MAFA
Summary: MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| MAF bZIP transcription factor A | MIM:610303 | Ensembl:ENSG00000182759 | HGNC:HGNC:23145 | PA134963361 | 8q24.3 |
GO terms in MAFA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0000978 | RNA polymerase II proximal promoter 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 | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | TAS | GO:0042803 | protein homodimerization activity |
| MF | NAS | GO:0046982 | protein heterodimerization activity |
| BP | TAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IDA | GO:0007263 | nitric oxide mediated signal transduction |
| BP | IDA | GO:0009749 | response to glucose |
| BP | IDA | GO:0030073 | insulin secretion |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| CC | IDA | GO:0005634 | nucleus |
Gene expression in normal tissue: MAFA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MAFA
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| pharmgkb | PA165985892 | Tacrolimus/Cyclosporine Pathway, Pharmacodynamics |
| kegg | hsa04930 | Type II diabetes mellitus - Homo sapiens (human) |
| kegg | hsa04950 | Maturity onset diabetes of the young - Homo sapiens (human) |
| wikipathways | WP1584 | Type II diabetes mellitus |
| 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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MAFA
CLASSFICATION
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