HNF1A
Sign in to saveAlso known as HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1, HNF1 homeobox A
HNF1 homeobox A (hepatocyte nuclear factor 1 homeobox A), also known as HNF1A, is a human gene on chromosome 12. It is ubiquitously expressed in many tissues and cell types. The protein encoded by this gene is a transcription factor that is highly expressed in the liver and is involved in the regulation of the expression of several liver-specific genes. Mutations in the HNF1A gene have been known to cause diabetes. The HNF1A gene also contains a SNP associated with increased risk of coronary artery disease.
Gene data
HNF1A- Name
- HNF1 homeobox A
- Type
- protein-coding
- Position
- 120,978,543–121,002,512 (+)
- Aliases
- HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, IDDM20, LFB1, MODY3, TCF-1, TCF1
- Ensembl
- ENSG00000135100
- RefSeq RNA
- NM_000545.8, NM_001306179.2, NM_001406915.1, XM_024449168.2, XM_054373106.1
- RefSeq protein
- NP_000536.6, NP_001293108.2, NP_001393844.1, XP_024304936.1, XP_054229081.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
HNF1 homeobox A
- Symbol
- HNF1A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:120,978,543-121,002,512
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein TCF1 PDB 1ic8.png
Show 5 more facts
- HomoloGene ID
- 459
- exact match
- identifiers.org/ncbigene/6927
- genomic start
- 121416346
- genomic end
- 121440315
- cytogenetic location
- 12q24.31
via Wikidata · CC0
~6 min read
Article
10 sectionsContents
- Structure
- Gene
- Protein
- Function
- Clinical significance
- Clinical marker
- Interactions
- See also
- References
- Further reading
HNF1 homeobox A (hepatocyte nuclear factor 1 homeobox A), also known as HNF1A, is a human gene on chromosome 12. It is ubiquitously expressed in many tissues and cell types. The protein encoded by this gene is a transcription factor that is highly expressed in the liver and is involved in the regulation of the expression of several liver-specific genes. Mutations in the HNF1A gene have been known to cause diabetes. The HNF1A gene also contains a SNP associated with increased risk of coronary artery disease.
== Structure ==