Gene
hnf1bb
- ID
- ZDB-GENE-030131-3003
- Name
- HNF1 homeobox Bb
- Symbol
- hnf1bb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in anterior/posterior pattern specification involved in pronephros development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in kidney disease; maturity-onset diabetes of the young type 5; pancreas disease; renal cell carcinoma; and type 2 diabetes mellitus. Is expressed in intermediate mesoderm; pronephros; and rhombomere 5. Orthologous to human HNF1B (HNF1 homeobox B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| maturity-onset diabetes of the young type 5 | Alliance | Renal cysts and diabetes syndrome | 137920 |
| nonpapillary renal cell carcinoma | Alliance | {Renal cell carcinoma} | 144700 |
| type 2 diabetes mellitus | Alliance | Type 2 diabetes mellitus | 125853 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001356 | Homeodomain |
| Domain | IPR006897 | Hepatocyte nuclear factor 1, beta 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 |
| Homologous_superfamily | IPR023219 | Hepatocyte nuclear factor 1, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | Hepatocyte nuclear factor 1 | Hepatocyte nuclear factor 1, beta isoform, C-terminal | Hepatocyte nuclear factor 1, N-terminal | Hepatocyte nuclear factor 1, N-terminal domain superfamily | HNF-1, dimerization domain | HNF-1, POU-specific (POUs) atypical domain | Homedomain-like superfamily | Homeodomain | Lambda repressor-like, DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8UW00
|
532 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hnf1bb-201
(1)
|
Ensembl | 1,439 nt | ||
| mRNA |
hnf1bb-202
(1)
|
Ensembl | 4,162 nt |
Interactions and Pathways
No data available
Plasmids
No data available