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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| HNF1 homeobox A | MIM:142410 | Ensembl:ENSG00000135100 | HGNC:HGNC:11621 | PA36380 | 12q24.31 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in HNF1A
| 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 |
| BP | IDA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IMP | GO:0035565 | regulation of pronephros size |
| BP | IMP | GO:0035623 | renal glucose absorption |
| BP | IMP | GO:0042593 | glucose homeostasis |
| BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0046323 | glucose import |
| BP | IGI | GO:0060261 | positive regulation of transcription initiation from RNA polymerase II promoter |
| MF | IBA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISS | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IPI | GO:0046983 | protein dimerization activity |
Gene expression in normal tissue: HNF1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HNF1A
| 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 |
| pid | hnf3bpathway | FOXA2 and FOXA3 transcription factor networks |
| pid | ps1pathway | Presenilin action in Notch and Wnt signaling |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| kegg | hsa04950 | Maturity onset diabetes of the young - Homo sapiens (human) |
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| biocarta | ghpathway | growth hormone signaling pathway |
| biocarta | malpathway | role of mal in rho-mediated activation of srf |
| biocarta | wntpathway | wnt signaling pathway |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-210745 | Regulation of gene expression in beta cells |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD267 | Oligomycin A | 4 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD103 | SN-38 | 4 |
| iGMDRD5 | Tyrphostin AG 1478 | 2 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD662 | JQ-1 | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD116 | CD437 | 1 |
| iGMDRD150 | RITA | 4 |
| iGMDRD330 | BRD4132 | 2 |
| iGMDRD584 | VER 155008 | 2 |
| iGMDRD85 | Ursolic acid | 4 |
| iGMDRD351 | GW843682X | 5 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD52 | Rotenone | 4 |
| iGMDRD226 | ML006 | 2 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD268 | Cerulenin | 1 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD420 | Leucascandrolide A | 4 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD599 | Salermide | 2 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD297 | Austocystin D | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HNF1A
CLASSFICATION
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