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NR5A1 nuclear receptor subfamily 5, group A, member 1 [ Homo sapiens (human) ]

Gene ID: 2516, updated on 12-Dec-2014
Official Symbol
NR5A1provided by HGNC
Official Full Name
nuclear receptor subfamily 5, group A, member 1provided by HGNC
Primary source
HGNC:HGNC:7983
Locus tag
RP11-101K10.1
See related
Ensembl:ENSG00000136931; HPRD:01702; MIM:184757; Vega:OTTHUMG00000020655
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELP; SF1; FTZ1; POF7; SF-1; AD4BP; FTZF1; SPGF8; SRXY3
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]
See NR5A1 in Epigenomics, MapViewer
Location:
9q33
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (124481232..124507487, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127243515..127269769, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100129034 Neighboring gene proteasome (prosome, macropain) subunit, beta type, 7 Neighboring gene G protein-coupled receptor 144 Neighboring gene nuclear receptor subfamily 6, group A, member 1 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene MIR181A2 host gene (non-protein coding) Neighboring gene microRNA 181a-2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
46,XY sex reversal, type 3
MedGen: C2751824 OMIM: 612965 GeneReviews: Not available
Compare labs
Premature ovarian failure 7
MedGen: C2751825 OMIM: 612964 GeneReviews: Not available
Compare labs
Spermatogenic failure 8
MedGen: C3151406 OMIM: 613957 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

ClinGen Genome Curation PagePubMed
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adrenal gland development IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
intracellular receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
luteinization IEA
Inferred from Electronic Annotation
more info
 
maintenance of protein location in nucleus IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of female gonad development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of male gonad development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
primary sex determination TAS
Traceable Author Statement
more info
PubMed 
regulation of steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
tissue development IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
steroidogenic factor 1
Names
steroidogenic factor 1
STF-1
nuclear receptor AdBP4
steroidogenic factor-1
adrenal 4 binding protein
adrenal 4-binding protein
fushi tarazu factor homolog 1
steroid hormone receptor Ad4BP
steroidogenic factor 1 nuclear receptor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008176.1 

    Range
    5001..31185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004959.4NP_004950.2  steroidogenic factor 1

    See proteins identical to NP_004950.2

    Status: REVIEWED

    Source sequence(s)
    AK090858, BC032501, U76388
    Consensus CDS
    CCDS6856.1
    UniProtKB/TrEMBL
    F1D8R8
    UniProtKB/Swiss-Prot
    Q13285
    Related
    ENSP00000362690, OTTHUMP00000022104, ENST00000373588, OTTHUMT00000054029
    Conserved Domains (2) summary
    cd07070
    Location:236459
    NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
    cd07167
    Location:13105
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    124481232..124507487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251872.2XP_005251929.1  

    Conserved Domains (2) summary
    cd07070
    Location:149372
    NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
    cl02596
    Location:118
    NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
  2. XM_005251871.2XP_005251928.1  

    See proteins identical to XP_005251928.1

    UniProtKB/TrEMBL
    F1D8R8
    UniProtKB/Swiss-Prot
    Q13285
    Conserved Domains (2) summary
    cd07070
    Location:236459
    NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
    cd07167
    Location:13105
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  3. XM_005251873.1XP_005251930.1  

    Conserved Domains (2) summary
    cd07167
    Location:13105
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
    cl11397
    Location:236291
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    127392508..127418653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    96856059..96882213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)