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MTM1

GENERAL INFORMATION

Gene name

 MTM1

Gene description

 Myotubularin 1

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissue.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA010008 , HPA010665
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 MTM1

Synonyms

Description

 Myotubularin 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 X

Cytoband

 q28

Chromosome location (bp)

 150568619 - 150673322

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000171100 (version 83.38)

Entrez gene

 4534

UniProt

 Q13496 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13496

Antibodypedia

 MTM1 antibodies

PROTEIN BROWSER
MTM1-002
MTM1-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MTM1-002
ENSP00000359423
ENST00000370396
Q13496 [Direct mapping]
Myotubularin
A0A024RC06 [Target identity:100%; Query identity:100%]
Myotubularin 1, isoform CRA_a
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0001726 [ruffle]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004721 [phosphoprotein phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005770 [late endosome]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006470 [protein dephosphorylation]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0008333 [endosome to lysosome transport]
GO:0015031 [protein transport]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0019215 [intermediate filament binding]
GO:0030175 [filopodium]
GO:0031674 [I band]
GO:0035091 [phosphatidylinositol binding]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044088 [regulation of vacuole organization]
GO:0044281 [small molecule metabolic process]
GO:0045109 [intermediate filament organization]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0048311 [mitochondrion distribution]
GO:0052629 [phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity]
GO:0070062 [extracellular exosome]
GO:0070584 [mitochondrion morphogenesis]
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 603 aa
69.9 kDa 		No 0
MTM1-005
ENSP00000400699
ENST00000424519
C9J2A2 [Direct mapping]
Myotubularin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 103 aa
11.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.