Gene

nr5a1b

ID
ZDB-GENE-040702-6
Name
nuclear receptor subfamily 5, group A, member 1b
Symbol
nr5a1b Nomenclature History
Previous Names
  • nr5a2l
  • SF1-B (1)
  • ff1d (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in hormone-mediated signaling pathway; regulation of transcription by RNA polymerase II; and tissue development. Predicted to localize to RNA polymerase II transcription regulator complex. Is expressed in central nervous system; gonad; heart; and musculature system. 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
Comparative Information
Expression
All Expression Data
15 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nr5a1b 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 nr5a1b 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:Q800U8 502
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations