InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NR5A1

Summary

InnateDB Protein

IDBP-84851.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NR5A1

Protein Name

nuclear receptor subfamily 5, group A, member 1

Synonyms

AD4BP; ELP; FTZ1; FTZF1; POF7; SF-1; SF1; SPGF8; SRXY3;

Species

Homo sapiens

Ensembl Protein

ENSP00000362690

InnateDB Gene

IDBG-84849 (NR5A1)

Protein Structure

UniProt Annotation

Function

Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO- NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. {ECO:0000250, ECO:0000269PubMed:17210646}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00407, ECO:0000269PubMed:11479297}.

Disease Associations

46,XY sex reversal 3 (SRXY3) [MIM:612965]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269PubMed:10369247, ECO:0000269PubMed:11932325, ECO:0000269PubMed:17200175, ECO:0000269PubMed:17694559}. Note=The disease is caused by mutations affecting the gene represented in this entry.Adrenocortical insufficiency, without ovarian defect (ACIWOD) [MIM:184757]: A disorder that is characterized by severe 'slackness,' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH. {ECO:0000269PubMed:11038323}. Note=The disease is caused by mutations affecting the gene represented in this entry.Premature ovarian failure 7 (POF7) [MIM:612964]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269PubMed:19246354}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. {ECO:0000269PubMed:20887963}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	28 [view]
Protein-Protein	26 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003690	double-stranded DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003707	steroid hormone receptor activity
GO:0003713	transcription coactivator activity
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005515	protein binding
GO:0005543	phospholipid binding
GO:0008270	zinc ion binding
GO:0019899	enzyme binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0001553	luteinization
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007267	cell-cell signaling
GO:0007538	primary sex determination
GO:0008584	male gonad development
GO:0008585	female gonad development
GO:0009888	tissue development
GO:0010259	multicellular organismal aging
GO:0010467	gene expression
GO:0022414	reproductive process
GO:0030154	cell differentiation
GO:0030325	adrenal gland development
GO:0030522	intracellular receptor signaling pathway
GO:0042445	hormone metabolic process
GO:0043401	steroid hormone mediated signaling pathway
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050810	regulation of steroid biosynthetic process
GO:0051457	maintenance of protein location in nucleus
GO:2000020	positive regulation of male gonad development
GO:2000195	negative regulation of female gonad development

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR008946 Nuclear hormone receptor, ligand-binding
IPR016355 Steroidogenic factor 1

PFAM

PF00104
PF00105

PRINTS

PR00047
PR00398

PIRSF

PIRSF002530

SMART

SM00430
SM00399

TIGRFAMs

Post-translational Modifications

Modification

Cross-References