NR5A1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

NR5A1

Aliases

AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1

Entrez Gene ID

2516

Gene Name

Nuclear receptor subfamily 5 group A member 1

Chromosomal Location

9q33.3

HGNC ID

HGNC:7983

Summary

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_008176.1

RefSeq mRNA

NM_004959.5

e!Ensembl

Gene	ENSG00000136931
Transcript	ENST00000373588, ENST00000373587, ENST00000455734, ENST00000620110
Protein	ENSP00000362690, ENSP00000362689, ENSP00000393245, ENSP00000483309

Gene Ontology (GO)

Show/Hide all(30 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007530	Biological process	Sex determination	IMP	24405868, 27378692, 27490115, 27610946, 27855412
GO:0007538	Biological process	Primary sex determination	TAS	9590178
GO:0008584	Biological process	Male gonad development	IMP	10369247, 27378692
GO:0008585	Biological process	Female gonad development	IMP	27378692
GO:0009755	Biological process	Hormone-mediated signaling pathway	IBA	21873635
GO:0009888	Biological process	Tissue development	IBA	21873635
GO:0010628	Biological process	Positive regulation of gene expression	IDA	27378692
GO:0010628	Biological process	Positive regulation of gene expression	IMP	23610160
GO:0030238	Biological process	Male sex determination	IMP	10369247
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IGI	23610160
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IMP	17664281
GO:0050810	Biological process	Regulation of steroid biosynthetic process	TAS	10567391
GO:2000020	Biological process	Positive regulation of male gonad development	IDA	21412441
GO:0005634	Cellular component	Nucleus	IDA	10567391, 10848616, 17664281
GO:0090575	Cellular component	RNA polymerase II transcription factor complex	IBA	21873635
GO:0000976	Molecular function	Transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000977	Molecular function	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	23610160
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21412441
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0003677	Molecular function	DNA binding	IDA	10567391
GO:0003682	Molecular function	Chromatin binding	IBA	21873635
GO:0003713	Molecular function	Transcription coactivator activity	TAS	8205615
GO:0004879	Molecular function	Nuclear receptor activity	IBA	21873635
GO:0004879	Molecular function	Nuclear receptor activity	IDA	23610160
GO:0005515	Molecular function	Protein binding	IPI	10567391, 14701856, 16709599, 17664281, 21220346, 22927646, 23610160, 25416956, 25910212
GO:0005543	Molecular function	Phospholipid binding	IDA	17664281
GO:0019899	Molecular function	Enzyme binding	IPI	17664281
GO:0043565	Molecular function	Sequence-specific DNA binding	IDA	27378692

Protein Information

Protein Name

Steroidogenic factor 1, STF-1, adrenal 4 binding protein, fushi tarazu factor homolog 1, nuclear receptor AdBP4, steroid hormone receptor Ad4BP, steroidogenic factor 1 nuclear receptor, steroidogenic factor-1

Function

Refseq Proteins

NP_004950.2

UniProt

Q13285

PDB

1ZDT, 4QJR, 4QK4, 1YOW

Pfam

Pfam Accession	Pfam ID
PF00104	Hormone_recep
PF00105	zf-C4