HNF1A

Summary: 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameHNF1 homeobox A
OMIM IDMIM:142410
Ensembl IDEnsembl:ENSG00000135100
HGNC IDHGNC:HGNC:11621
PHARMGKB IDPA36380
Map Location12q24.31

Gene Categories:

CLINICALLY ACTIONABLE

GO terms in HNF1A


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IBA GO:0005634 nucleus
CC IDA GO:0005634 nucleus
CC IDA GO:0005737 cytoplasm
CC IDA GO:0032991 protein-containing complex
BP IDA GO:0001779 natural killer cell differentiation
BP IBA GO:0006357 regulation of transcription by RNA polymerase II
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Gene expression in normal tissue: HNF1A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in HNF1A


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Database
Pathway ID
Pathway Des.
wikipathways WP236 Adipogenesis
wikipathways WP2877 Vitamin D Receptor Pathway
wikipathways WP3646 Hepatitis C and Hepatocellular Carcinoma
wikipathways WP3893 Development and heterogeneity of the ILC family
wikipathways WP3931 ESC Pluripotency Pathways
wikipathways WP3971 Role of Osx and miRNAs in tooth development
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD434 BMS-536924 2
iGMDRD105 Triptolide 2
iGMDRD705 Nakiterpiosin 2
iGMDRD289 Parthenolide 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HNF1A

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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