NR5A1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NR5A1 |
| Official Name | nuclear receptor subfamily 5 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7983] |
| Ensembl ID | ENSG00000136931 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 5 group A member 1, steroidogenic factor 1 |
| Synonyms | AD4BP, Ad4BP/SF-1, ELP, ELP-3, FTZ1, FTZF1, hSF-1, nuclear receptor subfamily 5 group A member 1, nuclear receptor subfamily 5, group A, member 1, POF7, SF-1, SPGF8, SRXX4, SRXY3, STF-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NR5A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ftz F1 box
- A-box
- transcription regulator
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- transcription activation domain
- transcription factor binding
- proximal repression domain
- AF-2 transcription activation domain
- chromatin binding
- core domain, functional
- proline rich domain
- Proximal (P)-box
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- nuclear receptor ligand binding domain
- ligand-binding domain
- ligand-dependent nuclear receptor
- phospholipid binding
- DNA binding domain
- nucleic acid binding
- enzyme binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- phosphorylation site
- double-stranded DNA binding
- proline cluster domain
- zinc finger domain
- proximal activation domain
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
- RNA-binding domain
Pathways
Biological processes and signaling networks where the NR5A1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- uterine leiomyoma
- leiomyomatosis
- hypospadia
- premature ovarian failure type 7
- 46, XY sex reversal type 3
- obesity
- polycystic ovary syndrome
- sex reversal
role in cell
- production in
- expression in
- differentiation
- proliferation
- apoptosis
- activation in
- number
- quantity
- disorganization
- cell death
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR5A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male gonad development
- positive regulation of male gonad development
- negative regulation of female gonad development
- Sertoli cell differentiation
- female gonad development
- sex determination
- positive regulation of transcription from RNA polymerase II promoter
- hormone metabolic process
- tissue development
- regulation of transcription from RNA polymerase II promoter
- hormone-mediated signaling pathway
- luteinization
- male sex determination
- primary sex determination
- positive regulation of gene expression
- regulation of steroid biosynthetic process
- Leydig cell differentiation
- adrenal gland development
- maintenance of protein location in nucleus
- intracellular receptor mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- chromatin binding
- phospholipid binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription cofactor binding
- DNA binding
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- enzyme binding