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 enable 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 act upstream of or within phosphorylation. Predicted to be located in nucleus. Predicted to be part of RNA polymerase II transcription regulator complex. Is expressed in central nervous system; heart; interrenal primordium; musculature system; and reproductive system. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency 7; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- ay212920 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Yan et al., 2021
- 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 | 46XX 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-like |
| Homologous_superfamily | IPR013088 | Zinc finger, NHR/GATA-type |
| Homologous_superfamily | IPR035500 | Nuclear hormone receptor-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Nuclear hormone receptor | Nuclear hormone receptor family 5-like | 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 | InterPro | 502 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nr5a1b-201
(1)
|
Ensembl | 2,555 nt |
Interactions and Pathways
No data available
Plasmids
No data available