MTM1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues at variable levels.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA010008 , HPA010665
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

4534

UniProt

Q13496 (UniProt - Evidence at protein level)

neXtProt

NX_Q13496

Antibodypedia

MTM1 antibodies


PROTEIN BROWSER

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ENST00000370396
 
ENST00000424519
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MTM1-002 ENSP00000359423
ENST00000370396
Q13496
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Show » Show » 603 69.9 No 0
MTM1-005 ENSP00000400699
ENST00000424519
C9J2A2
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Show » 103 11.9 No 0