MAFA (gene)

MAFA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4EOT
Identifiers
Aliases	MAFA, RIPE3b1, hMafA, MAF bZIP transcription factor A, INSDM
External IDs	OMIM: 610303; MGI: 2673307; HomoloGene: 65867; GeneCards: MAFA; OMA:MAFA - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	143,430,732 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	75,620,077 bp
RNA expression pattern
	Top expressed in
	muscle of thigh; ; gastrocnemius muscle; ; skeletal muscle tissue; ; gonad; ; islet of Langerhans; ; testicle; ; right testis; ; left testis; ; body of pancreas; ; placenta;
	Top expressed in
	islet of Langerhans; ; vastus lateralis muscle; ; triceps brachii muscle; ; sternocleidomastoid muscle; ; temporal muscle; ; ankle; ; gastrocnemius muscle; ; tibialis anterior muscle; ; muscle of thigh; ; digastric muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription factor activity; protein heterodimerization activity; DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein homodimerization activity; DNA-binding transcription factor activity, RNA polymerase II-specific; sequence-specific DNA binding;
Cellular component	nucleus;
Biological process	regulation of transcription, DNA-templated; response to glucose; insulin secretion; transcription by RNA polymerase II; positive regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated; nitric oxide mediated signal transduction; transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	389692
	378435
	ENSG00000182759
	ENSMUSG00000047591
	Q8NHW3
	Q8CF90
	NM_201589
	NM_194350
	NP_963883
	NP_919331
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor MafA is a protein that in humans is encoded by the MAFA gene. It is a member of the Maf family of transcription factors.

MAFA is phosphorylated sequentially on four serine/threonine residues by GSK-3 kinase. These phosphorylations activate MAFA transcription and trigger its degradation in the proteasome. Altering these post-translationnal modifications leads to severe pathological consequences. Mutation of these residues is perinatally lethal in mice, and mutation of the Ser64Phe priming site was reported to induce familial diabetes mellitus and insulinomatosis in humans.