AlphaFold predicted structure
HNF1A · P20823
Mean pLDDT
57.0/ 100
Low
631 residues
Confidence breakdown
- Very high(≥ 90)21%
- Confident(70–90)11%
- Low(50–70)7%
- Very low(< 50)62%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
HNF1A
Chr 12q24.31HNF1 homeobox A
- Aliases:
- HNF1, LFB1, HNF1α
- MANE:
- ENST00000257555.11
Annotations refreshed 12 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDiabetes with additional phenotypes suggestive of a monogenic aetiology
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMulti-organ autoimmune diabetes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
MODY
0.84type 2 diabetes mellitus
0.78diabetes mellitus
0.73maturity-onset diabetes of the young type 3
0.72type 1 diabetes mellitus
0.69monogenic diabetes
0.68maturity-onset diabetes of the young
0.61coronary artery disorder
0.58cholelithiasis
0.56nonpapillary renal cell carcinoma
0.56
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hepatocyte nuclear factor 1-alpha
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity)
Diseases associated with HNF1A
Curated MONDO disease pages that list HNF1A among their top associated genes.