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Gene: ISY1 (ISY1 splicing factor homolog) Homo sapiens

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Symbol:

ISY1

Name:

ISY1 splicing factor homolog

RGD ID:

1606526

HGNC Page

HGNC:29201

Description:

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type catalytic step 1 spliceosome and catalytic step 2 spliceosome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

fSAP33; functional spliceosome-associated protein 33; KIAA1160; pre-mRNA-splicing factor ISY1 homolog

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):	Isy1 (ISY1 splicing factor homolog)	HGNC	EggNOG, Ensembl, HGNC, Inparanoid, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Isy1 (ISY1 splicing factor homolog)	HGNC	Ensembl, Inparanoid, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Isy1 (ISY1 splicing factor homolog)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ISY1 (ISY1 splicing factor homolog)	NCBI	Ortholog
Canis lupus familiaris (dog):	ISY1 (ISY1 splicing factor homolog)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OrthoDB, Panther, Treefam
Sus scrofa (pig):	LOC102162880 (pre-mRNA-splicing factor ISY1 homolog)	HGNC	Ensembl, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	ISY1 (ISY1 splicing factor homolog)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Isy1 (ISY1 splicing factor homolog)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Isy1 (ISY1 splicing factor homolog)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Isy1 (ISY1 splicing factor homolog)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	isy1 (ISY1 splicing factor homolog)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	ISY1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	CG9667	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	isy-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	isy1.L	Alliance	DIOPT (Xenbase)

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	3	129,127,415 - 129,161,063 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	129,127,415 - 129,161,063 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	128,846,258 - 128,879,906 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	130,330,925 - 130,362,719 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	127,279,847 - 127,296,403 (-)	NCBI		Celera
Cytogenetic Map	3	q21.3	NCBI
HuRef	3	126,232,620 - 126,266,455 (-)	NCBI		HuRef
CHM1_1	3	128,809,709 - 128,843,507 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	131,872,317 - 131,905,969 (-)	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)
ISY1	Human	alkaptonuria		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Alkaptonuria	ClinVar	PMID:12501223 more ...
ISY1	Human	immunodeficiency 21		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: GATA2 DEFICIENCY	ClinVar	PMID:28492532
ISY1	Human	Primary Lymphedema with Myelodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Emberger syndrome	ClinVar	PMID:22147895 and PMID:25741868
ISY1	Human	Primary Lymphedema with Myelodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Emberger syndrome	ClinVar	PMID:28492532
ISY1	Human	Primary Lymphedema with Myelodysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Emberger syndrome	ClinVar	PMID:19449416 more ...

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ISY1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Isy1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of ISY1 mRNA	CTD	PMID:22206623
ISY1	Human	17alpha-ethynylestradiol	affects expression	ISO	Isy1 (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of ISY1 mRNA	CTD	PMID:17555576
ISY1	Human	17beta-estradiol	multiple interactions	ISO	Isy1 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Estradiol] results in decreased expression of ISY1 mRNA	CTD	PMID:26496021
ISY1	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Isy1 (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
ISY1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Isy1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of ISY1 mRNA	CTD	PMID:22298810
ISY1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of ISY1 mRNA	CTD	PMID:33387578 and PMID:34747641
ISY1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Isy1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of ISY1 mRNA	CTD	PMID:21570461
ISY1	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of ISY1 mRNA	CTD	PMID:21179406
ISY1	Human	3,3',4,4'-tetrachlorobiphenyl	multiple interactions	ISO	Isy1 (Mus musculus)	6480464	3 more ...	CTD	PMID:19467301
ISY1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Isy1 (Mus musculus)	6480464	bisphenol S results in increased expression of ISY1 mRNA	CTD	PMID:39298647
ISY1	Human	6-propyl-2-thiouracil	increases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of ISY1 mRNA	CTD	PMID:22504374 and PMID:24780913
ISY1	Human	benzo[a]pyrene	increases expression	ISO	Isy1 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of ISY1 mRNA	CTD	PMID:22228805
ISY1	Human	bis(2-ethylhexyl) phthalate	multiple interactions	EXP		6480464	[Diethylhexyl Phthalate results in increased abundance of mono-(2-ethylhexyl)phthalate] which results in decreased methylation of ISY1 promoter	CTD	PMID:33872906
ISY1	Human	bisphenol A	multiple interactions	ISO	Isy1 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Estradiol] results in decreased expression of ISY1 mRNA	CTD	PMID:26496021
ISY1	Human	cadmium dichloride	decreases methylation	ISO	Isy1 (Rattus norvegicus)	6480464	Cadmium Chloride results in decreased methylation of ISY1 promoter	CTD	PMID:22457795
ISY1	Human	choline	multiple interactions	ISO	Isy1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ISY1 gene	CTD	PMID:20938992
ISY1	Human	cobalt dichloride	decreases expression	ISO	Isy1 (Rattus norvegicus)	6480464	cobaltous chloride results in decreased expression of ISY1 mRNA	CTD	PMID:24386269
ISY1	Human	copper atom	multiple interactions	EXP		6480464	[Disulfiram binds to Copper] which results in decreased expression of ISY1 mRNA	CTD	PMID:24690739
ISY1	Human	copper(0)	multiple interactions	EXP		6480464	[Disulfiram binds to Copper] which results in decreased expression of ISY1 mRNA	CTD	PMID:24690739
ISY1	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of ISY1 mRNA	CTD	PMID:19549813
ISY1	Human	CU-O LINKAGE	increases expression	EXP		6480464	cupric oxide results in increased expression of ISY1 mRNA	CTD	PMID:22077320
ISY1	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of ISY1 mRNA	CTD	PMID:28302478
ISY1	Human	disulfiram	multiple interactions	EXP		6480464	[Disulfiram binds to Copper] which results in decreased expression of ISY1 mRNA	CTD	PMID:24690739
ISY1	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of ISY1 mRNA	CTD	PMID:29803840
ISY1	Human	erythromycin estolate	increases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Erythromycin Estolate results in increased expression of ISY1 mRNA	CTD	PMID:24412560
ISY1	Human	fenthion	decreases expression	ISO	Isy1 (Mus musculus)	6480464	Fenthion results in decreased expression of ISY1 mRNA	CTD	PMID:34813904
ISY1	Human	folic acid	multiple interactions	ISO	Isy1 (Mus musculus)	6480464	[1 more ...	CTD	PMID:20938992 and PMID:22206623
ISY1	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of ISY1 protein	CTD	PMID:37730182
ISY1	Human	glyphosate	increases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Glyphosate results in increased expression of ISY1 mRNA	CTD	PMID:26302742
ISY1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of ISY1 protein	CTD	PMID:32959892
ISY1	Human	L-methionine	multiple interactions	ISO	Isy1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ISY1 gene	CTD	PMID:20938992
ISY1	Human	methidathion	decreases expression	ISO	Isy1 (Mus musculus)	6480464	methidathion results in decreased expression of ISY1 mRNA	CTD	PMID:34813904
ISY1	Human	methimazole	increases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Methimazole results in increased expression of ISY1 mRNA	CTD	PMID:22504374
ISY1	Human	mono(2-ethylhexyl) phthalate	multiple interactions	EXP		6480464	[Diethylhexyl Phthalate results in increased abundance of mono-(2-ethylhexyl)phthalate] which results in decreased methylation of ISY1 promoter	CTD	PMID:33872906
ISY1	Human	oxaliplatin	multiple interactions	ISO	Isy1 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of ISY1 mRNA	CTD	PMID:25729387
ISY1	Human	paracetamol	decreases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of ISY1 mRNA	CTD	PMID:33387578
ISY1	Human	pirinixic acid	increases expression	ISO	Isy1 (Mus musculus)	6480464	pirinixic acid results in increased expression of ISY1 mRNA	CTD	PMID:23811191
ISY1	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in increased expression of ISY1 mRNA	CTD	PMID:23557933
ISY1	Human	sodium arsenate	increases expression	ISO	Isy1 (Mus musculus)	6480464	sodium arsenate results in increased expression of ISY1 mRNA	CTD	PMID:21795629
ISY1	Human	tamoxifen	affects expression	ISO	Isy1 (Mus musculus)	6480464	Tamoxifen affects the expression of ISY1 mRNA	CTD	PMID:17555576
ISY1	Human	tetrachloromethane	affects expression	ISO	Isy1 (Mus musculus)	6480464	Carbon Tetrachloride affects the expression of ISY1 mRNA	CTD	PMID:17484886
ISY1	Human	titanium dioxide	increases methylation	ISO	Isy1 (Mus musculus)	6480464	titanium dioxide results in increased methylation of ISY1 gene	CTD	PMID:35295148
ISY1	Human	toluene	decreases expression	ISO	Isy1 (Rattus norvegicus)	6480464	Toluene results in decreased expression of ISY1 mRNA	CTD	PMID:22967744
ISY1	Human	topotecan	multiple interactions	ISO	Isy1 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of ISY1 mRNA	CTD	PMID:25729387
ISY1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of ISY1 mRNA	CTD	PMID:37042841
ISY1	Human	valproic acid	decreases expression	ISO	Isy1 (Mus musculus)	6480464	Valproic Acid results in decreased expression of ISY1 mRNA	CTD	PMID:19136453
ISY1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of ISY1 mRNA	CTD	PMID:25979313
ISY1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of ISY1 gene	CTD	PMID:29154799

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)
ISY1	Human	generation of catalytic spliceosome for second transesterification step	involved_in	IEA	InterPro:IPR009360 and InterPro:IPR037200	150520179		InterPro	GO_REF:0000002
ISY1	Human	generation of catalytic spliceosome for second transesterification step	involved_in	IBA	PANTHER:PTN000314659 and SGD:S000003811	150520179		GO_Central	GO_REF:0000033
ISY1	Human	mRNA 3'-splice site recognition	involved_in	IBA	PANTHER:PTN000314659 and SGD:S000003811	150520179		GO_Central	GO_REF:0000033
ISY1	Human	mRNA processing	involved_in	IEA	UniProtKB-KW:KW-0507	150520179		UniProt	GO_REF:0000043
ISY1	Human	mRNA splicing, via spliceosome	involved_in	IDA		150520179	PMID:29301961	UniProt	PMID:29301961
ISY1	Human	mRNA splicing, via spliceosome	involved_in	IC	GO:0071013	150520179	PMID:11991638	UniProt	PMID:11991638
ISY1	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)
ISY1	Human	catalytic step 2 spliceosome	part_of	IBA	PANTHER:PTN000314659 more ...	150520179		GO_Central	GO_REF:0000033
ISY1	Human	catalytic step 2 spliceosome	part_of	IDA		150520179	PMID:11991638	UniProt	PMID:11991638
ISY1	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6782004 more ...
ISY1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
ISY1	Human	nucleus	located_in	IDA		150520179	PMID:29301961	UniProt	PMID:29301961
ISY1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
ISY1	Human	post-mRNA release spliceosomal complex	part_of	IBA	PANTHER:PTN000314659 more ...	150520179		GO_Central	GO_REF:0000033
ISY1	Human	post-spliceosomal complex	part_of	IBA	PANTHER:PTN000314659 and SGD:S000003811	150520179		GO_Central	GO_REF:0000033
ISY1	Human	Prp19 complex	part_of	IBA	FB:FBgn0037550 more ...	150520179		GO_Central	GO_REF:0000033
ISY1	Human	spliceosomal complex	part_of	IEA	UniProtKB-KW:KW-0747	150520179		UniProt	GO_REF:0000043
ISY1	Human	U2-type catalytic step 1 spliceosome	part_of	IDA		150520179	PMID:29301961	UniProt	PMID:29301961

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)
ISY1	Human	protein binding	enables	IPI	UniProtKB:P27797 more ...	150520179	PMID:32814053	IntAct	PMID:32814053
ISY1	Human	protein binding	enables	IPI	UniProtKB:O43559 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
ISY1	Human	protein binding	enables	IPI	UniProtKB:Q14562 and UniProtKB:Q9HCS7	150520179	PMID:22365833	IntAct	PMID:22365833
ISY1	Human	protein binding	enables	IPI	UniProtKB:O60306 more ...	150520179	PMID:33961781	IntAct	PMID:33961781
ISY1	Human	protein binding	enables	IPI	UniProtKB:O60306 and UniProtKB:P09661	150520179	PMID:25599396	IntAct	PMID:25599396
ISY1	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)
ISY1	Human	spliceosome pathway		TAS		9686094		RGD

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ISY1	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.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:10574461	PMID:11991638	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16103217	PMID:16159877	PMID:18029348	PMID:19490893	PMID:21873635	PMID:22365833	PMID:22658674
PMID:22939629	PMID:24457600	PMID:24981860	PMID:25599396	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26627737	PMID:27684187	PMID:28302793	PMID:28514442	PMID:28515276
PMID:28524877	PMID:28561026	PMID:28838205	PMID:29229926	PMID:29298432	PMID:29301961	PMID:29395067	PMID:29568061	PMID:29764989	PMID:29802200	PMID:30196744	PMID:30404004
PMID:30804502	PMID:30884312	PMID:30890647	PMID:31091453	PMID:31753913	PMID:31887540	PMID:32296183	PMID:32393512	PMID:32416067	PMID:32513696	PMID:32744500	PMID:32814053
PMID:33001583	PMID:33961781	PMID:34133714	PMID:34373451	PMID:35271311	PMID:35850772	PMID:35944360	PMID:36215168	PMID:36232890	PMID:36373674	PMID:36526897	PMID:36897256
PMID:37071682	PMID:37689310	PMID:38113892	PMID:39522233

ISY1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	129,127,415 - 129,161,063 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	129,127,415 - 129,161,063 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	128,846,258 - 128,879,906 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	130,330,925 - 130,362,719 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	127,279,847 - 127,296,403 (-)	NCBI		Celera
Cytogenetic Map	3	q21.3	NCBI
HuRef	3	126,232,620 - 126,266,455 (-)	NCBI		HuRef
CHM1_1	3	128,809,709 - 128,843,507 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	131,872,317 - 131,905,969 (-)	NCBI		T2T-CHM13v2.0

Isy1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	87,795,429 - 87,815,723 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	87,791,251 - 87,815,780 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	87,818,447 - 87,838,923 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	87,814,269 - 87,838,798 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	87,768,441 - 87,788,753 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	87,784,088 - 87,804,400 (-)	NCBI		MGSCv36	mm8
Celera	6	89,755,774 - 89,776,088 (-)	NCBI		Celera
Cytogenetic Map	6	D1	NCBI
cM Map	6	39.13	NCBI

Isy1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	121,833,870 - 121,854,561 (-)	NCBI		GRCr8
mRatBN7.2	4	120,276,535 - 120,297,227 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	120,276,292 - 120,297,188 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	125,755,473 - 125,776,233 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	121,530,265 - 121,551,018 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	120,154,502 - 120,175,256 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	119,721,659 - 119,742,349 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	119,721,660 - 119,742,349 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	184,972,994 - 184,993,684 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	122,006,785 - 122,027,475 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	122,251,266 - 122,271,956 (-)	NCBI
Celera	4	109,237,067 - 109,257,757 (-)	NCBI		Celera
Cytogenetic Map	4	q34	NCBI

Isy1
(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_004955429	13,511,914 - 13,527,516 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955429	13,513,191 - 13,527,516 (-)	NCBI	ChiLan1.0	ChiLan1.0

ISY1
(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	2	127,062,204 - 127,098,841 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	127,066,927 - 127,100,331 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	126,187,354 - 126,219,355 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	133,545,726 - 133,575,974 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	133,545,726 - 133,575,974 (-)	Ensembl	panpan1.1		panPan2

ISY1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	2,945,636 - 2,972,245 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	2,945,720 - 2,972,245 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	2,982,811 - 3,008,961 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	2,966,468 - 2,993,064 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	2,966,789 - 2,996,303 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	2,686,460 - 2,712,607 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	3,009,520 - 3,035,724 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	2,973,956 - 3,000,161 (+)	NCBI		UU_Cfam_GSD_1.0

LOC102162880
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	71,599,237 - 71,622,840 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	71,601,737 - 71,622,835 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	79,186,720 - 79,207,558 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ISY1
(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	22	51,905,564 - 51,940,705 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	51,907,290 - 51,938,847 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	114,430,973 - 114,474,500 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Isy1
(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 1.0	NW_004624943	968,193 - 984,683 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in ISY1
6 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	copy number gain	See cases [RCV000050795]	Chr3:128601065..129182579 [GRCh38] Chr3:128319908..128901422 [GRCh37] Chr3:129802598..130384112 [NCBI36] Chr3:3q21.3	uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	copy number gain	See cases [RCV000142010]	Chr3:126106779..140918089 [GRCh38] Chr3:125825622..140636931 [GRCh37] Chr3:127308312..142119621 [NCBI36] Chr3:3q21.3-23	uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	copy number gain	See cases [RCV000142340]	Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	copy number loss	not provided [RCV000682304]	Chr3:128660985..129811200 [GRCh37] Chr3:3q21.3-22.1	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
Single allele	deletion	Deafness-lymphedema-leukemia syndrome [RCV001541925]	Chr3:127966423..136853218 [GRCh37] Chr3:3q21.3-22.3	pathogenic
Single allele	deletion	Deafness-lymphedema-leukemia syndrome [RCV001541926]	Chr3:123000000..129700000 [GRCh37] Chr3:3q21.1-22.1	pathogenic
NC_000003.11:g.(?_120365818)_(133465047_?)del	deletion	Alkaptonuria [RCV002035459]	Chr3:120365818..133465047 [GRCh37] Chr3:3q13.33-22.1	pathogenic
NM_020701.4(ISY1):c.419-2186G>A	single nucleotide variant	not specified [RCV004297264]	Chr3:129137140 [GRCh38] Chr3:128855983 [GRCh37] Chr3:3q21.3	uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	copy number gain	not provided [RCV002472621]	Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31	pathogenic
NM_020701.4(ISY1):c.419-2191C>T	single nucleotide variant	not specified [RCV004232224]	Chr3:129137145 [GRCh38] Chr3:128855988 [GRCh37] Chr3:3q21.3	uncertain significance
NM_020701.4(ISY1):c.419-2238G>C	single nucleotide variant	not specified [RCV004357706]	Chr3:129137192 [GRCh38] Chr3:128856035 [GRCh37] Chr3:3q21.3	uncertain significance
NM_020701.4(ISY1):c.419-2196T>C	single nucleotide variant	EBV-positive nodal T- and NK-cell lymphoma [RCV004557740]	Chr3:129137150 [GRCh38] Chr3:128855993 [GRCh37] Chr3:3q21.3	likely benign
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	copy number loss	See cases [RCV000142787]	Chr3:127607945..133566661 [GRCh38] Chr3:127326788..133285505 [GRCh37] Chr3:128809478..134768195 [NCBI36] Chr3:3q21.3-22.1	likely pathogenic
NC_000003.11:g.(?_126707437)_(130720194_?)dup	duplication	Deafness-lymphedema-leukemia syndrome [RCV003113323]\|not provided [RCV003107782]	Chr3:126707437..130720194 [GRCh37] Chr3:3q21.3-22.1	uncertain significance\|no classifications from unflagged records
NM_020701.4(ISY1):c.419-2210G>A	single nucleotide variant	not specified [RCV004405457]	Chr3:129137164 [GRCh38] Chr3:128856007 [GRCh37] Chr3:3q21.3	uncertain significance
NM_020701.4(ISY1):c.587G>C (p.Arg196Pro)	single nucleotide variant	not specified [RCV004633292]	Chr3:129134150 [GRCh38] Chr3:128852993 [GRCh37] Chr3:3q21.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3015
Count of miRNA genes:	1020
Interacting mature miRNAs:	1284
Transcripts:	ENST00000273541, ENST00000393292, ENST00000393295, ENST00000471306, ENST00000471497, ENST00000485703, ENST00000496163
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.

STS-T59511

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	128,848,524 - 128,848,660	UniSTS	GRCh37
Build 36	3	130,331,214 - 130,331,350	RGD	NCBI36
Celera	3	127,280,153 - 127,280,289	RGD
Cytogenetic Map	3	q21.3	UniSTS
HuRef	3	126,234,884 - 126,235,020	UniSTS
GeneMap99-GB4 RH Map	3	458.7	UniSTS

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


RefSeq Transcripts	NM_001199469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC108673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG282120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JQ511932	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000273541 ⟹ ENSP00000273541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,129,374 - 129,161,048 (-)	Ensembl

Ensembl Acc Id:

ENST00000393292 ⟹ ENSP00000376970

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,130,017 - 129,161,037 (-)	Ensembl

Ensembl Acc Id:

ENST00000393295 ⟹ ENSP00000376973

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,127,415 - 129,161,063 (-)	Ensembl

Ensembl Acc Id:

ENST00000471306

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,129,791 - 129,130,703 (-)	Ensembl

Ensembl Acc Id:

ENST00000471497

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,129,374 - 129,156,889 (-)	Ensembl

Ensembl Acc Id:

ENST00000485703 ⟹ ENSP00000422403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,134,075 - 129,161,028 (-)	Ensembl

Ensembl Acc Id:

ENST00000496163 ⟹ ENSP00000426416

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,129,879 - 129,145,874 (-)	Ensembl

RefSeq Acc Id:

NM_001199469 ⟹ NP_001186398

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,127,415 - 129,161,063 (-)	NCBI
GRCh37	3	128,846,259 - 128,880,409 (-)	NCBI
HuRef	3	126,232,620 - 126,266,455 (-)	ENTREZGENE
CHM1_1	3	128,809,709 - 128,843,507 (-)	NCBI
T2T-CHM13v2.0	3	131,872,317 - 131,905,969 (-)	NCBI

Sequence:

show sequence

AGTTCCTGTGAGCGTCGGCGTCTTCTGGGCCTGTGGAGTTTCTTGGACAGGGGCCGCGGGGCTCCAGGACGGCGCCCTTAGCGACACCATGGCCCGAAATGCAGAAAAGGCCATGACGGCCTTAGCAA
GATTTCGCCAGGCTCAGCTGGAAGAGGGAAAAGTGAAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGATCATTGGAGAGATCTCTAAAAAA
GTGGCTCAGATTCAGAATGCTGGTTTAGGTGAATTTCGAATTCGTGACCTGAATGATGAAATTAACAAGCTGCTAAGGGAGAAAGGACACTGGGAGGTCCGGATAAAGGAGCTGGGAGGTCCTGATTA
TGGAAAAGTTGGCCCTAAAATGCTGGATCATGAAGGAAAAGAAGTCCCAGGAAACCGAGGTTACAAGTACTTTGGAGCAGCAAAAGATTTGCCTGGTGTTAGAGAGCTGTTTGAAAAAGAACGCCAGG
TGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGCTCTTCCTCCTCCCAGAAAGACACGTGCTGAGCTCATGAAGGCAATCGATTTTGAGTACTATGGTTAC
CTAGATGAAGATGATGGTGTTATTGTGCCTTTGGAACAGGAATATGAAAAGAAACTCAGAGCCGAGTTAGTGGAAAAGTGGAAAGCAGAGAGAGAGGCTCGGCTGGCAAGAGGAGAAAAGGAAGAGGA
GGAGGAAGAGGAGGAAGAGATCAACATCTATGCAGTCACCGAGGAGGAGTCGGACGAGGAAGGCAGCCAGGAGAAAGGAGGGGACGACAGCCAGCAGAAGTTCATTGCTCACGTCCCTGTTCCCTCGC
AGCAAGAGATTGAGGAGGCACTGGTGCGAAGGAAGAAAATGGAACTCCTCCAGAAGTATGCAAGCGAGACCCTGCAGGCCCAAAGTGAAGAAGCCAGAAGGCTCCTGGGGTATTAGGACCCAGCTGGG
GCTCTCCTTGGAGTTCTTCCATCCCCCAGTGGTACCTCAGGACCCAGGGCTGCAGACACAGGCTGGTGCTGCAAGGGCTCCTGCCCCATTCTCAGCCTTCCTTCCCTCTCCTTGTCTCATGTTGACCG
GAGGGTAGGGGTCTGTCCCTGGTCTTCCTGGTAGGTTTTGTACACATATTTTGCTACTGTGTGGATCCATTTATTTTTATTGTGGAGTGTATACAACAGGTTGCGAACTGGCTGCCTGTGTCTTATTT
TGACTTGCACTGCCATTTTGAGGGGAGAAGAATCAATTAGTGGCAAACATTTAAAAATGCAATTTTTTGCAGACCAAAGTATAATTTTAAAAAATGCAAATTTTCTAAAAGACACATCTCTTGAAAAA
TGAGATGATGTGGCCAGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCACGAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATGTCTAC
TAAAAATACAAAAAAATTAGCTGGGCGTACTGGCATGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGAGAGGTGGAGGTTGAAGTGAGCCAAGATCGTGCCATT
GCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAGATGCACGCAACCCACAAGTCAATGACCAGGTCCCTCTGTGTTGGTTGCTGCTCTGGGCTCTCCGTTAGCCCC
CCTCCACCTGCTCCACTCGCTCCTGCCTGGGTGGCAGGAATTTGAGTTTGCTATTCCTGTTTTATAACCTGTTCTGCAGAAACCTATTTTTATTAAAGATTTTTATAAGAAAGGGAAACCTCCATGTC
TTCAGCTTGTTCCCTGGGCCAACGGCTCTGAGGTGACAGTGGCATTAGGATGTGACCAGTCACTAAGGGGCACTGCCTTCCTGCAGGGGAGTCCCTGAAGCCCCAGCCCCAAGTGTGGCAAAGACAGG
ACCAGATCCCAGGAGTCTAGGTGGGAGTGAGCCGACCCACCATGGCGTCCGTGGCCACAGCTGTAGACAGGGCTCCTTGCAGTGGGCTGCACCGTGGCCTGCTGAAAGCACACAGTGGACACGAGCTG
AGTCCAGAGCTTCCTCTGAACTGGGGCTTAGCTCTCCAGTGGGGAACCATGGTCAGCGGCTGTAGCCCCTGGGCAAGATGGTGCCTGGCTTCCTGCCCTCTGCAGGGTCATGGGAGTGTCTGGGAACT
CAGGGTCAGGGCCAGATGGCTGTTCCTGGGGCCTGGGGCTCCAGCTCAGGCTGTTTGGGAATAGGAGGAACTCTTGGCTTGGAGAAGCCCATCACACAGCGGGAGGCCTGGGATGGTTGGTCTGCGGG
GAGCAGCTCAGACTGGGGGTGGCAGAGCCGTGTGTGGCTGTGTGTGGCCAAGTCGGGAGAGTGGCCAGTGCTGGGCCCTCTCTAAGGAGCCCGAGGGCCACAAGGACTGTGGAAAAGGTCTGAGTGAG
GGAGTCGGGAGCTAGTGGCTAAGGGACTTGCTTGAGGACGCTCCGTGCGGCCACAAGGAGAGGCCCAGGCAGGACCAGGTCAGGAGGAGGCTGGGGCAGAGGCCCTGGCAGGAGGTGGGTGGGCTTGG
TGGGGATGGGAGTAGCCAGGGTGTAGGTGAGGATGGGGAAGGGGCCCCCCTGCCTCCTGGCTTCCCTGAGGGCTGGGCTGGCCAATCCCAGCCCTCAGTCAAGCCCGGAGGCAAATGTGTGCAGGGAG
GAGAGGTGTCCAGGTTGAAGCTTTGGGAGCCCTTGGAGGCAGCAAGGCAGACTCGCCTCTGGGACCCAGCACCCAGCTTGGGCCTGCAGGTGGGGACTCAGGAGTGAATATCGTGGGGGCTTTGAGCA
AGACCCTCTGGGCCCAGCCTCACCTTCCATACTTTGAAGTCAAGGAGTGGACCTGTGCTGTCTCAGTTTGCTCTGGGGTCTGGGCAGTCCTGTGGTTTGGGCAGAGGCCTCAGAGGGCCCTAGGGACA
GACTGACCCAGGTCTGAGCCTCTTGGGAGCGTGCGGATGGCCGGCCTCAGACAGGCCTGGTTGTGGGTTTGTCTTCCAAGGGGCACACGCGCACTCTGGTGCTTCCTGGCATTCAGAAGAGAATGGGG
AATCCAGACATCAGGCCTTCCTTCTCCCTGGGAAGGATGGCAGGTGCTTGGAGCCAGGCCTGTCTTGAGAGCCAGGGCTCTGGGTCTTCCTCCTCCAGTGCCCTGTTCCACGCCTTCAGTGCACAAAG
CACTCCCCTCCTGGGATCTCTTCAGGGATCCCCGGGATGCAAACTGGCCAGGGATTAGAATTCCACATTTGAGCAAACAGACTGAGAGTGGAGAAGCACCCAGCTGGACATCCTCTAGGTGTTCCTGG
CAGAGGCCCTTGCTACTTGTCTGTGCCCAAAGGCCCTAGAGGGTCCTAGATGTGGGACAAGGTCTCAGCAGGGCTCCAGTCCCAGGCCTGGAAACAGCTGGGGGTGGGGGAAGCTGGCTGGGTGGGTG
TGGTTATCTTTTCCCAGCTTGTGGCTCCGAGGTGACAGAACCAATCTCAGGAGGCTTTGTTTGGTTAATAAAATCTACTGAATGGTTTATTTTA

hide sequence

RefSeq Acc Id:

NM_020701 ⟹ NP_065752

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,127,415 - 129,161,063 (-)	NCBI
GRCh37	3	128,846,259 - 128,880,409 (-)	NCBI
Build 36	3	130,330,925 - 130,362,719 (-)	NCBI Archive
Celera	3	127,279,847 - 127,296,403 (-)	RGD
HuRef	3	126,232,620 - 126,266,455 (-)	ENTREZGENE
CHM1_1	3	128,809,709 - 128,843,507 (-)	NCBI
T2T-CHM13v2.0	3	131,872,317 - 131,905,969 (-)	NCBI

Sequence:

show sequence

AGTTCCTGTGAGCGTCGGCGTCTTCTGGGCCTGTGGAGTTTCTTGGACAGGGGCCGCGGGGCTCCAGGACGGCGCCCTTAGCGACACCATGGCCCGAAATGCAGAAAAGGCCATGACGGCCTTAGCAA
GATTTCGCCAGGCTCAGCTGGAAGAGGGAAAAGTGAAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGATCATTGGAGAGATCTCTAAAAAA
GTGGCTCAGATTCAGAATGCTGGTTTAGGTGAATTTCGAATTCGTGACCTGAATGATGAAATTAACAAGCTGCTAAGGGAGAAAGGACACTGGGAGGTCCGGATAAAGGAGCTGGGAGGTCCTGATTA
TGGAAAAGTTGGCCCTAAAATGCTGGATCATGAAGGAAAAGAAGTCCCAGGAAACCGAGGTTACAAGTACTTTGGAGCAGCAAAAGATTTGCCTGGTGTTAGAGAGCTGTTTGAAAAAGAACCTCTTC
CTCCTCCCAGAAAGACACGTGCTGAGCTCATGAAGGCAATCGATTTTGAGTACTATGGTTACCTAGATGAAGATGATGGTGTTATTGTGCCTTTGGAACAGGAATATGAAAAGAAACTCAGAGCCGAG
TTAGTGGAAAAGTGGAAAGCAGAGAGAGAGGCTCGGCTGGCAAGAGGAGAAAAGGAAGAGGAGGAGGAAGAGGAGGAAGAGATCAACATCTATGCAGTCACCGAGGAGGAGTCGGACGAGGAAGGCAG
CCAGGAGAAAGGAGGGGACGACAGCCAGCAGAAGTTCATTGCTCACGTCCCTGTTCCCTCGCAGCAAGAGATTGAGGAGGCACTGGTGCGAAGGAAGAAAATGGAACTCCTCCAGAAGTATGCAAGCG
AGACCCTGCAGGCCCAAAGTGAAGAAGCCAGAAGGCTCCTGGGGTATTAGGACCCAGCTGGGGCTCTCCTTGGAGTTCTTCCATCCCCCAGTGGTACCTCAGGACCCAGGGCTGCAGACACAGGCTGG
TGCTGCAAGGGCTCCTGCCCCATTCTCAGCCTTCCTTCCCTCTCCTTGTCTCATGTTGACCGGAGGGTAGGGGTCTGTCCCTGGTCTTCCTGGTAGGTTTTGTACACATATTTTGCTACTGTGTGGAT
CCATTTATTTTTATTGTGGAGTGTATACAACAGGTTGCGAACTGGCTGCCTGTGTCTTATTTTGACTTGCACTGCCATTTTGAGGGGAGAAGAATCAATTAGTGGCAAACATTTAAAAATGCAATTTT
TTGCAGACCAAAGTATAATTTTAAAAAATGCAAATTTTCTAAAAGACACATCTCTTGAAAAATGAGATGATGTGGCCAGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGG
GCGGGTCACGAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAAAATTAGCTGGGCGTACTGGCATGCACCTGTAGTCCCAGCTGCTTGGGAGGCT
GAGGCAGGAGAATCACTTGAACCCGAGAGGTGGAGGTTGAAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAGATGCACGCAA
CCCACAAGTCAATGACCAGGTCCCTCTGTGTTGGTTGCTGCTCTGGGCTCTCCGTTAGCCCCCCTCCACCTGCTCCACTCGCTCCTGCCTGGGTGGCAGGAATTTGAGTTTGCTATTCCTGTTTTATA
ACCTGTTCTGCAGAAACCTATTTTTATTAAAGATTTTTATAAGAAAGGGAAACCTCCATGTCTTCAGCTTGTTCCCTGGGCCAACGGCTCTGAGGTGACAGTGGCATTAGGATGTGACCAGTCACTAA
GGGGCACTGCCTTCCTGCAGGGGAGTCCCTGAAGCCCCAGCCCCAAGTGTGGCAAAGACAGGACCAGATCCCAGGAGTCTAGGTGGGAGTGAGCCGACCCACCATGGCGTCCGTGGCCACAGCTGTAG
ACAGGGCTCCTTGCAGTGGGCTGCACCGTGGCCTGCTGAAAGCACACAGTGGACACGAGCTGAGTCCAGAGCTTCCTCTGAACTGGGGCTTAGCTCTCCAGTGGGGAACCATGGTCAGCGGCTGTAGC
CCCTGGGCAAGATGGTGCCTGGCTTCCTGCCCTCTGCAGGGTCATGGGAGTGTCTGGGAACTCAGGGTCAGGGCCAGATGGCTGTTCCTGGGGCCTGGGGCTCCAGCTCAGGCTGTTTGGGAATAGGA
GGAACTCTTGGCTTGGAGAAGCCCATCACACAGCGGGAGGCCTGGGATGGTTGGTCTGCGGGGAGCAGCTCAGACTGGGGGTGGCAGAGCCGTGTGTGGCTGTGTGTGGCCAAGTCGGGAGAGTGGCC
AGTGCTGGGCCCTCTCTAAGGAGCCCGAGGGCCACAAGGACTGTGGAAAAGGTCTGAGTGAGGGAGTCGGGAGCTAGTGGCTAAGGGACTTGCTTGAGGACGCTCCGTGCGGCCACAAGGAGAGGCCC
AGGCAGGACCAGGTCAGGAGGAGGCTGGGGCAGAGGCCCTGGCAGGAGGTGGGTGGGCTTGGTGGGGATGGGAGTAGCCAGGGTGTAGGTGAGGATGGGGAAGGGGCCCCCCTGCCTCCTGGCTTCCC
TGAGGGCTGGGCTGGCCAATCCCAGCCCTCAGTCAAGCCCGGAGGCAAATGTGTGCAGGGAGGAGAGGTGTCCAGGTTGAAGCTTTGGGAGCCCTTGGAGGCAGCAAGGCAGACTCGCCTCTGGGACC
CAGCACCCAGCTTGGGCCTGCAGGTGGGGACTCAGGAGTGAATATCGTGGGGGCTTTGAGCAAGACCCTCTGGGCCCAGCCTCACCTTCCATACTTTGAAGTCAAGGAGTGGACCTGTGCTGTCTCAG
TTTGCTCTGGGGTCTGGGCAGTCCTGTGGTTTGGGCAGAGGCCTCAGAGGGCCCTAGGGACAGACTGACCCAGGTCTGAGCCTCTTGGGAGCGTGCGGATGGCCGGCCTCAGACAGGCCTGGTTGTGG
GTTTGTCTTCCAAGGGGCACACGCGCACTCTGGTGCTTCCTGGCATTCAGAAGAGAATGGGGAATCCAGACATCAGGCCTTCCTTCTCCCTGGGAAGGATGGCAGGTGCTTGGAGCCAGGCCTGTCTT
GAGAGCCAGGGCTCTGGGTCTTCCTCCTCCAGTGCCCTGTTCCACGCCTTCAGTGCACAAAGCACTCCCCTCCTGGGATCTCTTCAGGGATCCCCGGGATGCAAACTGGCCAGGGATTAGAATTCCAC
ATTTGAGCAAACAGACTGAGAGTGGAGAAGCACCCAGCTGGACATCCTCTAGGTGTTCCTGGCAGAGGCCCTTGCTACTTGTCTGTGCCCAAAGGCCCTAGAGGGTCCTAGATGTGGGACAAGGTCTC
AGCAGGGCTCCAGTCCCAGGCCTGGAAACAGCTGGGGGTGGGGGAAGCTGGCTGGGTGGGTGTGGTTATCTTTTCCCAGCTTGTGGCTCCGAGGTGACAGAACCAATCTCAGGAGGCTTTGTTTGGTT
AATAAAATCTACTGAATGGTTTATTTTA

hide sequence


Protein RefSeqs	NP_001186398	(Get FASTA)	NCBI Sequence Viewer
	NP_065752	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH04442	(Get FASTA)	NCBI Sequence Viewer
	AAH07409	(Get FASTA)	NCBI Sequence Viewer
	AAH19849	(Get FASTA)	NCBI Sequence Viewer
	AFG72967	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000273541
	ENSP00000273541.8
	ENSP00000376973
	ENSP00000376973.4
GenBank Protein	Q9ULR0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_065752 ⟸ NM_020701
- Peptide Label:	isoform 2
- UniProtKB:	Q96IL2 (UniProtKB/Swiss-Prot), Q9BT05 (UniProtKB/Swiss-Prot), Q9ULR0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MARNAEKAMTALARFRQAQLEEGKVKERRPFLASECTELPKAEKWRRQIIGEISKKVAQIQNAGLGEFRIRDLNDEINKLLREKGHWEVRIKELGGPDYGKVGPKMLDHEGKEVPGNRGYKYFGAAKD LPGVRELFEKEPLPPPRKTRAELMKAIDFEYYGYLDEDDGVIVPLEQEYEKKLRAELVEKWKAEREARLARGEKEEEEEEEEEINIYAVTEEESDEEGSQEKGGDDSQQKFIAHVPVPSQQEIEEALV RRKKMELLQKYASETLQAQSEEARRLLGY hide sequence

RefSeq Acc Id:	NP_001186398 ⟸ NM_001199469
- Peptide Label:	isoform 1
- UniProtKB:	Q9ULR0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MARNAEKAMTALARFRQAQLEEGKVKERRPFLASECTELPKAEKWRRQIIGEISKKVAQIQNAG LGEFRIRDLNDEINKLLREKGHWEVRIKELGGPDYGKVGPKMLDHEGKEVPGNRGYKYFGAAKDLPGVRELFEKERQVRWLMPVIPALWEAEAGGSQALPPPRKTRAELMKAIDFEYYGYLDEDDGVI VPLEQEYEKKLRAELVEKWKAEREARLARGEKEEEEEEEEEINIYAVTEEESDEEGSQEKGGDDSQQKFIAHVPVPSQQEIEEALVRRKKMELLQKYASETLQAQSEEARRLLGY hide sequence

Ensembl Acc Id:

ENSP00000426416 ⟸ ENST00000496163

Ensembl Acc Id:

ENSP00000273541 ⟸ ENST00000273541

Ensembl Acc Id:

ENSP00000422403 ⟸ ENST00000485703

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9ULR0-F1-model_v2	AlphaFold	Q9ULR0	1-285	view protein structure

RGD ID:

6865626

Promoter ID:

EPDNEW_H5978

Type:

initiation region

Name:

ISY1_1

Description:

ISY1 splicing factor homolog

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5979

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,161,063 - 129,161,123	EPDNEW

RGD ID:

6865628

Promoter ID:

EPDNEW_H5979

Type:

initiation region

Name:

ISY1_2

Description:

ISY1 splicing factor homolog

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5978

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,161,305 - 129,161,365	EPDNEW

RGD ID:

6801202

Promoter ID:

HG_KWN:46158

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000393304, ENST00000393305, ENST00000393307, ENST00000393308, OTTHUMT00000267849, OTTHUMT00000267854, UC010HSY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	130,322,936 - 130,325,287 (-)	MPROMDB

RGD ID:

6801018

Promoter ID:

HG_KWN:46163

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:

ENST00000393292, ENST00000393295, OTTHUMT00000267858, OTTHUMT00000267859, UC003ELO.1, UC010HTA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	130,362,881 - 130,363,817 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	ISY1	COSMIC
Ensembl Genes	ENSG00000240682	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000273541	ENTREZGENE
	ENST00000273541.12	UniProtKB/Swiss-Prot
	ENST00000393295	ENTREZGENE
	ENST00000393295.8	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.660	UniProtKB/Swiss-Prot
GTEx	ENSG00000240682	GTEx
HGNC ID	HGNC:29201	ENTREZGENE
Human Proteome Map	ISY1	Human Proteome Map
InterPro	Helix_hairpin_bin_sf	UniProtKB/Swiss-Prot
	Isy1	UniProtKB/Swiss-Prot
	Isy1_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:100534599	UniProtKB/Swiss-Prot
	hsa:57461	UniProtKB/Swiss-Prot
NCBI Gene	57461	ENTREZGENE
OMIM	612764	OMIM
PANTHER	PTHR13021	UniProtKB/Swiss-Prot
Pfam	Isy1	UniProtKB/Swiss-Prot
PharmGKB	PA162392343	PharmGKB
Superfamily-SCOP	SSF140102	UniProtKB/Swiss-Prot
UniProt	A8MVI5_HUMAN	UniProtKB/TrEMBL
	D6RC18_HUMAN	UniProtKB/TrEMBL
	H0YA89_HUMAN	UniProtKB/TrEMBL
	ISY1_HUMAN	UniProtKB/Swiss-Prot
	Q96IL2	ENTREZGENE
	Q9BT05	ENTREZGENE
	Q9ULR0	ENTREZGENE
UniProt Secondary	Q96IL2	UniProtKB/Swiss-Prot
	Q9BT05	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-07-07	ISY1	ISY1 splicing factor homolog		ISY1 splicing factor homolog (S. cerevisiae)	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)