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MTM1 myotubularin 1 [ Homo sapiens (human) ]

Gene ID: 4534, updated on 5-Aug-2018

Summary

Official Symbol
MTM1provided by HGNC
Official Full Name
myotubularin 1provided by HGNC
Primary source
HGNC:HGNC:7448
See related
Ensembl:ENSG00000171100 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]
Expression
Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See MTM1 in Genome Data Viewer
Location:
Xq28
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (150562658..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 cross complementing 6 pseudogene 2 Neighboring gene mastermind like domain containing 1 Neighboring gene myotubularin related protein 1 Neighboring gene CD99 molecule like 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 
muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TOR signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
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 
positive regulation of skeletal muscle tissue growth IEA
Inferred from Electronic Annotation
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 
Component Evidence Code Pubs
I band IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
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 

General protein information

Preferred Names
myotubularin
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_000243.1
XP_005274744.1
XP_011529473.1
XP_011529474.1
XP_011529475.1
XP_016885036.1
XP_016885037.1
XP_016885038.1
XP_016885039.1
XP_016885040.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5001..109570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_839

mRNA and Protein(s)

  1. NM_000252.2NP_000243.1  myotubularin

    See identical proteins and their annotated locations for NP_000243.1

    Status: REVIEWED

    Source sequence(s)
    BC030779, BQ002481, DC418907, U46024
    Consensus CDS
    CCDS14694.1
    UniProtKB/Swiss-Prot
    Q13496
    UniProtKB/TrEMBL
    A0A024RC06
    Related
    ENSP00000359423.2, OTTHUMP00000025853, ENST00000370396.6, OTTHUMT00000060847
    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:166489
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    150562658..150673143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531172.1XP_011529474.1  myotubularin isoform X2

    See identical proteins and their annotated locations for XP_011529474.1

    Conserved Domains (2) summary
    pfam06602
    Location:165498
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44158
    PH-like; Pleckstrin homology-like domain
  2. XM_005274687.2XP_005274744.1  myotubularin isoform X3

    See identical proteins and their annotated locations for XP_005274744.1

    UniProtKB/Swiss-Prot
    Q13496
    UniProtKB/TrEMBL
    A0A024RC06
    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:166489
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_011531171.1XP_011529473.1  myotubularin isoform X2

    See identical proteins and their annotated locations for XP_011529473.1

    Conserved Domains (2) summary
    pfam06602
    Location:165498
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44158
    PH-like; Pleckstrin homology-like domain
  4. XM_017029550.1XP_016885039.1  myotubularin isoform X5

    UniProtKB/Swiss-Prot
    Q13496
    Conserved Domains (2) summary
    pfam06602
    Location:113446
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44106
    PH-like; Pleckstrin homology-like domain
  5. XM_017029549.1XP_016885038.1  myotubularin isoform X4

    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:150483
    Myotub-related; Myotubularin-like phosphatase domain
  6. XM_011531173.2XP_011529475.1  myotubularin isoform X3

    See identical proteins and their annotated locations for XP_011529475.1

    UniProtKB/Swiss-Prot
    Q13496
    UniProtKB/TrEMBL
    A0A024RC06
    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:166489
    Myotub-related; Myotubularin-like phosphatase domain
  7. XM_017029548.1XP_016885037.1  myotubularin isoform X2

    Conserved Domains (2) summary
    pfam06602
    Location:165498
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44158
    PH-like; Pleckstrin homology-like domain
  8. XM_017029547.1XP_016885036.1  myotubularin isoform X1

  9. XM_017029551.2XP_016885040.1  myotubularin isoform X6

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