NEUROD1
Summary: This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| neuronal differentiation 1 | MIM:601724 | Ensembl:ENSG00000162992 | HGNC:HGNC:7762 | PA31564 | 2q31.3 |
GO terms in NEUROD1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IC | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0090575 | RNA polymerase II transcription factor complex |
| BP | IEA | GO:0003326 | pancreatic A cell fate commitment |
| BP | IEA | GO:0003329 | pancreatic PP cell fate commitment |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0006913 | nucleocytoplasmic transport |
| BP | IDA | GO:0007263 | nitric oxide mediated signal transduction |
| BP | IMP | GO:0009749 | response to glucose |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | ISS | GO:0021542 | dentate gyrus development |
| BP | ISS | GO:0021549 | cerebellum development |
| BP | TAS | GO:0022008 | neurogenesis |
| BP | IEA | GO:0023019 | signal transduction involved in regulation of gene expression |
| BP | IDA | GO:0030073 | insulin secretion |
| BP | ISS | GO:0031018 | endocrine pancreas development |
| BP | TAS | GO:0031018 | endocrine pancreas development |
| BP | ISS | GO:0035881 | amacrine cell differentiation |
| BP | ISS | GO:0035883 | enteroendocrine cell differentiation |
| BP | IEA | GO:0042493 | response to drug |
| BP | ISS | GO:0042593 | glucose homeostasis |
| BP | ISS | GO:0043065 | positive regulation of apoptotic process |
| BP | ISS | GO:0045597 | positive regulation of cell differentiation |
| BP | ISS | GO:0045666 | positive regulation of neuron differentiation |
| BP | ISS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0046426 | negative regulation of JAK-STAT cascade |
| BP | ISS | GO:0048562 | embryonic organ morphogenesis |
| BP | IEA | GO:0048666 | neuron development |
| BP | ISS | GO:0048839 | inner ear development |
| BP | IC | GO:0050796 | regulation of insulin secretion |
| BP | IDA | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | ISS | GO:0060730 | regulation of intestinal epithelial structure maintenance |
| BP | ISS | GO:0071156 | regulation of cell cycle arrest |
| BP | IEA | GO:0071333 | cellular response to glucose stimulus |
| BP | ISS | GO:2000675 | negative regulation of type B pancreatic cell apoptotic process |
| BP | IDA | GO:2000679 | positive regulation of transcription regulatory region 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 | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IPI | GO:0001102 | RNA polymerase II activating transcription factor binding |
| MF | ISS | GO:0003682 | chromatin binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
| MF | IDA | GO:0046982 | protein heterodimerization activity |
| MF | IPI | GO:0046982 | protein heterodimerization activity |
| MF | IDA | GO:0070888 | E-box binding |
Gene expression in normal tissue: NEUROD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NEUROD1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-210745 | Regulation of gene expression in beta cells |
| reactome | R-HSA-210746 | Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells |
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| kegg | hsa04950 | Maturity onset diabetes of the young - Homo sapiens (human) |
| wikipathways | WP2855 | Dopaminergic Neurogenesis |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NEUROD1
CLASSFICATION
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