MTMR1

Protein-coding gene in the species Homo sapiens
MTMR1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

5C16

Identifiers
AliasesMTMR1, myotubularin related protein 1
External IDsOMIM: 300171; MGI: 1858271; HomoloGene: 2840; GeneCards: MTMR1; OMA:MTMR1 - orthologs
EC number3.1.3.64
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for MTMR1
Genomic location for MTMR1
BandXq28Start150,692,971 bp[1]
End150,765,108 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for MTMR1
Genomic location for MTMR1
BandX|X A7.3Start70,408,366 bp[2]
End70,462,802 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • buccal mucosa cell

  • gingival epithelium

  • middle temporal gyrus

  • skin of thigh

  • epithelium of nasopharynx

  • Brodmann area 23

  • thymus

  • amniotic fluid

  • palpebral conjunctiva
Top expressed in
  • muscle of thigh

  • neural layer of retina

  • temporal muscle

  • triceps brachii muscle

  • dentate gyrus of hippocampal formation granule cell

  • sternocleidomastoid muscle

  • superior frontal gyrus

  • digastric muscle

  • primary visual cortex

  • esophagus
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • protein tyrosine phosphatase activity
  • phosphatase activity
  • hydrolase activity
  • protein homodimerization activity
  • phosphatidylinositol-3-phosphatase activity
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
  • phosphatidylinositol phosphate phosphatase activity
Cellular component
  • cytosol
  • plasma membrane
  • membrane
  • cytoplasm
Biological process
  • phosphatidylinositol biosynthetic process
  • peptidyl-tyrosine dephosphorylation
  • phosphatidylinositol dephosphorylation
  • lipid metabolism
  • dephosphorylation
  • regulation of phosphatidylinositol dephosphorylation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8776

53332

Ensembl

ENSG00000063601

ENSMUSG00000015214

UniProt

Q13613

Q9Z2C4

RefSeq (mRNA)
NM_001306144
NM_001306145
NM_003828
NM_176789
NM_001353990

NM_001353991
NM_001353992
NM_001353993
NM_001353994
NM_001353995
NM_001353996

NM_016985
NM_001313702
NM_001313703
NM_001313706
NM_001313707

NM_001313704

RefSeq (protein)
NP_001293073
NP_001293074
NP_003819
NP_001340919
NP_001340920

NP_001340921
NP_001340922
NP_001340923
NP_001340924
NP_001340925

NP_001300631
NP_001300632
NP_001300633
NP_001300635
NP_001300636

NP_058681

Location (UCSC)Chr X: 150.69 – 150.77 MbChr X: 70.41 – 70.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myotubularin-related protein 1 is a protein that in humans is encoded by the MTMR1 gene.[5][6]

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000063601 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015214 – Ensembl, 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. ^ Kioschis P, Wiemann S, Heiss NS, Francis F, Gotz C, Poustka A, Taudien S, Platzer M, Wiehe T, Beckmann G, Weber J, Nordsiek G, Rosenthal A (Jan 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.
  6. ^ a b "Entrez Gene: MTMR1 myotubularin related protein 1".

Further reading

  • 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.
  • 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.
  • <Please add first missing authors to populate metadata.> (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
  • Laporte J, Blondeau F, Buj-Bello A, Mandel JL (2001). "The myotubularin family: from genetic disease to phosphoinositide metabolism". Trends Genet. 17 (4): 221–8. doi:10.1016/S0168-9525(01)02245-4. PMID 11275328.
  • Kim SA, Taylor GS, Torgersen KM, Dixon JE (2002). "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease". J. Biol. Chem. 277 (6): 4526–31. doi:10.1074/jbc.M111087200. PMID 11733541.
  • Laporte J, Liaubet L, Blondeau F, et al. (2002). "Functional redundancy in the myotubularin family". Biochem. Biophys. Res. Commun. 291 (2): 305–12. doi:10.1006/bbrc.2002.6445. PMID 11846405.
  • Buj-Bello A, Furling D, Tronchère H, et al. (2003). "Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells". Hum. Mol. Genet. 11 (19): 2297–307. doi:10.1093/hmg/11.19.2297. PMID 12217958.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.


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