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FLASH GENE

Symbol

MTM1

contributors: mct/npt - updated : 18-04-2017

HGNC name	myotubularin 1
HGNC id	7448

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	104.57 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - 4599 isoform 2 - 701 - 2013 22968136 NM_000252 15 - 3452 NP_000243 - 603 widely 2013 22968136 variant 4 - - 2600 isoform 4 - - skeletal muscle 2013 22968136 variant 3 - - 4600 isoform 3 - 424 skeletal muscle, testis 2013 22968136 overlapping ORF

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 liver       highly Endocrine thyroid       highly Respiratory respiratory tract trachea     highly Urinary bladder       highly

cell lineage

cell lines

fluid/secretion

at STAGE

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal catalytic domain to the active site of tyrosine phosphatases
	a SET domain multifunctional chromatin regulator (130AA)

HOMOLOGY

interspecies	homolog to yeast,highly conserved
	homolog to C.elegans

Homologene

FAMILY	protein-tyrosine phosphatase family
	non-receptor class myotubularin subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	putatively involved in signal transduction
	protein tyrosine phospholase, dephosphorylating the lipid messenger phosphatidylinositol-3-phosphate
	regulator of membrane traffic and in particular the movements of vesicles between endosomal compartments (Dowling 2009)
	MTM1 roles in the structural organization of muscle fibers that are independent of its enzymatic activity
	direct function of MTM1 enzymatic activity in SR remodeling and a key role for PIKFYVE in promoting sarcoplasmic reticulum (SR) membrane curvature in skeletal muscle
	enhances BIN1-mediated membrane tubulation, depending on binding and phosphoinositide phosphatase activity

CELLULAR PROCESS

protein, post translation

PHYSIOLOGICAL PROCESS

development

text	muscle developpment

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	SET domain of HRX
	major regulator of both the desmin cytoskeleton and mitochondria homeostasis, specifically in skeletal muscle
	MTM1 is a novel binding partner of BIN1, endogenously in skeletal muscle
	SPEG was identified as an MTM1-interacting protein

cell & other

REGULATION

Other

PI3P : down regulating of phosphatidylinositol 3 kinase and degrading PI3P

ASSOCIATED DISORDERS

corresponding disease(s)

MTM1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

muscle fibers from MTM1-deficient mice present defects in excitation-contraction (EC) coupling likely responsible for the disease-associated fatal muscle weakness