Gene

nr5a1a

ID
ZDB-GENE-010504-1
Name
nuclear receptor subfamily 5, group A, member 1a
Symbol
nr5a1a Nomenclature History
Previous Names
  • nr5a4 (2)
  • SF1-A (1)
  • ff1b (4)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Exhibits DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including endocrine system development; hypothalamus development; and transcription, DNA-templated. Predicted to localize to RNA polymerase II transcription regulator complex. Is expressed in endocrine system; forebrain; gonad primordium; and interrenal primordium. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1).
Genome Resources
Note
None
Expression
All Expression Data
58 figures from 31 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nr5a1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
46,XX sex reversal 4 Alliance 46, XX sex reversal 4 617480
46,XY sex reversal 3 Alliance 46XY sex reversal 3 612965
primary ovarian insufficiency 7 Alliance Adrenocortical insufficiency 612964
primary ovarian insufficiency 7 Alliance Premature ovarian failure 7 612964
spermatogenic failure 8 Alliance Spermatogenic failure 8 613957
Associated With nr5a1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000536 Nuclear hormone receptor, ligand-binding domain
Domain IPR001628 Zinc finger, nuclear hormone receptor-type
Family IPR001723 Nuclear hormone receptor
Family IPR016355 Nuclear hormone receptor family 5
Homologous_superfamily IPR013088 Zinc finger, NHR/GATA-type
Homologous_superfamily IPR035500 Nuclear hormone receptor-like domain superfamily
Domain Details Per Protein
Protein Length Nuclear hormone receptor Nuclear hormone receptor family 5 Nuclear hormone receptor, ligand-binding domain Nuclear hormone receptor-like domain superfamily Zinc finger, NHR/GATA-type Zinc finger, nuclear hormone receptor-type
UniProtKB:A0A0R4IN39 136
UniProtKB:F1QJG0 454
UniProtKB:Q9IAI9 454
UniProtKB:A0A0R4ITX5 369
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-nr5a1a polyclonal Rabbit
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations