HNF1B
Summary: This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| HNF1 homeobox B | MIM:189907 | Ensembl:ENSG00000275410 | HGNC:HGNC:11630 | PA162391083 | 17q12 |
GO terms in HNF1B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| 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 | IEA | GO:0000987 | proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IEA | GO:0003705 | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0044877 | protein-containing complex binding |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001714 | endodermal cell fate specification |
| BP | IDA | GO:0001822 | kidney development |
| BP | IMP | GO:0001822 | kidney development |
| BP | IEA | GO:0001826 | inner cell mass cell differentiation |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0007219 | Notch signaling pathway |
| BP | IEA | GO:0009749 | response to glucose |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IEA | GO:0014070 | response to organic cyclic compound |
| BP | IEA | GO:0030073 | insulin secretion |
| BP | IEA | GO:0030111 | regulation of Wnt signaling pathway |
| BP | IEA | GO:0030902 | hindbrain development |
| BP | IEA | GO:0032922 | circadian regulation of gene expression |
| BP | IMP | GO:0035565 | regulation of pronephros size |
| BP | IGI | GO:0039020 | pronephric nephron tubule development |
| BP | IEA | GO:0042493 | response to drug |
| BP | IEA | GO:0042663 | regulation of endodermal cell fate specification |
| BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IEA | GO:0048557 | embryonic digestive tract morphogenesis |
| BP | IEA | GO:0048754 | branching morphogenesis of an epithelial tube |
| BP | IMP | GO:0048793 | pronephros development |
| BP | IEA | GO:0050673 | epithelial cell proliferation |
| BP | IDA | GO:0060261 | positive regulation of transcription initiation from RNA polymerase II promoter |
| BP | IEA | GO:0060677 | ureteric bud elongation |
| BP | IEA | GO:0061017 | hepatoblast differentiation |
| BP | IEA | GO:0061296 | negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis |
| BP | IEA | GO:0065004 | protein-DNA complex assembly |
| BP | IEA | GO:0070365 | hepatocyte differentiation |
| BP | IEA | GO:0072095 | regulation of branch elongation involved in ureteric bud branching |
| BP | IEA | GO:0072181 | mesonephric duct formation |
| BP | IEA | GO:1900212 | negative regulation of mesenchymal cell apoptotic process involved in metanephros development |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005667 | transcription factor complex |
Gene expression in normal tissue: HNF1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HNF1B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2853 | Endoderm Differentiation |
| kegg | hsa04950 | Maturity onset diabetes of the young - Homo sapiens (human) |
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-210744 | Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells |
| reactome | R-HSA-210747 | Regulation of gene expression in early pancreatic precursor cells |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD945 | ML214 | 2 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 3 |
| iGMDRD701 | NVP-AUY922 | 1 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD405 | PIK-75 | 1 |
| iGMDRD523 | Cyanoquinoline, 11 | 5 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD872 | BRD7137 | 7 |
| iGMDRD367 | Ro 28-1675 | 5 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD782 | DC-45-A2 | 6 |
| iGMDRD6 | AM-580 | 5 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD105 | Triptolide | 1 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD267 | Oligomycin A | 8 |
| iGMDRD441 | TW 37 | 4 |
| iGMDRD68 | Paclitaxel | 2 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD271 | Brefeldin A | 1 |
| iGMDRD103 | SN-38 | 1 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD802 | 4-methylfasudil | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HNF1B
CLASSFICATION
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