help  | about  | cite  | software

Gene : HNF1A Homo sapiens

Name  ? HNF1 homeobox A Cytological Location  12q24.31
Brief Description  HNF1 homeobox A
Description  The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
  • synonyms:
  • transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor,
  • TCF1,
  • TCF1,
  • IDDM20,
  • HNF1,
  • LFB1,
  • MODY3,
  • HNF1,
  • HNF4A,
  • uc001tzg.4,
  • HGNC:11621,
  • NM_000545,
  • HNF-1A,
  • MODY3,
  • OTTHUMG00000151015,
  • HNF1A,
  • M57732,
  • TCF-1,
  • LFB1
  • identifiers:
  • 6927,
  • ENSG00000135100,
  • HNF1A

Genome feature

Region: gene ? Length: 24830  
Location: 12:120977683-121002512 Cyto location: 12q24.31


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

6 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

8 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results