MTMR1

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

MTMR1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMTMR1, myotubularin related protein 1
External IDsOMIM: 300171 MGI: 1858271 HomoloGene: 2840 GeneCards: MTMR1
EC number3.1.3.64
Orthologs
SpeciesHumanMouse
Entrez

8776

53332

Ensembl

ENSG00000063601

ENSMUSG00000015214

UniProt

Q13613

Q9Z2C4

RefSeq (mRNA)
RefSeq (protein)
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

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. GRCh38: Ensembl release 89: ENSG00000063601 - Ensembl, May 2017
  2. 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. "Entrez Gene: MTMR1 myotubularin related protein 1".

Further reading


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