Myotubularin 1

Myotubularin is a protein that in humans is encoded by the MTM1 gene.^[5]

AliasesMTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX

External IDsOMIM: 300415; MGI: 1099452; GeneCards: MTM1

Chr.X chromosome (human)^[1]

End150,673,143 bp^[1]

Quick facts MTM1, Identifiers ...

MTM1
Identifiers
Aliases	MTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX
External IDs	OMIM: 300415; MGI: 1099452; GeneCards: MTM1
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.1.3.95 ↗ ↗ ↗ ↗
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 150,568,417 bp[1] End 150,673,143 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.2- A7.3|X 36.55 cM Start 70,254,373 bp[2] End 70,359,297 bp[2]
RNA expression pattern Bgee Human Mouse (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 cell 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 phosphoprotein phosphatase activity intermediate filament binding phosphatase activity protein binding phosphatidylinositol binding protein tyrosine phosphatase activity hydrolase activity phosphatidylinositol-3-phosphatase activity phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component cytoplasm endosome late endosome cell projection membrane I band filopodium ruffle plasma membrane cytosol sarcomere Biological process negative regulation of autophagosome assembly negative regulation of protein kinase B signaling muscle cell cellular homeostasis lipid metabolism protein dephosphorylation negative regulation of TOR signaling mitochondrion distribution negative regulation of proteasomal ubiquitin-dependent protein catabolic process protein transport phosphatidylinositol biosynthetic process peptidyl-tyrosine dephosphorylation mitochondrion morphogenesis positive regulation of skeletal muscle tissue growth dephosphorylation endosome to lysosome transport regulation of vacuole organization intermediate filament organization phosphatidylinositol dephosphorylation Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse 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 Mb Chr X: 70.25 – 70.36 Mb PubMed search [3] [4]
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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.^[5]