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

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; AllianceGenome:HGNC:7983
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: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (124481236..124507399, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (136679465..136705624, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (127243515..127269678, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Title: Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.
Title: Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Title: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Steroidogenic Factor-1 form and function: From phospholipids to physiology.
Title: Steroidogenic Factor-1 form and function: From phospholipids to physiology.
Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
Title: Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Title: Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Title: Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
SF-1 Induces Nuclear PIP2.
Title: SF-1 Induces Nuclear PIP2.
Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
Title: Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Title: Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

Submit: New GeneRIF Correction See all GeneRIFs (216)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
46,XX sex reversal 4 MedGen: C4479552 OMIM: 617480 GeneReviews: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development	Compare labs
46,XY sex reversal 3 MedGen: C3489793 OMIM: 612965 GeneReviews: Not available	not available
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Leydig cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in Sertoli cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in adrenal gland development	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
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 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
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

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RNA polymerase II transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info
part_of 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

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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

NG_008176.1 RefSeqGene

Range

5022..31185

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004959.5 → NP_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

O15196, Q13285, Q5T6F5

UniProtKB/TrEMBL

B6ZGU8, F1D8R8

Related

ENSP00000362690.4, ENST00000373588.9

Conserved Domains (3) summary

cd07070
Location:223 → 459

NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily

cd07167
Location:13 → 105

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:140 → 221

MISS; MAPK-interacting and spindle-stabilizing protein-like