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FLASH GENE

Symbol

MAF

contributors: mct - updated : 19-04-2015

HGNC name	v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
HGNC id	6776

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AXR2 Axenfeld-Rieger malformation 2 CCA4 cataract, congenital, cerulean type 4 CCDDL congenital cataracts, sensorineural deafness, Down -like facial appearance CCMC congenital cataract - microcornea CDOC pulverulent cataract, ocular anterior segment dysgenesis
Location	16q23.2      Physical location : 79.627.745 - 79.634.622
Synonym name	avian musculoaponeurotic fibrosarcoma protooncogene
	T lymphocyte c-maf long form
Synonym symbol(s)	MGC71685, c-MAF

DNA

TYPE	functioning gene
STRUCTURE	6.88 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005360 2 splicing 2656 42 403 - 1998 9566892 NM_001031804 1 splicing 6887 38.5 373 - 1998 9566892 only one exon

EXPRESSION

Type	ubiquitous

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 blood / hematopoietic spleen       highly Cardiovascular heart       highly Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Respiratory lung       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	lens placode and vesicles primary lens fibers

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal basic leucine zipper (bZip) domain
	His/Gly repeats domain
	P/S/T-rich acidic domain
	DNA-binding domain containing a highly conserved extended homology region (EHR) that allows to recognize longer DNA sequences than other basic leucine zipper (bZIP) transcription factors

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies

homolog to avian musculoaponeurotic fibrosarcoma (v-maf) oncogene

Homologene

FAMILY

MAF family, activator protein 1 (AP-1) superfamily of transcription factors

CATEGORY

DNA associated , transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in the lens development and in the regulation of expression of eye lens cristallins
	may be important in chondrocyte hypertrophy and terminal differentiation, and may be involved in the pathogenesis of osteoarthritis
	required for the F4/80 expression in macrophages
	implicated in transcriptional regulation of MMP13
	can significantly enhance MMP13 promoter activity via the AP-1 site
	cellular counterpart of v-maf oncogene, that is a potent transactivator of the IL4 gene in Th2 cells
	essential for the induction of IL10 by Tr1 (Type 1 regulatory T cells)
	critical for glucagon gene transcription and alpha cell differentiation
	act as key regulator of terminal differentiation in many tissues and organs, including bone, brain, kidney, lens, pancreas, and retina
	is crucial for mechanosensory function
	its ubiquitination is mediated by multiple lysine residues, of which K85 and K350 were sufficient but not the only residues in mediating MAF ubiquitination

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with MYB (modulation of MYB activity may be an important mechanism for the control of gene transcription during hematopoietic cell development)
	may be transcriptional regulator of GPX3 expression and modulate the antioxidative pathway in the kidney
	can interact with UBE2I and PIAS1, two key enzymes of the SUMOylation pathway
	interacting with PAX6 (binds directly and activates the promoter region of MAFB, MAF, and NEUROD1 genes in pancreatic alpha cells)
	AHR acted in synergy with MAF to promote the development of Tr1 cells
	MAT2A serves as a transcriptional corepressor of MAF oncoprotein
	role of posttranslational modification of MAF in IL4 production and Th cell-mediated autoimmune diseases
	TP53 directly regulates MAF and PROX1, two important transcription factors controlling differentiation in the ocular lens
	KLF13 cooperates with MAF to regulate IL4 expression in CD4+ T cells
	SOX5 and MAF cooperatively induce Th17 cell differentiation via the induction of RORC as downstream targets of STAT3

cell & other

REGULATION

Other	SUMOylation of MAF attenuated its transcriptional activity, and SUMOylation at lysine-33 is a functionally critical post-translational modification event of MAF in Th cells
	could be polyubiquitinated and subsequently degraded in the proteasomes

ASSOCIATED DISORDERS

corresponding disease(s)

AXR2 , CDOC , CCA4 , CCMC , CCDDL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   dysregulated by translocation t(14;16)(q32;q23) to an Ig locus in multiple myelomas tumoral     --over   in hairy cell leukemia and in a significant proportion of T-cell and NK/T-cell lymphomas constitutional     --over   in osteoarthritic cartilage compared with normal cartilage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS