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

Gene ID: 2516, updated on 17-Oct-2021

Summary

Official Symbol
NR5A1provided by HGNC
Official Full Name
nuclear receptor subfamily 5 group A member 1provided by HGNC
Primary source
HGNC:HGNC:7983
See related
Ensembl:ENSG00000136931 MIM:184757
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; SRXX4; SRXY3; hSF-1
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]
Annotation information
Note: SF1 (Gene ID: 7536) and NR5A1 (Gene ID: 2516) share the SF1 symbol/alias in common. SF1 is a widely used alternative name for nuclear receptor subfamily 5 group A member 1 (NR5A1), which can be confused with the official symbol for SF1 (splicing factor 1). [01 Jun 2018]
Expression
Biased expression in adrenal (RPKM 53.3), spleen (RPKM 52.8) and 2 other tissues See more
Orthologs
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Genomic context

See NR5A1 in Genome Data Viewer
Location:
9q33.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (124481236..124507399, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127243515..127269678, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100129034 Neighboring gene proteasome 20S subunit beta 7 Neighboring gene uncharacterized LOC105376270 Neighboring gene adhesion G protein-coupled receptor D2 Neighboring gene NR5A1 5' promoter region Neighboring gene nuclear receptor subfamily 6 group A member 1 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 302, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
46,XX sex reversal 4
MedGen: C4479552 OMIM: 617480 GeneReviews: Not available
Compare labs
46,XY sex reversal, type 3
MedGen: C3489793 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
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-24)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-02-24)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adrenal gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in calcineurin-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in female gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in luteinization IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of protein location in nucleus IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in male sex determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of female gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of male gonad development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in primary sex determination TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to gonadotropin-releasing hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in sex determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of RNA polymerase II transcription regulator complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
steroidogenic factor 1
Names
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

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

    Range
    5022..31185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004959.5NP_004950.2  steroidogenic factor 1

    See identical proteins and their annotated locations for NP_004950.2

    Status: REVIEWED

    Source sequence(s)
    AK090858, BC032501, U76388
    Consensus CDS
    CCDS6856.1
    UniProtKB/Swiss-Prot
    Q13285
    UniProtKB/TrEMBL
    F1D8R8
    Related
    ENSP00000362690.4, ENST00000373588.9
    Conserved Domains (3) summary
    cd07070
    Location:223459
    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
    pfam15822
    Location:140221
    MISS; MAPK-interacting and spindle-stabilizing protein-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    124481236..124507399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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