MTM1

MTM1
Identifiers
Aliases	MTM1, CNM, MTMX, XLMTM, Myotubularin 1
External IDs	MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1
Gene location (Human) Chr. X chromosome (human) Band n/a Start 150,568,619 bp End 150,673,322 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band n/a Start 71,210,767 bp End 71,315,691 bp
Gene ontology Molecular function • phosphoprotein phosphatase activity • intermediate filament binding • phosphatase activity • protein binding • phosphatidylinositol binding • protein tyrosine phosphatase activity • hydrolase activity • phosphatidylinositol-3-phosphatase activity • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component • cytoplasm • endosome • late endosome • cell projection • membrane • I band • filopodium • ruffle • plasma • extracellular exosome • cytosol Biological process • negative regulation of autophagosome assembly • intermediate filament organization • negative regulation of protein kinase B signaling • muscle cell cellular homeostasis • endosome to lysosome transport • lipid metabolic process • protein dephosphorylation • regulation of vacuole organization • negative regulation of TOR signaling • phosphatidylinositol dephosphorylation • mitochondrion distribution • negative regulation of proteasomal ubiquitin-dependent protein catabolic process • protein transport • phosphatidylinositol biosynthetic process • peptidyl-tyrosine dephosphorylation • mitochondrion morphogenesis • positive regulation of skeletal muscle tissue growth • dephosphorylation • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4534	17772
Ensembl	ENSG00000171100	ENSMUSG00000031337
UniProt	Q13496	Q9Z2C5
RefSeq (mRNA)	NM_000252	NM_001164190 NM_001164191 NM_001164192 NM_001164193 NM_019926
RefSeq (protein)	NP_000243	NP_001157662 NP_001157663 NP_001157664 NP_001157665 NP_064310
Location (UCSC)	Chr X: 150.57 – 150.67 Mb	Chr X: 71.21 – 71.32 Mb
PubMed search

4534

17772

ENSG00000171100

ENSMUSG00000031337

Q13496

Q9Z2C5

NM_000252

NM_001164190
NM_001164191
NM_001164192
NM_001164193
NM_019926

NP_000243

NP_001157662
NP_001157663
NP_001157664
NP_001157665
NP_064310

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

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Wikipedia