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Myotubularin 1

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For the 1996 racing video game, see Monster Truck Madness. Protein-coding gene in the species Homo sapiens
MTM1
Identifiers
AliasesMTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX
External IDsOMIM: 300415; MGI: 1099452; HomoloGene: 37279; GeneCards: MTM1; OMA:MTM1 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)
X chromosome (human)Genomic location for MTM1Genomic location for MTM1
BandXq28Start150,568,417 bp
End150,673,143 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for MTM1Genomic location for MTM1
BandX A7.2- A7.3|X 36.55 cMStart70,254,373 bp
End70,359,297 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • rectum

  • germinal epithelium

  • monocyte

  • mucosa of colon

  • mucosa of sigmoid colon

  • jejunal mucosa

  • epithelium of colon

  • Achilles tendon

  • bone marrow cells
Top expressed in
  • left colon

  • jejunum

  • Epithelium of choroid plexus

  • lobe of cerebellum

  • ileum

  • soleus muscle

  • cerebellar vermis

  • brown adipose tissue

  • granulocyte

  • myocardium of ventricle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4534

17772

Ensembl

ENSG00000171100

ENSMUSG00000031337

UniProt

Q13496

Q9Z2C5

RefSeq (mRNA)

NM_000252
NM_001376906
NM_001376907
NM_001376908

NM_001164190
NM_001164191
NM_001164192
NM_001164193
NM_019926

NM_001358113

RefSeq (protein)

NP_000243
NP_001363835
NP_001363836
NP_001363837

NP_001157662
NP_001157663
NP_001157664
NP_001157665
NP_064310

NP_001345042

Location (UCSC)Chr X: 150.57 – 150.67 MbChr X: 70.25 – 70.36 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000171100Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031337Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: MTM1 myotubularin 1".

Further reading

External links

Esterase: protein tyrosine phosphatases (EC 3.1.3.48)
Class I
Classical PTPs
Receptor type PTPs
Non receptor type PTPs
VH1-like or
dual specific
phosphatases

(DSPs)
MAPK phosphatases (MKPs)
Slingshots
PRLs
CDC14s
Atypical DSPs
Phosphatase and tensin
homologs (PTENs)
Myotubularins
Class II
Class III
Class IV
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