MTM1

Protein identityUniProt · HPA

UniProt accession

Q13496

Gene

MTM1

Ensembl

ENSG00000171100

Chromosome

X

Canonical length

603 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

603 residues, UniProt reviewed canonical sequence.

>Q13496|MTM1
     1  MASASTSKYN SHSLENESIK RTSRDGVNRD LTEAVPRLPG ETLITDKEVI YICPFNGPIK
    61  GRVYITNYRL YLRSLETDSS LILDVPLGVI SRIEKMGGAT SRGENSYGLD ITCKDMRNLR
   121  FALKQEGHSR RDMFEILTRY AFPLAHSLPL FAFLNEEKFN VDGWTVYNPV EEYRRQGLPN
   181  HHWRITFINK CYELCDTYPA LLVVPYRASD DDLRRVATFR SRNRIPVLSW IHPENKTVIV
   241  RCSQPLVGMS GKRNKDDEKY LDVIRETNKQ ISKLTIYDAR PSVNAVANKA TGGGYESDDA
   301  YHNAELFFLD IHNIHVMRES LKKVKDIVYP NVEESHWLSS LESTHWLEHI KLVLTGAIQV
   361  ADKVSSGKSS VLVHCSDGWD RTAQLTSLAM LMLDSFYRSI EGFEILVQKE WISFGHKFAS
   421  RIGHGDKNHT DADRSPIFLQ FIDCVWQMSK QFPTAFEFNE QFLIIILDHL YSCRFGTFLF
   481  NCESARERQK VTERTVSLWS LINSNKEKFK NPFYTKEINR VLYPVASMRH LELWVNYYIR
   541  WNPRIKQQQP NPVEQRYMEL LALRDEYIKR LEELQLANSA KLSDPPTSPS SPSQMMPHVQ
   601  THF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTM1.

Disease | AllUniProt

Conditions MTM1 is implicated in, by any mechanism.

• Myopathy, centronuclear, X-linked (CNMX) MIM:310400

Disease | GeneticClinVar

269 pathogenic / likely-pathogenic of 934 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Severe X-linked myotubular myopathy
• Centronuclear myopathy
• MTM1-related disorder
• Nonpapillary renal cell carcinoma
• Thyroid cancer, nonmedullary, 1

Disease | ImmuneIEDB

Conditions an epitope on MTM1 was assayed in.

• collecting duct carcinoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.18

gnomAD pLI

1

gnomAD missense Z

2.4

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• autophagosome assembly
• endosome to lysosome transport
• intermediate filament organization
• mitochondrion distribution
• mitochondrion organization
• muscle cell cellular homeostasis
• negative regulation of autophagosome assembly
• negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
• negative regulation of proteasomal ubiquitin-dependent protein catabolic process
• negative regulation of TOR signaling
• phosphatidylinositol 3-kinase/protein kinase B signal transduction
• phosphatidylinositol biosynthetic process
• phosphatidylinositol dephosphorylation
• positive regulation of skeletal muscle tissue growth
• proteasome-mediated ubiquitin-dependent protein catabolic process
• protein dephosphorylation
• protein transport
• skeletal muscle tissue growth
• TOR signaling
• regulation of vacuole organization

Molecular functions

• intermediate filament binding
• phosphatidylinositol binding
• phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
• phosphatidylinositol-3-phosphate phosphatase activity
• phosphoprotein phosphatase activity

Cellular components

• cytoplasm
• cytosol
• filopodium
• I band
• late endosome
• membrane
• plasma membrane
• ruffle

Protein domainsUniProt · Pfam · InterPro

• Tyrosine-specific protein phosphatases domain
• Protein-tyrosine phosphatase, catalytic
• GRAM domain
• Myotubularin-like, phosphatase domain
• PH-like domain superfamily
• Protein-tyrosine phosphatase, active site
• Protein-tyrosine phosphatase-like
• Myotubularin
• GRAM domain
• Myotubularin-like phosphatase domain

KeywordsUniProt

• Cell membrane
• Cell projection
• Cytoplasm
• Endosome
• Hydrolase
• Lipid metabolism
• Membrane
• Phosphoprotein
• Protein phosphatase
• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of MTM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DES
• SPEG
• BIN1