus	involved_in	IDA		150520179	PMID:21730289	UniProt	PMID:21730289
URI1	Human	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	involved_in	IBA	PANTHER:PTN001031468\|WB:WBGene00016944	150520179		GO_Central	GO_REF:0000033
URI1	Human	negative regulation of intrinsic apoptotic signaling pathway	involved_in	IMP		150520179	PMID:17936702	UniProt	PMID:17936702
URI1	Human	negative regulation of intrinsic apoptotic signaling pathway	involved_in	IBA	PANTHER:PTN000387656\|UniProtKB:O94763	150520179		GO_Central	GO_REF:0000033
URI1	Human	negative regulation of phosphatase activity	involved_in	IMP		150520179	PMID:17936702	UniProt	PMID:17936702
URI1	Human	negative regulation of transcription by RNA polymerase II	involved_in	IBA	PANTHER:PTN000387656\|UniProtKB:O94763	150520179		GO_Central	GO_REF:0000033
URI1	Human	negative regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:12737519, PMID:15367675, PMID:21730289	UniProt	PMID:12737519\|PMID:15367675\|PMID:21730289
URI1	Human	protein stabilization	involved_in	NAS		150520179	PMID:29662061, PMID:31738558	ComplexPortal	PMID:29662061\|PMID:31738558
URI1	Human	regulation of cell growth	involved_in	IDA		150520179	PMID:21730289	UniProt	PMID:21730289
URI1	Human	regulation of transcription by RNA polymerase II	involved_in	IMP		150520179	PMID:9819440	UniProt	PMID:9819440
URI1	Human	response to virus	involved_in	IMP		150520179	PMID:9819440	UniProt	PMID:9819440

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)
URI1	Human	cell projection	located_in	IEA	UniProtKB-KW:KW-0966	150520179		UniProt	GO_REF:0000043
URI1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
URI1	Human	cytoplasm	located_in	IDA		150520179	PMID:15367675, PMID:17936702, PMID:21730289	UniProt	PMID:15367675\|PMID:17936702\|PMID:21730289
URI1	Human	cytoplasm	located_in	TAS		150520179	PMID:9878255	PINC	PMID:9878255
URI1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
URI1	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
URI1	Human	dendrite	located_in	IEA	UniProtKB-SubCell:SL-0283	150520179		UniProt	GO_REF:0000044
URI1	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
URI1	Human	mitochondrion	located_in	IEA	UniProtKB-SubCell:SL-0173	150520179		UniProt	GO_REF:0000044
URI1	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
URI1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
URI1	Human	nucleus	located_in	TAS		150520179	PMID:9878255	PINC	PMID:9878255
URI1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
URI1	Human	nucleus	located_in	IDA		150520179	PMID:15367675, PMID:17936702, PMID:21730289	UniProt	PMID:15367675\|PMID:17936702\|PMID:21730289
URI1	Human	protein folding chaperone complex	part_of	NAS		150520179	PMID:29662061	ComplexPortal	PMID:29662061
URI1	Human	protein-containing complex	part_of	IEA	ARBA:ARBA00028902	150520179		UniProt	GO_REF:0000117
URI1	Human	RPAP3/R2TP/prefoldin-like complex	part_of	IPI		150520179	PMID:31738558	ComplexPortal	PMID:31738558

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)
URI1	Human	chromatin binding	enables	IDA		150520179	PMID:21730289	UniProt	PMID:21730289
URI1	Human	chromatin binding	enables	IBA	PANTHER:PTN000387656\|UniProtKB:O94763	150520179		GO_Central	GO_REF:0000033
URI1	Human	phosphatase inhibitor activity	enables	IBA	FB:FBgn0035025\|PANTHER:PTN000387656	150520179		GO_Central	GO_REF:0000033
URI1	Human	phosphoprotein binding	enables	IPI	UniProtKB:Q9Y4R8	150520179	PMID:20864032	UniProt	PMID:20864032
URI1	Human	protein binding	enables	IPI	UniProtKB:P13984	150520179	PMID:20195357	IntAct	PMID:20195357
URI1	Human	protein binding	enables	IPI	UniProtKB:P19388	150520179	PMID:24981860	IntAct	PMID:24981860
URI1	Human	protein binding	enables	IPI	UniProtKB:P23443\|UniProtKB:P36873\|UniProtKB:Q9NQP4\|UniProtKB:Q9UHV9\|UniProtKB:Q9ULZ2	150520179	PMID:17936702	UniProt	PMID:17936702
URI1	Human	protein binding	enables	IPI	UniProtKB:O15294\|UniProtKB:P36873	150520179	PMID:27505673	IntAct	PMID:27505673
URI1	Human	protein binding	enables	IPI	UniProtKB:P36873	150520179	PMID:21397856, PMID:24366813, PMID:26496610, PMID:28330616	IntAct	PMID:21397856\|PMID:24366813\|PMID:26496610\|PMID:28330616
URI1	Human	protein binding	enables	IPI	UniProtKB:P19785\|UniProtKB:P30561	150520179	PMID:25453901	IntAct	PMID:25453901
URI1	Human	protein binding	enables	IPI	UniProtKB:P13984\|UniProtKB:P19388\|UniProtKB:P35269	150520179	PMID:12737519	UniProt	PMID:12737519
URI1	Human	protein binding	enables	IPI	UniProtKB:Q9NPF5	150520179	PMID:15367675	UniProt	PMID:15367675
URI1	Human	protein binding	enables	IPI	UniProtKB:Q9UBK9	150520179	PMID:21730289	UniProt	PMID:21730289
URI1	Human	protein binding	enables	IPI	UniProtKB:P49815\|UniProtKB:Q92574	150520179	PMID:28561026	UniProt	PMID:28561026
URI1	Human	protein binding	enables	IPI	UniProtKB:O76071	150520179	PMID:32296183	IntAct	PMID:32296183
URI1	Human	protein binding	enables	IPI	UniProtKB:P19388\|UniProtKB:Q9UHV9	150520179	PMID:15923622	IntAct	PMID:15923622
URI1	Human	protein binding	enables	IPI	UniProtKB:Q15185\|UniProtKB:Q9H6T3\|UniProtKB:Q9UHV9	150520179	PMID:25036637	IntAct	PMID:25036637
URI1	Human	protein binding	enables	IPI	UniProtKB:P19388\|UniProtKB:Q15185	150520179	PMID:35271311	IntAct	PMID:35271311
URI1	Human	protein binding	enables	IPI	UniProtKB:P19388\|UniProtKB:P36873\|UniProtKB:Q15185\|UniProtKB:Q9H6T3\|UniProtKB:Q9UHV9	150520179	PMID:33961781	IntAct	PMID:33961781
URI1	Human	protein phosphatase inhibitor activity	enables	IEA	UniProtKB-KW:KW-0650	150520179		UniProt	GO_REF:0000043
URI1	Human	RNA polymerase II complex binding	enables	IDA		150520179	PMID:9819440	UniProt	PMID:9819440
URI1	Human	transcription corepressor activity	enables	IMP		150520179	PMID:9819440	UniProt	PMID:9819440
URI1	Human	transcription corepressor activity	enables	IBA	PANTHER:PTN000387656\|UniProtKB:O94763	150520179		GO_Central	GO_REF:0000033
URI1	Human	transcription corepressor activity	enables	IDA		150520179	PMID:12737519, PMID:15367675, PMID:21730289	UniProt	PMID:12737519\|PMID:15367675\|PMID:21730289

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
URI1	Human	Abnormality of neuronal migration		IAGP	RGD:10411784	8554872	ClinVar Annotator: match by term: Abnormality of neuronal migration	ClinVar
URI1	Human	Abnormality of neuronal migration		IAGP	RGD:10411819	8554872	ClinVar Annotator: match by term: Abnormality of neuronal migration	ClinVar

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:9819440	PMID:9878255	PMID:11827465	PMID:12477932	PMID:12737519	PMID:14615539	PMID:14702039	PMID:15367675	PMID:15923622	PMID:16055720	PMID:17081983	PMID:17643375
PMID:17936702	PMID:19450687	PMID:19490893	PMID:19875381	PMID:20195357	PMID:20371770	PMID:20379614	PMID:20864032	PMID:21310960	PMID:21397856	PMID:21730289	PMID:21832049
PMID:21873635	PMID:21948523	PMID:23667685	PMID:24104479	PMID:24228101	PMID:24366813	PMID:24625985	PMID:24981860	PMID:25036637	PMID:25453901	PMID:25476789	PMID:25527175
PMID:25544563	PMID:25605019	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26638075	PMID:26673895	PMID:26972000	PMID:27105489	PMID:27173435	PMID:27505673	PMID:27582547
PMID:27780869	PMID:27880917	PMID:28330616	PMID:28423737	PMID:28514442	PMID:28515276	PMID:28561026	PMID:28611215	PMID:28675297	PMID:28977470	PMID:29229926	PMID:29507755
PMID:29662061	PMID:30344098	PMID:30554943	PMID:30745168	PMID:31048545	PMID:31541481	PMID:31617661	PMID:31738558	PMID:31739577	PMID:32060556	PMID:32296183	PMID:32513696
PMID:32707033	PMID:33001583	PMID:33961781	PMID:34079125	PMID:34186245	PMID:34373451	PMID:34421352	PMID:34709727	PMID:34941261	PMID:35007762	PMID:35271311	PMID:35384245
PMID:35676246	PMID:35831314	PMID:36215168	PMID:36897256	PMID:37267103	PMID:37689310	PMID:37931956

URI1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	29,923,657 - 30,016,612 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	29,923,644 - 30,016,612 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	30,414,564 - 30,507,519 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	35,125,265 - 35,198,456 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	35,125,264 - 35,198,451	NCBI
Celera	19	27,127,113 - 27,200,278 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI
HuRef	19	26,921,938 - 27,014,764 (+)	NCBI		HuRef
CHM1_1	19	30,414,913 - 30,507,875 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	32,444,098 - 32,537,026 (+)	NCBI		T2T-CHM13v2.0

Uri1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	37,659,417 - 37,722,989 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	37,659,417 - 37,722,976 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	37,959,992 - 38,023,564 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	37,959,992 - 38,023,551 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	38,745,011 - 38,804,571 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	37,668,762 - 37,728,302 (-)	NCBI		MGSCv36	mm8
Celera	7	33,115,193 - 33,174,905 (-)	NCBI		Celera
Cytogenetic Map	7	B3	NCBI
cM Map	7	25.29	NCBI

Uri1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	99,783,157 - 99,845,787 (-)	NCBI		GRCr8
mRatBN7.2	1	90,646,392 - 90,704,811 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	90,646,393 - 90,709,026 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	96,042,091 - 96,100,337 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	104,508,003 - 104,566,253 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	97,800,408 - 97,858,651 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	94,346,513 - 94,404,362 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	94,346,514 - 94,404,211 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	95,435,846 - 95,493,474 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	90,430,169 - 90,490,153 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	90,508,282 - 90,568,264 (-)	NCBI
Celera	1	84,979,704 - 85,037,972 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Uri1
(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_004955468	7,648,456 - 7,718,074 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955468	7,651,061 - 7,718,968 (-)	NCBI	ChiLan1.0	ChiLan1.0

URI1
(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	20	35,898,365 - 35,991,008 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	37,895,424 - 37,988,046 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	26,865,190 - 26,939,510 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	35,621,130 - 35,694,390 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	35,601,872 - 35,694,273 (+)	Ensembl	panpan1.1		panPan2

URI1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	121,528,706 - 121,612,200 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	121,530,203 - 121,614,909 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	120,897,395 - 120,980,814 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	122,157,827 - 122,241,288 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	122,157,537 - 122,241,879 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	121,737,554 - 121,820,951 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	121,344,096 - 121,427,703 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	122,409,100 - 122,492,731 (-)	NCBI		UU_Cfam_GSD_1.0

Uri1
(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_024409349	6,238,300 - 6,266,629 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936570	5,376,658 - 5,419,345 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936570	5,379,253 - 5,419,595 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

URI1
(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	40,023,595 - 40,110,536 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	40,043,320 - 40,110,540 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	35,409,250 - 35,476,422 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

URI1
(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	6	25,005,512 - 25,078,054 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	25,005,316 - 25,078,541 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	2,546,698 - 2,620,295 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Uri1
(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_004624794	5,060,061 - 5,125,969 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624794	5,059,961 - 5,126,771 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in URI1
55 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	copy number gain	See cases [RCV000050635]	Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11	pathogenic
NM_001252641.1(URI1):c.98+117T>G	single nucleotide variant	Lung cancer [RCV000101185]	Chr19:29971344 [GRCh38] Chr19:30462251 [GRCh37] Chr19:19q12	uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	copy number loss	See cases [RCV000135879]	Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13	pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	copy number loss	See cases [RCV000136794]	Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13	pathogenic
GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	copy number loss	See cases [RCV000141953]	Chr19:29051888..31967596 [GRCh38] Chr19:29542795..32458502 [GRCh37] Chr19:34234635..37150342 [NCBI36] Chr19:19q12-13.11	likely pathogenic\|uncertain significance
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	copy number gain	See cases [RCV000143705]	Chr19:27780238..34783942 [GRCh38] Chr19:28271146..35274846 [GRCh37] Chr19:32962986..39966686 [NCBI36] Chr19:19q11-13.11	uncertain significance
NM_001252641.2(URI1):c.33C>A (p.His11Gln)	single nucleotide variant	Abnormality of neuronal migration [RCV000201340]	Chr19:29923724 [GRCh38] Chr19:30414631 [GRCh37] Chr19:19q12	benign\|uncertain significance
NM_003796.3(URI1):c.698C>T (p.Thr233Ile)	single nucleotide variant	Abnormality of neuronal migration [RCV000201379]	Chr19:30009016 [GRCh38] Chr19:30499923 [GRCh37] Chr19:19q12	benign
GRCh37/hg19 19q12(chr19:29830628-31395657)x3	copy number gain	See cases [RCV000447509]	Chr19:29830628..31395657 [GRCh37] Chr19:19q12	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19q12(chr19:30112378-31939682)x3	copy number gain	See cases [RCV000512411]	Chr19:30112378..31939682 [GRCh37] Chr19:19q12	likely pathogenic
GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	copy number loss	See cases [RCV000512455]	Chr19:28271107..31110233 [GRCh37] Chr19:19q11-12	likely pathogenic
GRCh37/hg19 19q12(chr19:29083484-31804809)x3	copy number gain	not provided [RCV000684093]	Chr19:29083484..31804809 [GRCh37] Chr19:19q12	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q12(chr19:30328828-30593549)x3	copy number gain	not provided [RCV000740124]	Chr19:30328828..30593549 [GRCh37] Chr19:19q12	benign
NM_003796.3(URI1):c.303G>C (p.Gly101=)	single nucleotide variant	not provided [RCV000923448]	Chr19:29986353 [GRCh38] Chr19:30477260 [GRCh37] Chr19:19q12	likely benign
NM_003796.3(URI1):c.333G>A (p.Lys111=)	single nucleotide variant	not provided [RCV000925222]	Chr19:29986383 [GRCh38] Chr19:30477290 [GRCh37] Chr19:19q12	likely benign
GRCh37/hg19 19q12(chr19:30422224-30902373)x1	copy number loss	not provided [RCV000847702]	Chr19:30422224..30902373 [GRCh37] Chr19:19q12	uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NM_003796.3(URI1):c.1461A>G (p.Val487=)	single nucleotide variant	not provided [RCV000964438]	Chr19:30014922 [GRCh38] Chr19:30505829 [GRCh37] Chr19:19q12	benign\|likely benign
GRCh37/hg19 19q12(chr19:29739728-31053524)x3	copy number gain	not provided [RCV001259935]	Chr19:29739728..31053524 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.443T>G (p.Leu148Trp)	single nucleotide variant	not specified [RCV004685352]	Chr19:30005436 [GRCh38] Chr19:30496343 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.114A>G (p.Glu38=)	single nucleotide variant	not specified [RCV004685354]	Chr19:29942661 [GRCh38] Chr19:30433568 [GRCh37] Chr19:19q12	likely benign
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	copy number gain	Specific learning disability [RCV001801194]	Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2	pathogenic
NM_003796.3(URI1):c.970G>C (p.Ala324Pro)	single nucleotide variant	not specified [RCV004088366]	Chr19:30009288 [GRCh38] Chr19:30500195 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.866C>T (p.Ser289Leu)	single nucleotide variant	not specified [RCV004159744]	Chr19:30009184 [GRCh38] Chr19:30500091 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.85G>A (p.Asp29Asn)	single nucleotide variant	not specified [RCV004242151]	Chr19:29942632 [GRCh38] Chr19:30433539 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.590A>G (p.Asn197Ser)	single nucleotide variant	not specified [RCV004096475]	Chr19:30007542 [GRCh38] Chr19:30498449 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.874G>A (p.Gly292Ser)	single nucleotide variant	not specified [RCV004227548]	Chr19:30009192 [GRCh38] Chr19:30500099 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1377A>C (p.Glu459Asp)	single nucleotide variant	not specified [RCV004246590]	Chr19:30012483 [GRCh38] Chr19:30503390 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.938T>A (p.Ile313Asn)	single nucleotide variant	not specified [RCV004169267]	Chr19:30009256 [GRCh38] Chr19:30500163 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1345A>C (p.Ser449Arg)	single nucleotide variant	not specified [RCV004185167]	Chr19:30012451 [GRCh38] Chr19:30503358 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.173A>G (p.Tyr58Cys)	single nucleotide variant	not specified [RCV004145138]	Chr19:29985243 [GRCh38] Chr19:30476150 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.469G>T (p.Asp157Tyr)	single nucleotide variant	not specified [RCV004167987]	Chr19:30005660 [GRCh38] Chr19:30496567 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.374G>A (p.Arg125Lys)	single nucleotide variant	not specified [RCV004260593]	Chr19:30005367 [GRCh38] Chr19:30496274 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.669G>C (p.Leu223Phe)	single nucleotide variant	not specified [RCV004271057]	Chr19:30007621 [GRCh38] Chr19:30498528 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.485G>A (p.Arg162Gln)	single nucleotide variant	not specified [RCV004261619]	Chr19:30005676 [GRCh38] Chr19:30496583 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1516C>G (p.Pro506Ala)	single nucleotide variant	not specified [RCV004274177]	Chr19:30014977 [GRCh38] Chr19:30505884 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1013C>T (p.Ser338Leu)	single nucleotide variant	not specified [RCV004354627]	Chr19:30009331 [GRCh38] Chr19:30500238 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.243C>T (p.Gly81=)	single nucleotide variant	not provided [RCV003429168]	Chr19:29986293 [GRCh38] Chr19:30477200 [GRCh37] Chr19:19q12	likely benign
NM_003796.3(URI1):c.102C>G (p.Arg34=)	single nucleotide variant	not provided [RCV003425085]	Chr19:29942649 [GRCh38] Chr19:30433556 [GRCh37] Chr19:19q12	benign
NM_003796.3(URI1):c.931G>A (p.Asp311Asn)	single nucleotide variant	not provided [RCV003429169]\|not specified [RCV004364561]	Chr19:30009249 [GRCh38] Chr19:30500156 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.771G>A (p.Ala257=)	single nucleotide variant	not provided [RCV003415178]	Chr19:30009089 [GRCh38] Chr19:30499996 [GRCh37] Chr19:19q12	likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	copy number gain	not specified [RCV003986115]	Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2	pathogenic
NM_003796.3(URI1):c.921C>T (p.Asp307=)	single nucleotide variant	not provided [RCV003885830]	Chr19:30009239 [GRCh38] Chr19:30500146 [GRCh37] Chr19:19q12	likely benign
NM_003796.3(URI1):c.473T>C (p.Ile158Thr)	single nucleotide variant	not specified [RCV004482356]	Chr19:30005664 [GRCh38] Chr19:30496571 [GRCh37] Chr19:19q12	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_003796.3(URI1):c.356A>G (p.His119Arg)	single nucleotide variant	not specified [RCV004685355]	Chr19:29986406 [GRCh38] Chr19:30477313 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1112A>T (p.Asn371Ile)	single nucleotide variant	not specified [RCV004482349]	Chr19:30011170 [GRCh38] Chr19:30502077 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1445T>C (p.Ile482Thr)	single nucleotide variant	not specified [RCV004482350]	Chr19:30014906 [GRCh38] Chr19:30505813 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.21G>C (p.Glu7Asp)	single nucleotide variant	not specified [RCV004482352]	Chr19:29942568 [GRCh38] Chr19:30433475 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.34C>T (p.Pro12Ser)	single nucleotide variant	not specified [RCV004482353]	Chr19:29942581 [GRCh38] Chr19:30433488 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.449A>G (p.Lys150Arg)	single nucleotide variant	not specified [RCV004482354]	Chr19:30005442 [GRCh38] Chr19:30496349 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.44C>T (p.Pro15Leu)	single nucleotide variant	not specified [RCV004482355]	Chr19:29942591 [GRCh38] Chr19:30433498 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.559A>G (p.Thr187Ala)	single nucleotide variant	not specified [RCV004482357]	Chr19:30007511 [GRCh38] Chr19:30498418 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.740A>G (p.Glu247Gly)	single nucleotide variant	not specified [RCV004482358]	Chr19:30009058 [GRCh38] Chr19:30499965 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.80C>G (p.Ala27Gly)	single nucleotide variant	not specified [RCV004482359]	Chr19:29942627 [GRCh38] Chr19:30433534 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.980T>C (p.Val327Ala)	single nucleotide variant	not specified [RCV004482361]	Chr19:30009298 [GRCh38] Chr19:30500205 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1411T>C (p.Ser471Pro)	single nucleotide variant	not specified [RCV004685353]	Chr19:30012517 [GRCh38] Chr19:30503424 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.695A>T (p.Asp232Val)	single nucleotide variant	not specified [RCV004685350]	Chr19:30009013 [GRCh38] Chr19:30499920 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.271G>T (p.Val91Phe)	single nucleotide variant	not specified [RCV004685351]	Chr19:29986321 [GRCh38] Chr19:30477228 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1303C>T (p.Arg435Trp)	single nucleotide variant	not specified [RCV004685349]	Chr19:30012409 [GRCh38] Chr19:30503316 [GRCh37] Chr19:19q12	uncertain significance
GRCh37/hg19 19q11-12(chr19:28271107-31269080)x3	copy number gain	not provided [RCV004819644]	Chr19:28271107..31269080 [GRCh37] Chr19:19q11-12	uncertain significance
GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1	copy number loss	not provided [RCV004819395]	Chr19:28271107..38637350 [GRCh37] Chr19:19q11-13.13	pathogenic
NM_003796.3(URI1):c.1420C>G (p.Pro474Ala)	single nucleotide variant	not specified [RCV004876602]	Chr19:30012526 [GRCh38] Chr19:30503433 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1316G>T (p.Arg439Met)	single nucleotide variant	not specified [RCV004887975]	Chr19:30012422 [GRCh38] Chr19:30503329 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1330G>A (p.Glu444Lys)	single nucleotide variant	not specified [RCV004887974]	Chr19:30012436 [GRCh38] Chr19:30503343 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.751C>T (p.Arg251Cys)	single nucleotide variant	not specified [RCV004876596]	Chr19:30009069 [GRCh38] Chr19:30499976 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1150A>T (p.Thr384Ser)	single nucleotide variant	not specified [RCV004876598]	Chr19:30011208 [GRCh38] Chr19:30502115 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1483C>T (p.Pro495Ser)	single nucleotide variant	not specified [RCV004876595]	Chr19:30014944 [GRCh38] Chr19:30505851 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.544C>T (p.His182Tyr)	single nucleotide variant	not specified [RCV004876600]	Chr19:30007496 [GRCh38] Chr19:30498403 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.973T>A (p.Leu325Ile)	single nucleotide variant	not specified [RCV004876601]	Chr19:30009291 [GRCh38] Chr19:30500198 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.1139A>T (p.Gln380Leu)	single nucleotide variant	not specified [RCV004876603]	Chr19:30011197 [GRCh38] Chr19:30502104 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.530T>C (p.Ile177Thr)	single nucleotide variant	not specified [RCV004876604]	Chr19:30007482 [GRCh38] Chr19:30498389 [GRCh37] Chr19:19q12	uncertain significance
NM_003796.3(URI1):c.94C>T (p.Arg32Trp)	single nucleotide variant	not specified [RCV004876597]	Chr19:29942641 [GRCh38] Chr19:30433548 [GRCh37] Chr19:19q12	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2818
Count of miRNA genes:	899
Interacting mature miRNAs:	1051
Transcripts:	ENST00000312051, ENST00000360605, ENST00000392271, ENST00000542441, ENST00000570564, ENST00000570704, ENST00000573052, ENST00000574110, ENST00000574176, ENST00000574233, ENST00000574666, ENST00000574766, ENST00000575242, ENST00000576442, ENST00000585655
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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
1300034	BP50_H	Blood pressure QTL 50 (human)	2.1	0.00094	Blood pressure	systolic	19	11089463	37089463	Human

RH12894

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,506,297 - 30,506,464	UniSTS	GRCh37
Build 36	19	35,198,137 - 35,198,304	RGD	NCBI36
Celera	19	27,199,959 - 27,200,126	RGD
Cytogenetic Map	19	q12	UniSTS
HuRef	19	27,013,542 - 27,013,709	UniSTS
GeneMap99-GB4 RH Map	19	157.32	UniSTS
NCBI RH Map	19	287.4	UniSTS

STS-R63092

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,507,373 - 30,507,496	UniSTS	GRCh37
Build 36	19	35,199,213 - 35,199,336	RGD	NCBI36
Celera	19	27,201,035 - 27,201,158	RGD
Cytogenetic Map	19	q12	UniSTS
HuRef	19	27,014,618 - 27,014,741	UniSTS
GeneMap99-GB4 RH Map	19	180.67	UniSTS
NCBI RH Map	19	291.4	UniSTS

RH45535

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,467,256 - 30,467,391	UniSTS	GRCh37
Build 36	19	35,159,096 - 35,159,231	RGD	NCBI36
Celera	19	27,160,942 - 27,161,077	RGD
Cytogenetic Map	19	q12	UniSTS
HuRef	19	26,974,520 - 26,974,655	UniSTS

STS-Z41049

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,506,377 - 30,506,456	UniSTS	GRCh37
Build 36	19	35,198,217 - 35,198,296	RGD	NCBI36
Celera	19	27,200,039 - 27,200,118	RGD
Cytogenetic Map	19	q12	UniSTS
HuRef	19	27,013,622 - 27,013,701	UniSTS
GeneMap99-GB4 RH Map	19	181.52	UniSTS
NCBI RH Map	19	287.4	UniSTS

px-16e8

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,487,734 - 30,487,834	UniSTS	GRCh37
GRCh37	4	91,332,612 - 91,333,851	UniSTS	GRCh37
Build 36	19	35,179,574 - 35,179,674	RGD	NCBI36
Celera	4	88,629,768 - 88,631,007	UniSTS
Celera	19	27,181,395 - 27,181,495	RGD
HuRef	19	26,994,972 - 26,995,072	UniSTS
HuRef	4	87,083,500 - 87,084,739	UniSTS

SGC30870

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,472,634 - 30,472,759	UniSTS	GRCh37
Build 36	19	35,164,474 - 35,164,599	RGD	NCBI36
Celera	19	27,166,324 - 27,166,449	RGD
Cytogenetic Map	19	q12	UniSTS
HuRef	19	26,979,898 - 26,980,023	UniSTS
Whitehead-RH Map	19	216.1	UniSTS

SHGC-30736

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	30,505,599 - 30,505,748	UniSTS	GRCh37
Build 36	19	35,197,439 - 35,197,588	RGD	NCBI36
Celera	19	27,199,261 - 27,199,410	RGD
Cytogenetic Map	19	q12	UniSTS
HuRef	19	27,012,844 - 27,012,993	UniSTS
Stanford-G3 RH Map	19	1173.0	UniSTS
GeneMap99-GB4 RH Map	19	158.8	UniSTS
Whitehead-RH Map	19	214.8	UniSTS
NCBI RH Map	19	289.6	UniSTS
GeneMap99-G3 RH Map	19	1184.0	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_047095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001252641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_045557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005259362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005259363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322484	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA678820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF091095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK226173	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW003989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW954529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC026184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG742069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB461036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HQ234306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000360605 ⟹ ENSP00000353817

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,923,644 - 30,015,695 (+)	Ensembl

Ensembl Acc Id:

ENST00000392271 ⟹ ENSP00000376097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,942,239 - 30,016,612 (+)	Ensembl

Ensembl Acc Id:

ENST00000570564 ⟹ ENSP00000459966

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,923,657 - 29,986,377 (+)	Ensembl

Ensembl Acc Id:

ENST00000570704

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,983,233 - 30,007,579 (+)	Ensembl

Ensembl Acc Id:

ENST00000573052 ⟹ ENSP00000458161

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	30,012,423 - 30,015,026 (+)	Ensembl

Ensembl Acc Id:

ENST00000574110 ⟹ ENSP00000461003

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,942,261 - 30,015,704 (+)	Ensembl

Ensembl Acc Id:

ENST00000574176

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	30,004,295 - 30,009,019 (+)	Ensembl

Ensembl Acc Id:

ENST00000574233 ⟹ ENSP00000458480

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,923,691 - 30,005,436 (+)	Ensembl

Ensembl Acc Id:

ENST00000574666 ⟹ ENSP00000458533

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,942,311 - 30,005,706 (+)	Ensembl

Ensembl Acc Id:

ENST00000574766

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,923,712 - 29,937,997 (+)	Ensembl

Ensembl Acc Id:

ENST00000575242 ⟹ ENSP00000459450

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	30,009,080 - 30,012,899 (+)	Ensembl

Ensembl Acc Id:

ENST00000576442 ⟹ ENSP00000461895

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,971,093 - 30,007,547 (+)	Ensembl

Ensembl Acc Id:

ENST00000585655 ⟹ ENSP00000468048

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	29,923,734 - 29,925,897 (+)	Ensembl

RefSeq Acc Id:

NM_001252641 ⟹ NP_001239570

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,923,657 - 30,016,612 (+)	NCBI
GRCh37	19	30,414,551 - 30,507,519 (+)	NCBI
HuRef	19	26,921,938 - 27,014,764 (+)	NCBI
CHM1_1	19	30,414,913 - 30,507,875 (+)	NCBI
T2T-CHM13v2.0	19	32,444,098 - 32,537,026 (+)	NCBI

Sequence:

show sequence

ACTCTTTTCCAGGCTCCTTGGAGGTCACTGCCCTGATGACAACATGGTCTTCCCTTCAAGGAAGCCACGTTTCTAAGAGGGCTCTGGCATATGCATTGGTGGTCACTAACTGCCAAGAGAGAATCCAG
CATTGGAAGAAGGTAGATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCATGCCAGGAAAACTTGTCCA
TACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGA
TGAAAAATTTTGAATCCAGAGTTGAATTCACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAACACCGAATT
GCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCTGATAAAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACA
GGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAAGTAACAG
ACTCTCATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTACCACAGTGATGATGATGATGATGATGAT
GATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAAT
AAATACTGGAAAGAATACCACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACCATCAGGACGCCTGCAGACA
TTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGAT
AGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACACCTGAGGT
TTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATTAATTGTACTCTATGGGAAAATTTCTTTGGAAAGATATTTTGTAAAA
CTTTTTTTTCCAAGTAAAAACTTTATGAAACTTGGTCTCAAAAATGTTGTGAACTTTATGATTCAAAATTGAGTACAGATATGTCCTTGATTCATATGTATGCTACATGTATCACACAACAGATCTGG
AATTCTTTCAGTTCCTCAGATACTTCTCCCTTAGTTTTTGCAGTTTCACTGGGATTATGTTTTGGGAAACAAGGAAAGGTCTAGATGCTTAAACATTTTAAATAAAAATTCCTTACAGTTTCATCTTC
CCAACATTTTCATTCTTTAAGGCTACTTTCCTACTAACTGAAATAACACATTTACTTTTACCACAATTCCTCAAAATAAATTTATTCTAACATTGAAAATAACATTACAAGTTAATCATTAGCTTGAT
GCATGCTAAAATGTAGCTTTTAAAAAGCATTCTGCATTAGTACTAAAATAAGCCATCAATGCCAGTCCACCCTCTCTATTCATGGCTAAATATTTAAAGGTTATTTATAGCTTCTTTAATGAATTCTT
CTTAAACAAAGTGAAATTATGTCCTAGAAAAGTAGAAGCTATTCGTAACTAGAGCAGTGCAACTTTAAAGTTTTATGAATATGTATTTTAATGACAAGGGGGCGAGCTTGCATCCCCACTAGTTAATG
GATAATTCAAACCGAGGACTGATTTTGAAAGATCACCTAAAAATGTAGATTTGTTCTTTAGTAAATTTAGATCAACTATGCATATATTTTGTAGGTAAATCTTTCAGTCCATGCCCCAACCCTCACCA
AAACCAAAGCAGAAATTACACACACAAAGATGCTCCCGTTAGGAATTGCTATTCACATGAGGCTTTCTGTGCTAGATTTTTTTCTCAGAAACAAACTTTACTGTAGGACTATTGTGGTGTTCTTAACA
GATTTGTAATTTCAAGATGCGTGTCATTAAATAATTTTTCATGTTCACAGA

hide sequence

RefSeq Acc Id:

NM_003796 ⟹ NP_003787

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,942,239 - 30,016,612 (+)	NCBI
GRCh37	19	30,414,551 - 30,507,519 (+)	NCBI
Build 36	19	35,125,265 - 35,198,456 (+)	NCBI Archive
Celera	19	27,127,113 - 27,200,278 (+)	RGD
HuRef	19	26,921,938 - 27,014,764 (+)	NCBI
CHM1_1	19	30,433,508 - 30,507,875 (+)	NCBI
T2T-CHM13v2.0	19	32,462,684 - 32,537,026 (+)	NCBI

Sequence:

show sequence

GTGTGGGGAGGCGCGGCCGCCACGCGACGCCTGGCTGGGCCCGCACCGGAGAGGCGTCTCGGTA
CCTGGCAGGCGGCCTGCTACTCGGAGCCCGCTGCGGGGCGGCGGCGGCGGGGACATGCACGTGTGAGATGCGGCAGCGGGCGGCGCGGACGCGAACAGCAGCGGCGGCGGCGGGCGCGGCCTCCTGGG
CGCGGGGCGCGCGGTGCCTGAGGGCGGGCGCGCGGGCGCTGGGCAACTGCCGGCCGCGCCGCCTGCGCAGGCGCTGGTTCAGGACTCACACGCCGCGCTGAGGCCCGCGGGCCCGTCATGGAGGCGCC
CACCGTGGAGACGCCCCCCGACCCCTCGCCCCCTTCGGCCCCGGCCCCTGCCCTGGTTCCGTTGCGCGCCCCGGATGTGGCGCGGCTGCGCGAGGAGCAGGAAAAGGTGGTCACTAACTGCCAAGAGA
GAATCCAGCATTGGAAGAAGGTAGATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCATGCCAGGAAAA
CTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAA
AAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTCACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAAC
ACCGAATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCTGATAAAGAACTGTGGGCTCGACTTGAAGAACTA
GAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCA
AGTAACAGACTCTCATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTACCACAGTGATGATGATGATG
ATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGG
GTCCGAATAAATACTGGAAAGAATACCACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACCATCAGGACGCC
TGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAAT
TTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACA
CCTGAGGCTTTTTCTGGAACTGTTATAGAAAAAGAATTTGTATCACCTTCCTTAACACCACCCCCAGCCATTGCTCATCCCGCACTACCCACTATTCCAGAACGAAAGGAAGTTCTGTTGGAAGCATC
TGAAGAAACTGGAAAGAGGGTTTCAAAGTTTAAAGCTGCCAGATTGCAACAGAAAGACTAGGCCCTGTCTAGGAAATGGGAATTTACATCCTAAAACCTAGTTGTTCATTTGTTTAGAGTATCTATAG
CAAAATAGGTTACATGTAGTTTGAAATAAGGTATCCTGAGTTACTTTGGCAACAAGTTCTTTTACCCTTACCCGTGGTATTTGAAAAAAATCAAGGTAACTGTCTGAATACTTTAATATCAGCTTGTT
TTGTGAATTCTCTGAATACTGTCAACACTCTTATCTAAGTTTGCCTTTATGATGCAGTGGCAGCATTTTGAATTACTTTTCAAAGAATACTGTTCATATGCATTGTTTTTGTGTTTCAAACTAAATAC
AGGCAGTTTTGTGCCAGCTGTGATATTGTGCATACCATATGGACCATTTTAAAGAAAATTTTAAAATTTCAAATAGATTCAACAATTACATTACTTGCTTTCACATTTTAAAGGCACTTTAAAAAAAT
CTACTTCTCTTGTAGGTTTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATTAATTGTACTCTATGGGAAAATTTCTTTGG
AAAGATATTTTGTAAAACTTTTTTTTCCAAGTAAAAACTTTATGAAACTTGGTCTCAAAAATGTTGTGAACTTTATGATTCAAAATTGAGTACAGATATGTCCTTGATTCATATGTATGCTACATGTA
TCACACAACAGATCTGGAATTCTTTCAGTTCCTCAGATACTTCTCCCTTAGTTTTTGCAGTTTCACTGGGATTATGTTTTGGGAAACAAGGAAAGGTCTAGATGCTTAAACATTTTAAATAAAAATTC
CTTACAGTTTCATCTTCCCAACATTTTCATTCTTTAAGGCTACTTTCCTACTAACTGAAATAACACATTTACTTTTACCACAATTCCTCAAAATAAATTTATTCTAACATTGAAAATAACATTACAAG
TTAATCATTAGCTTGATGCATGCTAAAATGTAGCTTTTAAAAAGCATTCTGCATTAGTACTAAAATAAGCCATCAATGCCAGTCCACCCTCTCTATTCATGGCTAAATATTTAAAGGTTATTTATAGC
TTCTTTAATGAATTCTTCTTAAACAAAGTGAAATTATGTCCTAGAAAAGTAGAAGCTATTCGTAACTAGAGCAGTGCAACTTTAAAGTTTTATGAATATGTATTTTAATGACAAGGGGGCGAGCTTGC
ATCCCCACTAGTTAATGGATAATTCAAACCGAGGACTGATTTTGAAAGATCACCTAAAAATGTAGATTTGTTCTTTAGTAAATTTAGATCAACTATGCATATATTTTGTAGGTAAATCTTTCAGTCCA
TGCCCCAACCCTCACCAAAACCAAAGCAGAAATTACACACACAAAGATGCTCCCGTTAGGAATTGCTATTCACATGAGGCTTTCTGTGCTAGATTTTTTTCTCAGAAACAAACTTTACTGTAGGACTA
TTGTGGTGTTCTTAACAGATTTGTAATTTCAAGATGCGTGTCATTAAATAATTTTTCATGTTCACAGA

hide sequence

RefSeq Acc Id:

NR_045557

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,942,239 - 30,016,612 (+)	NCBI
GRCh37	19	30,414,551 - 30,507,519 (+)	NCBI
HuRef	19	26,921,938 - 27,014,764 (+)	NCBI
CHM1_1	19	30,433,508 - 30,507,875 (+)	NCBI
T2T-CHM13v2.0	19	32,462,684 - 32,537,026 (+)	NCBI

Sequence:

show sequence

GTGTGGGGAGGCGCGGCCGCCACGCGACGCCTGGCTGGGCCCGCACCGGAGAGGCGTCTCGGTACCTGGCAGGCGGCCTGCTACTCGGAGCCCGCTGCGGGGCGGCGGCGGCGGGGACATGCACGTGT
GAGATGCGGCAGCGGGCGGCGCGGACGCGAACAGCAGCGGCGGCGGCGGGCGCGGCCTCCTGGGCGCGGGGCGCGCGGTGCCTGAGGGCGGGCGCGCGGGCGCTGGGCAACTGCCGGCCGCGCCGCCT
GCGCAGGCGCTGGTTCAGGACTCACACGCCGCGCTGAGGCCCGCGGGCCCGTCATGGAGGCGCCCACCGTGGAGACGCCCCCCGACCCCTCGCCCCCTTCGGCCCCGGCCCCTGCCCTGGTTCCGTTG
CGCGCCCCGGATGTGGCGCGGCTGCGCGAGGAGCAGGAAAAGGAAGAAGGTAGATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCAT
TTGGCCCTTTTGCCTTCATGCCAGGAAAACTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTAGTTGAGCACCGGAAAGAA
CATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTCACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAAT
TAAATGTGACTTCGAATTTAAAGCAAAACACCGAATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCTGATA
AAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGAT
CGTAACACAAATGTGAATGCGATGCATCAAGTAACAGACTCTCATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTC
CAGTTCTTACCACAGTGATGATGATGATGATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGGGTTGGAGATAATTCTATACCAACAATAT
ATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAATAAATACTGGAAAGAATACCACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCT
GCCCAGGAGCTGCCGACCATCAGGACGCCTGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAGAATAGTGTGTGTAG
CGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATC
AAAAGAAACTTTTGCCCTTATCAGTAACACCTGAGGCTTTTTCTGGAACTGTTATAGAAAAAGAATTTGTATCACCTTCCTTAACACCACCCCCAGCCATTGCTCATCCCGCACTACCCACTATTCCA
GAACGAAAGGAAGTTCTGTTGGAAGCATCTGAAGAAACTGGAAAGAGGGTTTCAAAGTTTAAAGCTGCCAGATTGCAACAGAAAGACTAGGCCCTGTCTAGGAAATGGGAATTTACATCCTAAAACCT
AGTTGTTCATTTGTTTAGAGTATCTATAGCAAAATAGGTTACATGTAGTTTGAAATAAGGTATCCTGAGTTACTTTGGCAACAAGTTCTTTTACCCTTACCCGTGGTATTTGAAAAAAATCAAGGTAA
CTGTCTGAATACTTTAATATCAGCTTGTTTTGTGAATTCTCTGAATACTGTCAACACTCTTATCTAAGTTTGCCTTTATGATGCAGTGGCAGCATTTTGAATTACTTTTCAAAGAATACTGTTCATAT
GCATTGTTTTTGTGTTTCAAACTAAATACAGGCAGTTTTGTGCCAGCTGTGATATTGTGCATACCATATGGACCATTTTAAAGAAAATTTTAAAATTTCAAATAGATTCAACAATTACATTACTTGCT
TTCACATTTTAAAGGCACTTTAAAAAAATCTACTTCTCTTGTAGGTTTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATT
AATTGTACTCTATGGGAAAATTTCTTTGGAAAGATATTTTGTAAAACTTTTTTTTCCAAGTAAAAACTTTATGAAACTTGGTCTCAAAAATGTTGTGAACTTTATGATTCAAAATTGAGTACAGATAT
GTCCTTGATTCATATGTATGCTACATGTATCACACAACAGATCTGGAATTCTTTCAGTTCCTCAGATACTTCTCCCTTAGTTTTTGCAGTTTCACTGGGATTATGTTTTGGGAAACAAGGAAAGGTCT
AGATGCTTAAACATTTTAAATAAAAATTCCTTACAGTTTCATCTTCCCAACATTTTCATTCTTTAAGGCTACTTTCCTACTAACTGAAATAACACATTTACTTTTACCACAATTCCTCAAAATAAATT
TATTCTAACATTGAAAATAACATTACAAGTTAATCATTAGCTTGATGCATGCTAAAATGTAGCTTTTAAAAAGCATTCTGCATTAGTACTAAAATAAGCCATCAATGCCAGTCCACCCTCTCTATTCA
TGGCTAAATATTTAAAGGTTATTTATAGCTTCTTTAATGAATTCTTCTTAAACAAAGTGAAATTATGTCCTAGAAAAGTAGAAGCTATTCGTAACTAGAGCAGTGCAACTTTAAAGTTTTATGAATAT
GTATTTTAATGACAAGGGGGCGAGCTTGCATCCCCACTAGTTAATGGATAATTCAAACCGAGGACTGATTTTGAAAGATCACCTAAAAATGTAGATTTGTTCTTTAGTAAATTTAGATCAACTATGCA
TATATTTTGTAGGTAAATCTTTCAGTCCATGCCCCAACCCTCACCAAAACCAAAGCAGAAATTACACACACAAAGATGCTCCCGTTAGGAATTGCTATTCACATGAGGCTTTCTGTGCTAGATTTTTT
TCTCAGAAACAAACTTTACTGTAGGACTATTGTGGTGTTCTTAACAGATTTGTAATTTCAAGATGCGTGTCATTAAATAATTTTTCATGTTCACAGA

hide sequence

RefSeq Acc Id:

XM_005259362 ⟹ XP_005259419

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,923,657 - 30,016,612 (+)	NCBI

Sequence:

show sequence

TCTTCTCACTCTTTTCCAGGCTCCTTGGAGGTCACTGCCCTGATGACAACATGGTCTTCCCTTCAAGGAAGCCACGTTTCTAAGAGGGCTCTGGCATATGCATTGGTGGTCACTAACTGCCAAGAGAG
AATCCAGCATTGGAAGAAGGTAGATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCATGCCAGGAAAAC
TTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAA
AAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTCACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAACA
CCGAATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCTGATAAAGAACTGTGGGCTCGACTTGAAGAACTAG
AGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAA
GTAACAGACTCTCATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTACCACAGTGATGATGATGATGA
TGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGG
TCCGAATAAATACTGGAAAGAATACCACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACCATCAGGACGCCT
GCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATT
TGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACAC
CTGAGGCTTTTTCTGGAACTGTTATAGAAAAAGAATTTGTATCACCTTCCTTAACACCACCCCCAGCCATTGCTCATCCCGCACTACCCACTATTCCAGAACGAAAGGAAGTTCTGTTGGAAGCATCT
GAAGAAACTGGAAAGAGGGTTTCAAAGTTTAAAGCTGCCAGATTGCAACAGAAAGACTAGGCCCTGTCTAGGAAATGGGAATTTACATCCTAAAACCTAGTTGTTCATTTGTTTAGAGTATCTATAGC
AAAATAGGTTACATGTAGTTTGAAATAAGGTATCCTGAGTTACTTTGGCAACAAGTTCTTTTACCCTTACCCGTGGTATTTGAAAAAAATCAAGGTAACTGTCTGAATACTTTAATATCAGCTTGTTT
TGTGAATTCTCTGAATACTGTCAACACTCTTATCTAAGTTTGCCTTTATGATGCAGTGGCAGCATTTTGAATTACTTTTCAAAGAATACTGTTCATATGCATTGTTTTTGTGTTTCAAACTAAATACA
GGCAGTTTTGTGCCAGCTGTGATATTGTGCATACCATATGGACCATTTTAAAGAAAATTTTAAAATTTCAAATAGATTCAACAATTACATTACTTGCTTTCACATTTTAAAGGCACTTTAAAAAAATC
TACTTCTCTTGTAGGTTTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATTAATTGTACTCTATGGGAAAATTTCTTTGGA
AAGATATTTTGTAAAACTTTTTTTTCCAAGTAAAAACTTTATGAAACTTGGTCTCAAAAATGTTGTGAACTTTATGATTCAAAATTGAGTACAGATATGTCCTTGATTCATATGTATGCTACATGTAT
CACACAACAGATCTGGAATTCTTTCAGTTCCTCAGATACTTCTCCCTTAGTTTTTGCAGTTTCACTGGGATTATGTTTTGGGAAACAAGGAAAGGTCTAGATGCTTAAACATTTTAAATAAAAATTCC
TTACAGTTTCATCTTCCCAACATTTTCATTCTTTAAGGCTACTTTCCTACTAACTGAAATAACACATTTACTTTTACCACAATTCCTCAAAATAAATTTATTCTAACATTGAAAATAACATTACAAGT
TAATCATTAGCTTGATGCATGCTAAAATGTAGCTTTTAAAAAGCATTCTGCATTAGTACTAAAATAAGCCATCAATGCCAGTCCACCCTCTCTATTCATGGCTAAATATTTAAAGGTTATTTATAGCT
TCTTTAATGAATTCTTCTTAAACAAAGTGAAATTATGTCCTAGAAAAGTAGAAGCTATTCGTAACTAGAGCAGTGCAACTTTAAAGTTTTATGAATATGTATTTTAATGACAAGGGGGCGAGCTTGCA
TCCCCACTAGTTAATGGATAATTCAAACCGAGGACTGATTTTGAAAGATCACCTAAAAATGTAGATTTGTTCTTTAGTAAATTTAGATCAACTATGCATATATTTTGTAGGTAAATCTTTCAGTCCAT
GCCCCAACCCTCACCAAAACCAAAGCAGAAATTACACACACAAAGATGCTCCCGTTAGGAATTGCTATTCACATGAGGCTTTCTGTGCTAGATTTTTTTCTCAGAAACAAACTTTACTGTAGGACTAT
TGTGGTGTTCTTAACAGATTTGTAATTTCAAGATGCGTGTCATTAAATAATTTTTCATGTTCA

hide sequence

RefSeq Acc Id:

XM_005259363 ⟹ XP_005259420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,942,239 - 30,016,612 (+)	NCBI

Sequence:

show sequence

GCTGGTTCAGGACTCACACGCCGCGCTGAGGCCCGCGGGCCCGTCATGGAGGCGCCCACCGTGG
AGACGCCCCCCGACCCCTCGCCCCCTTCGGCCCCGGCCCCTGCCCTGGTTCCGTTGCGCGCCCCGGATGTGGCGCGGCTGCGCGAGGAGCAGGAAAAGGTGGTCACTAACTGCCAAGAGAGAATCCAG
CATTGGAAGAAGGTAGATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCATGCCAGGAAAACTTGTCCA
TACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGA
TGAAAAATTTTGAATCCAGAGTTGAATTCACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAACACCGAATT
GCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCTGATAAAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACA
GGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAAGTAACAG
ACTCTCATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTACCACAGTGATGATGATGATGATGATGAT
GATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAAT
AAATACTGGAAAGAATACCACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACCATCAGGACGCCTGCAGACA
TTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGAT
AGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACACCTGAGGT
TTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATTAATTGTACTCTATGGGAAAATTTCTTTGGAAAGATATTTTGTAAAA
CTTTTTTTTCCAAGTAAAAACTTTATGAAACTTGGTCTCAAAAATGTTGTGAACTTTATGATTCAAAATTGAGTACAGATATGTCCTTGATTCATATGTATGCTACATGTATCACACAACAGATCTGG
AATTCTTTCAGTTCCTCAGATACTTCTCCCTTAGTTTTTGCAGTTTCACTGGGATTATGTTTTGGGAAACAAGGAAAGGTCTAGATGCTTAAACATTTTAAATAAAAATTCCTTACAGTTTCATCTTC
CCAACATTTTCATTCTTTAAGGCTACTTTCCTACTAACTGAAATAACACATTTACTTTTACCACAATTCCTCAAAATAAATTTATTCTAACATTGAAAATAACATTACAAGTTAATCATTAGCTTGAT
GCATGCTAAAATGTAGCTTTTAAAAAGCATTCTGCATTAGTACTAAAATAAGCCATCAATGCCAGTCCACCCTCTCTATTCATGGCTAAATATTTAAAGGTTATTTATAGCTTCTTTAATGAATTCTT
CTTAAACAAAGTGAAATTATGTCCTAGAAAAGTAGAAGCTATTCGTAACTAGAGCAGTGCAACTTTAAAGTTTTATGAATATGTATTTTAATGACAAGGGGGCGAGCTTGCATCCCCACTAGTTAATG
GATAATTCAAACCGAGGACTGATTTTGAAAGATCACCTAAAAATGTAGATTTGTTCTTTAGTAAATTTAGATCAACTATGCATATATTTTGTAGGTAAATCTTTCAGTCCATGCCCCAACCCTCACCA
AAACCAAAGCAGAAATTACACACACAAAGATGCTCCCGTTAGGAATTGCTATTCACATGAGGCTTTCTGTGCTAGATTTTTTTCTCAGAAACAAACTTTACTGTAGGACTATTGTGGTGTTCTTAACA
GATTTGTAATTTCAAGATGCGTGTCATTAAATAATTTTTCATGTTCACA

hide sequence

RefSeq Acc Id:

XM_011527435 ⟹ XP_011525737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,923,657 - 30,016,612 (+)	NCBI

Sequence:

show sequence

AGGCTCCTTGGAGGTCACTGCCCTGATGACAACATGGTCTTCCCTTCAAGGAAGCCACGTTTCT
AAGAGGGCTCTGGCATATGCATTGGAAGAAGGTAGATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCA
TGCCAGGAAAACTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATA
GATGACTTAAAAAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTCACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATT
TAAAGCAAAACACCGAATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCTGATAAAGAACTGTGGGCTCGAC
TTGAAGAACTAGAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAAT
GCGATGCATCAAGTAACAGACTCTCATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTACCACAGTGA
TGATGATGATGATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTG
AGCCTAAGAGGGTCCGAATAAATACTGGAAAGAATACCACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACC
ATCAGGACGCCTGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAG
TGCTGCTGAATTTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCT
TATCAGTAACACCTGAGGCTTTTTCTGGAACTGTTATAGAAAAAGAATTTGTATCACCTTCCTTAACACCACCCCCAGCCATTGCTCATCCCGCACTACCCACTATTCCAGAACGAAAGGAAGTTCTG
TTGGAAGCATCTGAAGAAACTGGAAAGAGGGTTTCAAAGTTTAAAGCTGCCAGATTGCAACAGAAAGACTAGGCCCTGTCTAGGAAATGGGAATTTACATCCTAAAACCTAGTTGTTCATTTGTTTAG
AGTATCTATAGCAAAATAGGTTACATGTAGTTTGAAATAAGGTATCCTGAGTTACTTTGGCAACAAGTTCTTTTACCCTTACCCGTGGTATTTGAAAAAAATCAAGGTAACTGTCTGAATACTTTAAT
ATCAGCTTGTTTTGTGAATTCTCTGAATACTGTCAACACTCTTATCTAAGTTTGCCTTTATGATGCAGTGGCAGCATTTTGAATTACTTTTCAAAGAATACTGTTCATATGCATTGTTTTTGTGTTTC
AAACTAAATACAGGCAGTTTTGTGCCAGCTGTGATATTGTGCATACCATATGGACCATTTTAAAGAAAATTTTAAAATTTCAAATAGATTCAACAATTACATTACTTGCTTTCACATTTTAAAGGCAC
TTTAAAAAAATCTACTTCTCTTGTAGGTTTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATTAATTGTACTCTATGGGAA
AATTTCTTTGGAAAGATATTTTGTAAAACTTTTTTTTCCAAGTAAAAACTTTATGAAACTTGGTCTCAAAAATGTTGTGAACTTTATGATTCAAAATTGAGTACAGATATGTCCTTGATTCATATGTA
TGCTACATGTATCACACAACAGATCTGGAATTCTTTCAGTTCCTCAGATACTTCTCCCTTAGTTTTTGCAGTTTCACTGGGATTATGTTTTGGGAAACAAGGAAAGGTCTAGATGCTTAAACATTTTA
AATAAAAATTCCTTACAGTTTCATCTTCCCAACATTTTCATTCTTTAAGGCTACTTTCCTACTAACTGAAATAACACATTTACTTTTACCACAATTCCTCAAAATAAATTTATTCTAACATTGAAAAT
AACATTACAAGTTAATCATTAGCTTGATGCATGCTAAAATGTAGCTTTTAAAAAGCATTCTGCATTAGTACTAAAATAAGCCATCAATGCCAGTCCACCCTCTCTATTCATGGCTAAATATTTAAAGG
TTATTTATAGCTTCTTTAATGAATTCTTCTTAAACAAAGTGAAATTATGTCCTAGAAAAGTAGAAGCTATTCGTAACTAGAGCAGTGCAACTTTAAAGTTTTATGAATATGTATTTTAATGACAAGGG
GGCGAGCTTGCATCCCCACTAGTTAATGGATAATTCAAACCGAGGACTGATTTTGAAAGATCACCTAAAAATGTAGATTTGTTCTTTAGTAAATTTAGATCAACTATGCATATATTTTGTAGGTAAAT
CTTTCAGTCCATGCCCCAACCCTCACCAAAACCAAAGCAGAAATTACACACACAAAGATGCTCCCGTTAGGAATTGCTATTCACATGAGGCTTTCTGTGCTAGATTTTTTTCTCAGAAACAAACTTTA
CTGTAGGACTATTGTGGTGTTCTTAACAGATTTGTAATTTCAAGATGCGTGTCATTAAATAATTTTTCATGTTCA

hide sequence

RefSeq Acc Id:

XM_047439595 ⟹ XP_047295551

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,923,657 - 30,016,612 (+)	NCBI

RefSeq Acc Id:

XM_047439596 ⟹ XP_047295552

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,942,239 - 30,016,612 (+)	NCBI

RefSeq Acc Id:

XM_054322482 ⟹ XP_054178457

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	32,444,098 - 32,537,026 (+)	NCBI

RefSeq Acc Id:

XM_054322483 ⟹ XP_054178458

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	32,462,684 - 32,537,026 (+)	NCBI

RefSeq Acc Id:

XM_054322484 ⟹ XP_054178459

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	32,444,098 - 32,537,026 (+)	NCBI

RefSeq Acc Id:

XM_054322485 ⟹ XP_054178460

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	32,444,098 - 32,537,026 (+)	NCBI

RefSeq Acc Id:

XM_054322486 ⟹ XP_054178461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	32,462,684 - 32,537,026 (+)	NCBI


Protein RefSeqs	NP_001239570	(Get FASTA)	NCBI Sequence Viewer
	NP_003787	(Get FASTA)	NCBI Sequence Viewer
	XP_005259419	(Get FASTA)	NCBI Sequence Viewer
	XP_005259420	(Get FASTA)	NCBI Sequence Viewer
	XP_011525737	(Get FASTA)	NCBI Sequence Viewer
	XP_047295551	(Get FASTA)	NCBI Sequence Viewer
	XP_047295552	(Get FASTA)	NCBI Sequence Viewer
	XP_054178457	(Get FASTA)	NCBI Sequence Viewer
	XP_054178458	(Get FASTA)	NCBI Sequence Viewer
	XP_054178459	(Get FASTA)	NCBI Sequence Viewer
	XP_054178460	(Get FASTA)	NCBI Sequence Viewer
	XP_054178461	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD08679	(Get FASTA)	NCBI Sequence Viewer
	AAH14933	(Get FASTA)	NCBI Sequence Viewer
	AAH26184	(Get FASTA)	NCBI Sequence Viewer
	AAH67259	(Get FASTA)	NCBI Sequence Viewer
	BAF84859	(Get FASTA)	NCBI Sequence Viewer
	BAG50914	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000353817
	ENSP00000353817.4
	ENSP00000376097
	ENSP00000376097.2
GenBank Protein	O94763	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003787 ⟸ NM_003796
- Peptide Label:	isoform a
- UniProtKB:	Q8TC23 (UniProtKB/Swiss-Prot), H7BY42 (UniProtKB/Swiss-Prot), A8K805 (UniProtKB/Swiss-Prot), Q9UNU3 (UniProtKB/Swiss-Prot), O94763 (UniProtKB/Swiss-Prot), Q6NX55 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEAPTVETPPDPSPPSAPAPALVPLRAPDVARLREEQEKVVTNCQERIQHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTI DDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVN AMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPT IRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKKLLPLSVTPEAFSGTVIEKEFVSPSLTPPPAIAHPALPTIPERKEVL LEASEETGKRVSKFKAARLQQKD hide sequence

RefSeq Acc Id:	NP_001239570 ⟸ NM_001252641
- Peptide Label:	isoform c
- UniProtKB:	Q6NX55 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTTWSSLQGSHVSKRALAYALVVTNCQERIQHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGP FAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKEL WARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFS HTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKK LLPLSVTPEVLRLVGYSRNLAPLNVIL hide sequence

RefSeq Acc Id:	XP_005259419 ⟸ XM_005259362
- Peptide Label:	isoform X1
- UniProtKB:	Q6NX55 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTTWSSLQGSHVSKRALAYALVVTNCQERIQHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGP FAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKEL WARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFS HTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKK LLPLSVTPEAFSGTVIEKEFVSPSLTPPPAIAHPALPTIPERKEVLLEASEETGKRVSKFKAARLQQKD hide sequence

RefSeq Acc Id:	XP_005259420 ⟸ XM_005259363
- Peptide Label:	isoform X2
- UniProtKB:	Q6NX55 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEAPTVETPPDPSPPSAPAPALVPLRAPDVARLREEQEKVVTNCQERIQHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTI DDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVN AMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPT IRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKKLLPLSVTPEVLRLVGYSRNLAPLNVIL hide sequence

RefSeq Acc Id:	XP_011525737 ⟸ XM_011527435
- Peptide Label:	isoform X3
- UniProtKB:	Q6NX55 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHR IAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDD DDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFD DRRGVLRSISCEEATCSDTSESILEEEPQENQKKLLPLSVTPEAFSGTVIEKEFVSPSLTPPPAIAHPALPTIPERKEVLLEASEETGKRVSKFKAARLQQKD hide sequence

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O94763-F1-model_v2	AlphaFold	O94763	1-535	view protein structure

RGD ID:

7239371

Promoter ID:

EPDNEW_H25430

Type:

initiation region

Name:

URI1_2

Description:

URI1, prefoldin like chaperone

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25431

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,923,657 - 29,923,717	EPDNEW

RGD ID:

7239369

Promoter ID:

EPDNEW_H25431

Type:

initiation region

Name:

URI1_1

Description:

URI1, prefoldin like chaperone

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25430

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	29,942,260 - 29,942,320	EPDNEW

RGD ID:

6795437

Promoter ID:

HG_KWN:29505

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:

ENST00000312051, ENST00000392271

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	35,124,871 - 35,125,497 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	URI1	COSMIC
Ensembl Genes	ENSG00000105176	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000360605	ENTREZGENE
	ENST00000360605.8	UniProtKB/Swiss-Prot
	ENST00000392271	ENTREZGENE
	ENST00000392271.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.370	UniProtKB/Swiss-Prot
GTEx	ENSG00000105176	GTEx
HGNC ID	HGNC:13236	ENTREZGENE
Human Proteome Map	URI1	Human Proteome Map
InterPro	Prefoldin	UniProtKB/Swiss-Prot
	Prefoldin_subunit_alpha	UniProtKB/Swiss-Prot
	RNA_pol_II_subunit5-mediator	UniProtKB/Swiss-Prot
KEGG Report	hsa:8725	UniProtKB/Swiss-Prot
NCBI Gene	8725	ENTREZGENE
OMIM	603494	OMIM
PANTHER	RNA POLYMERASE II SUBUNIT 5-MEDIATING PROTEIN NNX3	UniProtKB/Swiss-Prot
	UNCONVENTIONAL PREFOLDIN RPB5 INTERACTOR 1	UniProtKB/Swiss-Prot
Pfam	Prefoldin	UniProtKB/Swiss-Prot
PharmGKB	PA134962614	PharmGKB
Superfamily-SCOP	Prefoldin	UniProtKB/Swiss-Prot
UniProt	A8K805	ENTREZGENE
	H7BY42	ENTREZGENE
	I3L0K5_HUMAN	UniProtKB/TrEMBL
	I3L104_HUMAN	UniProtKB/TrEMBL
	I3L130_HUMAN	UniProtKB/TrEMBL
	I3L280_HUMAN	UniProtKB/TrEMBL
	I3L2V7_HUMAN	UniProtKB/TrEMBL
	I3L467_HUMAN	UniProtKB/TrEMBL
	I3NI51_HUMAN	UniProtKB/TrEMBL
	K7EQZ9_HUMAN	UniProtKB/TrEMBL
	O94763	ENTREZGENE
	Q6NX55	ENTREZGENE, UniProtKB/TrEMBL
	Q8TC23	ENTREZGENE
	Q9UNU3	ENTREZGENE
	RMP_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K805	UniProtKB/Swiss-Prot
	H7BY42	UniProtKB/Swiss-Prot
	Q8TC23	UniProtKB/Swiss-Prot
	Q9UNU3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	URI1	URI1 prefoldin like chaperone	URI1	URI1, prefoldin like chaperone	Symbol and/or name change	5135510	APPROVED
2016-06-14	URI1	URI1, prefoldin like chaperone	URI1	URI1 prefoldin-like chaperone	Symbol and/or name change	5135510	APPROVED
2015-11-24	URI1	URI1 prefoldin-like chaperone	URI1	URI1, prefoldin-like chaperone	Symbol and/or name change	5135510	APPROVED
2011-11-29	URI1	URI1, prefoldin-like chaperone	C19orf2	chromosome 19 open reading frame 2	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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