Gene Symbol |
MAFA
|
Entrez Gene |
389692
|
Alt Symbol |
RIPE3b1, hMafA
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
|
Other Description |
pancreatic beta-cell-specific transcriptional activator|transcription factor MafA|transcription factor RIPE3b1
|
Swissprots |
Q8NHW3
|
Accessions |
AAL89527 BAC20389 BAJ04327 Q8NHW3 BC156443 AAI56444 NM_201589 NP_963883
|
Function |
Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b and activates insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic activity. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. {ECO:0000269|PubMed:12011435, ECO:0000269|PubMed:12368292, ECO:0000269|PubMed:15665000, ECO:0000269|PubMed:15993959, ECO:0000269|PubMed:18042454, ECO:0000269|PubMed:19143053}.
|
Subcellular Location |
Nucleus {ECO:0000255|PROSITE- ProRule:PRU00978, ECO:0000269|PubMed:11416124, ECO:0000269|PubMed:12368292}. Note=Detected in nuclei of pancreas islet beta cells. {ECO:0000250}.
|
Top Pathways |
Type II diabetes mellitus, Maturity onset diabetes of the young
|