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. Acts upstream of or within several processes, including endocrine system development; hypothalamus development; and positive regulation of transcription by RNA polymerase II. 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
- 62 figures from 33 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 | 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:F1QJG0 | InterPro | 454 | ||||||
| UniProtKB:Q9IAI9 | InterPro | 454 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nr5a1a-201
(1)
|
Ensembl | 2,531 nt | ||
| mRNA |
nr5a1a-202
(1)
|
Ensembl | 505 nt | ||
| mRNA |
nr5a1a-203
(1)
|
Ensembl | 1,345 nt |
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-nr5a1a | polyclonal | Rabbit |
|
1 |
Plasmids
No data available