Gene
hnf1a
- ID
- ZDB-GENE-021206-12
- Name
- HNF1 homeobox a
- Symbol
- hnf1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity; RNA polymerase II regulatory region sequence-specific DNA binding activity; and protein dimerization activity. Involved in type B pancreatic cell development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in glucose metabolism disease (multiple); liver disease (multiple); and renal cell carcinoma. Orthologous to human HNF1A (HNF1 homeobox A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu405 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from O'Hare et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hepatic adenoma | Alliance | Hepatic adenoma, somatic | 142330 |
| maturity-onset diabetes of the young type 3 | Alliance | MODY, type III | 600496 |
| nonpapillary renal cell carcinoma | Alliance | Renal cell carcinoma | 144700 |
| type 1 diabetes mellitus | Alliance | {Diabetes mellitus, insulin-dependent} | 222100 |
| type 1 diabetes mellitus 20 | Alliance | Diabetes mellitus, insulin-dependent, 20 | 612520 |
| type 2 diabetes mellitus | Alliance | {Diabetes mellitus, noninsulin-dependent, 2} | 125853 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001356 | Homeodomain |
| Domain | IPR006897 | Hepatocyte nuclear factor 1, beta isoform, C-terminal |
| Domain | IPR006898 | Hepatocyte nuclear factor 1, alpha isoform C-terminal |
| Domain | IPR006899 | Hepatocyte nuclear factor 1, N-terminal |
| Domain | IPR044866 | HNF-1, dimerization domain |
| Domain | IPR044869 | HNF-1, POU-specific (POUs) atypical domain |
| Family | IPR039066 | Hepatocyte nuclear factor 1 |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
| Homologous_superfamily | IPR010982 | Lambda repressor-like, DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Hepatocyte nuclear factor 1 | Hepatocyte nuclear factor 1, alpha isoform C-terminal | Hepatocyte nuclear factor 1, beta isoform, C-terminal | Hepatocyte nuclear factor 1, N-terminal | HNF-1, dimerization domain | HNF-1, POU-specific (POUs) atypical domain | Homedomain-like superfamily | Homeodomain | Lambda repressor-like, DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8UVH4
|
560 |
Interactions and Pathways
No data available
Plasmids