Gene
nr5a1a
- ID
- ZDB-GENE-010504-1
- Name
- nuclear receptor subfamily 5, group A, member 1a
- Symbol
- nr5a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Enables DNA binding activity and DNA-binding transcription factor activity. Involved in hormone-mediated signaling pathway; regulation of transcription by RNA polymerase II; and tissue development. Acts upstream of or within several processes, including endocrine system development; hypothalamus development; and transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be part of 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 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
- 58 figures from 31 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- af198086 (10 images)
Wild Type Expression Summary
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:A0A0R4IN39
|
136 | ||||||
|
UniProtKB:F1QJG0
|
454 | ||||||
|
UniProtKB:Q9IAI9
|
454 | ||||||
|
UniProtKB:A0A0R4ITX5
|
369 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
nr5a1a-201
(1)
|
2531 nt | |
| mRNA |
nr5a1a-202
(1)
|
505 nt | |
| mRNA |
nr5a1a-203
(1)
|
1345 nt |
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-nr5a1a | polyclonal | Rabbit |
|
1 |
Plasmids
No data available