NR5A1
Sign in to saveAlso known as AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8
protein-coding gene in the species Homo sapiens
Gene data
NR5A1- Name
- nuclear receptor subfamily 5 group A member 1
- Type
- protein-coding
- Position
- 124,481,231–124,507,456 (−)
- Aliases
- AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3
- Ensembl
- ENSG00000136931
- RefSeq RNA
- NM_004959.5
- RefSeq protein
- NP_004950.2
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].
Gene Ontology
Biological process
Molecular function
RNA polymerase II transcription regulatory region sequence-specific DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription activator activitytranscription coregulator binding
Pathways
Cortisol synthesis and secretion - Homo sapiens (human)Cushing syndrome - Homo sapiens (human)Developmental BiologyDevelopmental BiologyGeneric Transcription PathwaySUMOylationSUMO E3 ligases SUMOylate target proteinsNuclear Receptor transcription pathwayMetabolism of proteinsSUMOylation of intracellular receptors
via MyGene.info
Gene · Ensembl
nuclear receptor subfamily 5 group A member 1
- Symbol
- NR5A1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:124,481,231-124,507,456
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI