Recombinant Human Transcription factor MafA (MAFA)

1. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p.Ser64Phe, c.191C>T) segregating with both phenotypes of insulinomatosis and diabetes. PMID: 29339498
2. PDX1, Neurogenin-3, and MAFA are critical transcription regulators for beta cell development and regeneration. (Review) PMID: 29096722
3. USP5 regulates c-Maf stability and multiple myeloma cell survival. PMID: 28933784
4. Pdx1 and MafA play crucial roles in the pancreas and maintain mature beta-cell function. Our results showed that the expression of Pdx1 and MafA were significantly upregulated after a sleeve gastrectomy for morbid obesity. PMID: 26781599
5. MAFA controls autonomic nervous system-mediated insulin secretion by activating the transcription of nicotinic (ChrnB2 and ChrnB4) receptor genes, which is impaired in patients with type 2 diabetes. PMID: 26904947
6. These findings demonstrate that regulation of monoamine levels by Mao activity in beta cells is pivotal for physiological insulin secretion and that loss of MaoB expression may contribute to the beta cell dysfunction in type 2 diabetes. PMID: 26546820
7. MAFA, MAFB, NKX6.1, and PDX1 activity provides a gauge of islet beta cell function, with loss of MAFA (and/or MAFB) representing an early indicator of beta cell inactivity PMID: 23863625
8. Loss of MAFA expression is associated with insulinoma. PMID: 24157940
9. MAFA nuclear expression in pancreatic alpha and beta cells, and the percentage of alpha cells expressing PAX4 are altered in patients with type 2 diabetes. PMID: 24013263
10. under oxidative and nonoxidative conditions p38 MAPK directly binds to MafA and triggers MafA degradation via ubiquitin proteasomal pathway. PMID: 23660596
11. Beta cell nuclear MafA is markedly decreased in humans with type 2 diabetes, which may contribute to impaired beta cell dysfunction. PMID: 22847061
12. Combined transfection of the three transcriptional factors, PDX-1, NeuroD1, and MafA, causes differentiation of bone marrow mesenchymal stem cells into insulin-producing cells PMID: 22761608
13. Data suggest that MafA plays a novel role in the reprogramming of stem cells into pancreatic beta-progenitors, promotes the islet-like characteristics of PDMSCs, as well as functionally regulation of blood glucose levels in transplanted grafts. PMID: 20158571
14. ATF2 interacts with beta-cell-enriched transcription factors, MafA, Pdx1, and beta2, and activates insulin gene transcription. PMID: 21278380
15. MafA transcription is upregulated in beta-cells acutely cultured in high glucose similar to what may occur in vivo under normoglycemic conditions. PMID: 21278484
16. a novel relationship between the phosphoamino acid-rich transactivation and b-Zip domains in controlling MafA DNA-binding activity. PMID: 20208071
17. In addition to its expression in pancreatic beta cells, MafA also identifies the early ret-expressing sensory neurons in the dorsal root ganglia. PMID: 20213756
18. gene is unlikely to have a significant role in monogenic diabetes in humans PMID: 19573128
19. MafA selectively induces endogenous insulin transcription in non-beta cells PMID: 14973194
20. mafA has a role in regulating insulin gene expression in the liver PMID: 15664997
21. MafA plays a key role in coordinating and controlling the level of insulin gene expression in islet beta cells. PMID: 15665000
22. Co-expression and functional synergism of these beta-cell enriched transactivators, MafA, Pdx1, and Beta2, are critical for establishing the beta-cell-specific and efficient expression of the insulin gene. PMID: 15993959
23. Data show that FoxA2, Nkx2.2, and PDX-1 regulate islet beta-cell-specific mafA expression through conserved sequences located between base pairs -8118 and -7750 upstream from the transcription start site. PMID: 16847327
24. MafA has a critical role in islet beta-cell function PMID: 17636040
25. Under diabetic conditions, expression and/or activities of PDX-1 and MafA in beta-cells are reduced [REVIEW]. PMID: 18508668
26. Significance of large Maf proteins to Pdx1 expression in beta cells, and in particular MafB during pancreatic development. PMID: 18522939
27. Data suggest that a group of transcription factors, including MafA and Foxa2, regulate expression of two major autoantigens in type 1 diabetes, including islet-specific glucose-6-phosphatase catalytic subunit-related protein. PMID: 18753309
28. MafA levels are tightly controlled by the coordinated action of multiple kinase pathways PMID: 18948074
29. MafA plays a crucial role in pancreatic beta-cells and could be a novel therapeutic target for diabetes PMID: 19393272
30. p38 MAPK is a major regulator of MafA protein stability under oxidative stress PMID: 19407223
31. Transcriptional and transforming activities of MafA are positively regulated by GSK-3-mediated phosphorylation. PMID: 18042454

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HGNC: 23145

OMIM: 610303

KEGG: hsa:389692

STRING: 9606.ENSP00000328364

UniGene: Hs.521914