Gene
nr5a1b
- ID
- ZDB-GENE-040702-6
- Name
- nuclear receptor subfamily 5, group A, member 1b
- Symbol
- nr5a1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have chromatin binding activity; nuclear receptor activity; and transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in hormone-mediated signaling pathway; positive regulation of transcription by RNA polymerase II; and tissue development. Predicted to localize to RNA polymerase II transcription factor complex. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; premature ovarian failure; and spermatogenic failure 8. Is expressed in central nervous system; gonad; heart; and musculature system. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- ay212920 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
nr5a1b-201
(1)
|
2555 nt |
Interactions and Pathways
No data available
Plasmids
No data available