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FLASH GENE

Symbol

MAFB

contributors: npt/mct/pgu - updated : 21-03-3015

HGNC name	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
HGNC id	6408

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.36 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	TFE3-binding site (EBox) in the MAFB promoter region that is conserved in different mammalian species

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed MAFB 1 - 3378 35.8 323 - 1999 9491317

EXPRESSION

Type

widely

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 Digestive mouth       highly Endocrine pancreas       highly Homo sapiens Lymphoid/Immune spleen       highly

cells

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	Pro-Ser-Thr domain,histidine repeat, extended homology region
	basic and leucine zipper domain

conjugated

sumoylated

HOMOLOGY

interspecies

homolog to murine Kreisler maf-related leucine zipper

Homologene

FAMILY	bZIP family
	Maf subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional regulator of lineage specific hematopoiesis by repressing ETS1 mediated transcription of erythoid-specific gene in myeloid cells
	regulator of hindbrain segmentation and interacts with the ICD of LRP1 through a leucine zipper domain
	with MAFA regulate PDX1 transcription in pancreatic beta cells
	plays a pivotal role in regulating lineage-specific hematopoiesis by repressing transcription of erythroid specific genes in myeloid cells and enhancing expression of macrophage and megakaryocytic genes (
	specifically restricts the ability of CSF1 to instruct myeloid commitment divisions in hematopoietic stem cell
	required for proper hindbrain segmentation and regulates other transcription factors involved in hindbrain patterning
	critical for glucagon gene transcription and alpha cell differentiation
	produced in a larger fraction of beta-cells than MAFA during development and regulate potential effectors of glucose sensing, hormone processing, vesicle formation, and insulin secretion
	is one of the earliest direct targets of CDX1 and CDX1 plays a direct role in early hindbrain patterning
	transcription factor that negatively regulates TNFSF11-induced osteoclastogenesis and is essential for normal renal development
	KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	central nervous system and sensory organ development (hearing)

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	SUMO modification of MAFB affects the balance between myeloid progenitor expansion and terminal macrophage differentiation by controlling MAFB transactivation capacity and susceptibility to MYB repression
	interacting with PAX6 (binds directly and activates the promoter region of MAFB, MAF, and NEUROD1 genes in pancreatic alpha cells)
	is one of the earliest direct targets of CDX1 and CDX1 plays a direct role in early hindbrain patterning
	interacts with GCM2 and regulates parathyroid hormone expression and parathyroid development
	GATA3 interacted with GCM2 and MAFB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter
	MAFB is a negative regulator of CSF2 signaling in microglia
	MAFB, which is important to beta-cell formation and coproduced with MAFA in adult pancreatic islet beta-cells, bound KMT2D and KMT2C complexes

cell & other

REGULATION

Other

MTOR regulates osteoclast formation by modulating the CEBPB isoform ratio, which in turn affects osteoclastogenesis by regulating MAFB expression

ASSOCIATED DISORDERS

corresponding disease(s)

MCTO , DURS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     in myeloid leukemia tumoral   translocation     specific marker for the prognostic unfavorable t(14;20) (q32;q12) in multiple myeloma patients )

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in mafB(-/-) mice, the parathyroid did not separate from the thymus, and PTH expression and secretion were impaired