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FLASH GENE

Symbol

TFE3

contributors: mct - updated : 13-09-2018

HGNC name	transcription factor binding to IGHM enhancer 3
HGNC id	11752

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	16.75 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	regulated through an E-box

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - DXS1011E - SYP - TFE3 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006521 11 - 3431 NP_006512 61.4 575 - 1991 1685140

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 Digestive intestine small intestine     highly Respiratory lung       highly   respiratory tract larynx     highly Skeleton           Skin/Tegument skin       highly

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoclast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	ubiquitous

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DNA binding protein with basic helix- loop- helix and leucine zipper domains
	myosin tail

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine Mitf
	ortholog to murine Tcfe3
	homolog to C.elegans F15C11.1

intraspecies	homolog to microphtalmia (MITF)
	homolog to TFEB

Homologene

FAMILY	MiT family of basic helix-loop-helix (BHLH) transcription factors
	BHLH-ZIP subfamily
	MiT/TFE family

CATEGORY

regulatory , DNA associated , transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome
text	different subcellular regulation of MITF and TFE3 may be due to the different roles that they play during osteoclast and macrophage differentiation

basic FUNCTION	activator of transcription
	transcriptionally activating hepatic IRS2, participating in insulin signaling and ameliorating diabetes
	endogenous TFE3 and/or TFEB was required for endogenous CDH1 expression in embryonic kidney cells
	TFE3 and TFEB are broadly expressed transcription factors related to the transcription factor MITF
	TFE3 and TFEB are direct, physiological and mutually redundant activators of CD40LG expression in activated CD4(+) T cells critical for T cell-dependent antibody responses
	involved in chromosomal translocations recurrent in different tumors and it plays, redundantly with MITF, an important role in the process of osteoclast formation, in particular during the transition from mono-nucleated to multi-nucleated osteoclasts
	bHLH transcription factor that strongly activates various insulin signaling molecules, protecting against the development of insulin resistance and the metabolic syndrome
	regulates the expression of MAFB during macrophage differentiation
	regulator of mast cell functions
	has a regulatory role in myoblast differentiation, and transcriptional suppression of MYOG expression may be part of the mechanism of action
	transcription factor that binds to E-box motifs and promotes energy metabolism-related genes
	regulates lipid metabolism by controlling the gene expression related to lipolysis and thermogenesis in adipose tissue

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	melanogenesis
	activator of transcription

PATHWAY

metabolism

signaling

a component

dimerization with another BHLH protein

INTERACTION

DNA	binding to IgH enhancer motif muE3 and to a USF/MLTF site

RNA

small molecule

protein	activating of tyrosinase and TYRP1 promoter
	IRS2, HK2 and INSIG1 are direct targets of TFE3
	TFE3 and TFEC proteins may collaborate with MITF to efficiently regulate expression of target genes in osteoclasts
	negatively regulated myogenin promoter activity by direct binding to an E-box, E2, in the MYOG promoter
	directly integrates into the pluripotency circuitry through transcriptional regulation of ESRRB
	directly binds to the insulin receptor substrate-2 promoter in the liver, resulting in increased insulin response
	ASPSCR1-TFE3 fusion protein regulates cell cycle progression and induces cellular senescence by up-regulating CDKN1A expression
	FNIP1 modulates autophagy and energy response pathways in part through the regulation of AMPK, MTOR, and TFE3 in B cell progenitors
	CDK4/CDK6 regulate lysosome biogenesis through TFEB/TFE3
	MTOR specifically controls TFEB and TFE3 cytosolic retention, whereas AMPK is essential for TFEB and TFE3 transcriptional activity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     t(X;1) (p11.2;q21.2) and fused with PRCC in papillary renal cell carcinoma tumoral fusion translocation     t(X;17) (p11.2;q25) and fused with ASPSCR1 in alveolar soft part sarcoma tumoral fusion       with CLTC in t(X;17)(p11.2;q23) in renal adenocarcinoma tumoral fusion       ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC tumoral     --over   in clear cell (conventional) carcinoma and in some cases to papillary renal carcinoma constitutional     --over   during macrophage differentiation tumoral fusion       YAP1-TFE3 fusions in epithelioid hemangioendothelioma tumoral   translocation     with CAMTA1 in Epithelioid hemangioendotheliomas

Susceptibility

Variant & Polymorphism

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

ANIMAL & CELL MODELS

combined inactivation of Tfe3 and Tfeb in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells