Gene

hnf1a

ID
ZDB-GENE-021206-12
Name
HNF1 homeobox a
Symbol
hnf1a Nomenclature History
Previous Names
  • hnf1-a (1)
  • tcf1 (1)
  • af244934-22s
  • xx:af244934-22s
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
Expression
All Expression Data
6 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from O'Hare et al., 2016
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hnf1a Human Ortholog
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
Associated With hnf1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001356 Homeobox domain
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 Homeobox-like domain 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 Homeobox domain Homeobox-like domain superfamily Lambda repressor-like, DNA-binding domain superfamily
UniProtKB:Q8UVH4 560
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations