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Gene: NR5A1 (nuclear receptor subfamily 5 group A member 1) Homo sapiens
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Symbol: NR5A1
Name: nuclear receptor subfamily 5 group A member 1
Description: Exhibits several functions, including RNA polymerase II regulatory region sequence-specific DNA binding activity; nuclear receptor activity; and phospholipid binding activity. Involved in several processes, including gonad development; male sex determination; and positive regulation of male gonad development. Localizes to the nucleus. Implicated in 46 XY gonadal dysgenesis; Zellweger syndrome; premature ovarian failure; and spermatogenic failure 8.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AD4BP; adrenal 4 binding protein; adrenal 4-binding protein; ELP; FTZ1; FTZF1; fushi tarazu factor homolog 1; hSF-1; nuclear receptor AdBP4; nuclear receptor subfamily 5, group A, member 1; POF7; SF-1; SF1; SPGF8; SRXX4; SRXY3; steroid hormone receptor Ad4BP; steroidogenic factor 1; steroidogenic factor 1 nuclear receptor; steroidogenic factor-1; STF-1
Orthologs:
Mus musculus (house mouse) : Nr5a1 (nuclear receptor subfamily 5, group A, member 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nr5a1 (nuclear receptor subfamily 5, group A, member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nr5a1 (nuclear receptor subfamily 5 group A member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : NR5A1 (nuclear receptor subfamily 5 group A member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nr5a1 (nuclear receptor subfamily 5 group A member 1)
Sus scrofa (pig) : NR5A1 (nuclear receptor subfamily 5 group A member 1)
Chlorocebus sabaeus (green monkey) : NR5A1 (nuclear receptor subfamily 5 group A member 1)
Heterocephalus glaber (naked mole-rat) : Nr5a1 (nuclear receptor subfamily 5 group A member 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI 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]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl9124,481,236 - 124,507,420 (-)Ensembl
GRCh389124,481,236 - 124,507,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379127,243,515 - 127,269,769 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369126,283,336 - 126,309,520 (-)NCBINCBI36hg18NCBI36
Build 349124,323,069 - 124,349,253NCBI
Celera997,890,732 - 97,916,915 (-)NCBI
Cytogenetic Map9q33.3NCBI
HuRef996,856,059 - 96,882,213 (-)NCBIHuRef
CHM1_19127,392,508 - 127,418,653 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NR5A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 68493
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.