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Myotubularin 1

Українська

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From Wikipedia, the free encyclopedia

For the 1996 racing video game, seeMonster Truck Madness.

Protein-coding gene in the species Homo sapiens

MTM1

Identifiers

Aliases

MTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX

External IDs

OMIM:300415;MGI:1099452;HomoloGene:37279;GeneCards:MTM1;OMA:MTM1 - orthologs

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xq28	Start	150,568,417bp^[1]
Band	Xq28	End	150,673,143bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X A7.2- A7.3\|X 36.55 cM	Start	70,254,373bp^[2]
Band	X A7.2- A7.3\|X 36.55 cM	End	70,359,297bp^[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

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]

Wikidata

View/Edit Human

View/Edit Mouse

Myotubularin is aprotein that in humans is encoded by theMTM1gene.^[5]

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 forX-linked myotubular myopathy.^[5]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000171100 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000031337 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^^a ^b"Entrez Gene: MTM1 myotubularin 1".

Laporte J, Biancalana V, Tanner SM, et al. (2000)."MTM1 mutations in X-linked myotubular myopathy".Hum. Mutat.15 (5):393–409.doi:10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R.PMID 10790201.S2CID 27091541.
Wishart MJ, Dixon JE (2003). "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease".Trends Cell Biol.12 (12):579–85.doi:10.1016/S0962-8924(02)02412-1.PMID 12495846.
Laporte J, Bedez F, Bolino A, Mandel JL (2004)."Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases".Hum. Mol. Genet. 12. Spec No 2 (90002): R285–92.doi:10.1093/hmg/ddg273.PMID 12925573.
Kovács SK, Korcsik J, Szabó H, et al. (2007). "[Myotubular myopathy. Case report and review of the literature]".Orvosi Hetilap.148 (37):1757–62.doi:10.1556/OH.2007.28054.hdl:2437/112730.PMID 17827085.
Magnussen E (1975). "[In memoriam: Elisabeth Larsen]".Sygeplejersken.75 (9):16–7.PMID 1090027.
Liechti-Gallati S, Müller B, Grimm T, et al. (1992). "X-linked centronuclear myopathy: mapping the gene to Xq28".Neuromuscul. Disord.1 (4):239–45.doi:10.1016/0960-8966(91)90096-B.PMID 1822801.S2CID 34044731.
Laporte J, Hu LJ, Kretz C, et al. (1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast".Nat. Genet.13 (2):175–82.doi:10.1038/ng0696-175.PMID 8640223.S2CID 30028223.
de Gouyon BM, Zhao W, Laporte J, et al. (1998)."Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy".Hum. Mol. Genet.6 (9):1499–504.doi:10.1093/hmg/6.9.1499.PMID 9285787.
Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. (1998)."Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center".Hum. Mol. Genet.6 (9):1505–11.doi:10.1093/hmg/6.9.1505.PMID 9305655.
Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S (1998). "Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene".Hum. Mutat.11 (1):62–8.doi:10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X.PMID 9450905.S2CID 39568857.
Cui X, De Vivo I, Slany R, et al. (1998). "Association of SET domain and myotubularin-related proteins modulates growth control".Nat. Genet.18 (4):331–7.doi:10.1038/ng0498-331.PMID 9537414.S2CID 25209204.
Laporte J, Blondeau F, Buj-Bello A, et al. (1998)."Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human".Hum. Mol. Genet.7 (11):1703–12.doi:10.1093/hmg/7.11.1703.PMID 9736772.
Laporte J, Guiraud-Chaumeil C, Tanner SM, et al. (1998)."Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy".Eur. J. Hum. Genet.6 (4):325–30.doi:10.1038/sj.ejhg.5200189.PMID 9781038.
Kioschis P, Wiemann S, Heiss NS, et al. (1999). "Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)".Genomics.54 (2):256–66.doi:10.1006/geno.1998.5560.PMID 9828128.
Nishino I, Minami N, Kobayashi O, et al. (1999)."MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy".Neuromuscul. Disord.8 (7):453–8.doi:10.1016/S0960-8966(98)00075-3.PMID 9829274.S2CID 7841418.
Tanner SM, Schneider V, Thomas NS, et al. (1999). "Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients".Neuromuscul. Disord.9 (1):41–9.doi:10.1016/S0960-8966(98)00090-X.PMID 10063835.S2CID 10574620.
Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy".Clin. Genet.56 (1):77–81.doi:10.1034/j.1399-0004.1999.560111.x.PMID 10466421.S2CID 826588.
Buj-Bello A, Biancalana V, Moutou C, et al. (1999). "Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy".Hum. Mutat.14 (4):320–5.doi:10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O.PMID 10502779.S2CID 6417585.
Taylor GS, Maehama T, Dixon JE (2000)."Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate".Proc. Natl. Acad. Sci. U.S.A.97 (16):8910–5.Bibcode:2000PNAS...97.8910T.doi:10.1073/pnas.160255697.PMC 16795.PMID 10900271.
Mansat M, Kpotor AO, Chicanne G, Picot M, Mazars A, Flores-Flores R, Payrastre B, Hnia K, Viaud J (2024)."MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion".Proc. Natl. Acad. Sci. U.S.A.97 (16) e2217971121:8910–5.Bibcode:2024PNAS..12117971M.doi:10.1073/pnas.2217971121.PMC 11161799.PMID 38805272.

External links

[edit]

GeneReviews/NCBI/NIH/UW entry on X-Linked Myotubular Myopathy or Centronuclear Myopathy

Esterase:protein tyrosine phosphatases (EC 3.1.3.48)

Class I

Classical PTPs

Receptor type PTPs	PTPRA PTPRB PTPRC PTPRD PTPRE PTPRF PTPRG PTPRH PTPRJ PTPRK PTPRM PTPRN PTPRN2 PTPRO PTPRQ PTPRR PTPRS PTPRT PTPRU PTPRZ1 PTPRZ2
Non receptor type PTPs	PTPN1 PTPN2 PTPN3 PTPN4 PTPN5 PTPN6 PTPN7 PTPN9 PTPN11 PTPN12 PTPN13 PTPN14 PTPN18 PTPN20 PTPN21 PTPN22 PTPN23

VH1-like or
dual specific
phosphatases
(DSPs)

MAPK phosphatases (MKPs)	DUSP1 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 DUSP10 DUSP16 MK-STYX
Slingshots	SSH1 SSH2 SSH3
PRLs	PTP4A1 PTP4A2 PTP4A3
CDC14s	CDC14A CDC14B CDKN3 PTP9Q22
Atypical DSPs	DUSP3 DUSP11 DUSP12 DUSP13A DUSP13B DUSP14 DUSP15 DUSP18 DUSP19 DUSP21 DUSP22 DUSP23 DUSP24 DUSP25 DUSP26 DUSP27 EMP2A RNGTT STYX
Phosphatase and tensin homologs (PTENs)	PTEN TPIP TPTE TNS TENC1
Myotubularins	MTM1 MTMR2 MTMR3 MTMR4 MTMR5 MTMR6 MTMR7 MTMR8 MTMR9 MTMR10 MTMR11 MTMR12 MTMR13 MTMR14 MTMR15