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MTM1 myotubularin 1 [ Homo sapiens (human) ]

Gene ID: 4534, updated on 21-Nov-2014
Official Symbol
MTM1provided by HGNC
Official Full Name
myotubularin 1provided by HGNC
Primary source
HGNC:HGNC:7448
See related
Ensembl:ENSG00000171100; HPRD:02331; MIM:300415; Vega:OTTHUMG00000024158
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNM; MTMX; XLMTM
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]
See MTM1 in Epigenomics, MapViewer
Location:
Xq28
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (150562653..150673143)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149731104..149841616)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2 Neighboring gene mastermind-like domain containing 1 Neighboring gene myotubularin related protein 1 Neighboring gene CD99 molecule-like 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Severe X-linked myotubular myopathy Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
intermediate filament binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endosome to lysosome transport IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of vacuole organization IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
myotubularin
Names
myotubularin
phosphatidylinositol-3-phosphate phosphatase
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
NP_000243.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008199.1 

    Range
    5001..109570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000252.2NP_000243.1  myotubularin

    See proteins identical to NP_000243.1

    Status: REVIEWED

    Source sequence(s)
    BC030779, BQ002481, DC418907, U46024
    Consensus CDS
    CCDS14694.1
    UniProtKB/TrEMBL
    A0A024RC06
    UniProtKB/Swiss-Prot
    Q13496
    Related
    ENSP00000359423, OTTHUMP00000025853, ENST00000370396, OTTHUMT00000060847
    Conserved Domains (2) summary
    cd13355
    Location:11162
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:149489
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    138597863..138702094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    150562653..150673143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274687.1XP_005274744.1  

    See proteins identical to XP_005274744.1

    UniProtKB/TrEMBL
    A0A024RC06
    UniProtKB/Swiss-Prot
    Q13496
    Conserved Domains (2) summary
    cd13355
    Location:11162
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:149489
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_006724820.1XP_006724883.1  

    Conserved Domains (2) summary
    cd13355
    Location:18169
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:156496
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_006724821.1XP_006724884.1  

    Conserved Domains (2) summary
    cd13355
    Location:18169
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:156496
    Myotub-related; Myotubularin-like phosphatase domain
  4. XM_006724822.1XP_006724885.1  

    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:18132
    PH-like; Pleckstrin homology-like domain

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    149611646..149715992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)