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FLASH GENE

Symbol

MAFA

contributors: mct/npt - updated : 19-03-2017

HGNC name	v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)
HGNC id	23145

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_201589 1 - 2373 NP_963883 36.8 353 - 2008 1852293

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal domain of MAFA plays a major role in MAPK14-mediated degradation

conjugated

sumoylated

HOMOLOGY

interspecies	homolog to murine LOC239540
	homolog to rattus LOC366949
	homolog to zebrafish Mafl

Homologene

FAMILY	bZIP family
	Maf subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	plays a key role in coordinating and controlling the level of insulin gene expression in islet beta cells (Zhao 2005)
	isolated beta-cell-specific transcription factor that functions as a potent activator of insulin gene transcription (Kaneto 2008)
	playing a critical role in islet beta-cell function (Matsuoka 2007)
	with MAFB regulate PDX1 transcription in pancreatic beta cells (Vanhoose 2008)
	should be used to enhance maturation, rather than specification, of beta-cells from stem/progenitor cells
	MAFA and MAFB regulate genes critical to beta-cells in a unique temporal manner
	transcription factor that functions as a beta cell differentiation factor during development and a beta cell function-maintaining factor in adult life
	basic-leucine zipper transcription factor that is important to pancreatic beta-cell function, is regulated by several intricate mechanism
	MAFA, PDX1 and NEUROG3 (an upstream regulator of Beta2/NEUROD1) leads to the effective reprogramming of acinar cells into insulin-producing beta cells
	key regulator of insulin gene expression and maturation of islet beta cell
	PDX1, NEUROG3 and MAFA, are very important in pancreatic development
	essential transcriptional regulator of islet beta-cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	MAPK14 is a major regulator of MAFA protein stability under oxidative stress
	HNF1A regulates MAFA in beta-cells, suggesting that compromised MAFA expression contributes to beta-cell dysfunction in maturity onset diabetes of the young
	ATF2 interacts with beta-cell-enriched transcription factors, MAFA, PDX1, and NEUROD1, and activates insulin gene transcription
	key role of PPARG in regulating pancreatic beta-cell function by improving the stability of PDX1 and MAFA proteins
	ONECUT1 is a negative regulator of MAFA gene expression
	ZBED6 binding to the MAFA gene was found in myoblasts, but was not presently observed in human islet cells
	KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
	KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
	NRDC controls beta-cell function via regulation of the ISL1-MAFA pathway

cell & other

REGULATION

Other

SUMOylation is a functional post-translational modification of MAFA that negatively regulates its transcriptional and transforming activities

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function with PDX1 in diabetic patient in beta-cells (leads to suppression of insulin biosynthesis and secretion) (Kaneto 2008) constitutional     --low   markedly decreased in type 2 diabetes, which may contribute to impaired beta cell dysfunction

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     could be a novel therapeutic target for diabetes

ANIMAL & CELL MODELS

MafA-deficient mice have a normal proportion of insulin+ cells at birth but develop diabetes gradually with age