MTMR14

MTMR14
Identifiers
Aliases	MTMR14, C3orf29, myotubularin related protein 14
External IDs	OMIM: 611089; MGI: 1916075; HomoloGene: 11203; GeneCards: MTMR14; OMA:MTMR14 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p25.3 Start 9,649,433 bp[1] End 9,702,393 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 E3 Start 113,214,804 bp[2] End 113,258,353 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte apex of heart blood gastrocnemius muscle right auricle muscle of thigh bone marrow cells left ventricle spleen Top expressed in zygote primary oocyte secondary oocyte spermatid granulocyte spermatocyte epiblast tail of embryo Gonadal ridge genital tubercle More reference expression data BioGPS n/a
Gene ontology Molecular function protein tyrosine phosphatase activity protein binding hydrolase activity phosphatidylinositol-3-phosphatase activity protein serine/threonine phosphatase activity phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component ruffle perinuclear region of cytoplasm cytoplasm cytosol Biological process phosphatidylinositol biosynthetic process peptidyl-tyrosine dephosphorylation macroautophagy dephosphorylation protein dephosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64419 97287 Ensembl ENSG00000163719 ENSMUSG00000030269 UniProt Q8NCE2 Q8VEL2 RefSeq (mRNA) NM_001077525 NM_001077526 NM_022485 NM_026849 NM_001362182 NM_001362183 NM_001362185 RefSeq (protein) NP_001070993 NP_001070994 NP_071930 NP_081125 NP_001349111 NP_001349112 NP_001349114 Location (UCSC) Chr 3: 9.65 – 9.7 Mb Chr 6: 113.21 – 113.26 Mb PubMed search [3] [4]
Wikidata
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Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[5]

Function

Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P₂.[6]

Clinical significance

Mutations in the MTMR14 gene are associated with myotubular myopathy.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000163719 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030269 – 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. Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T (June 2004). "Protein tyrosine phosphatases in the human genome". Cell. 117 (6): 699–711. doi:10.1016/j.cell.2004.05.018. PMID 15186772. S2CID 18072568.
6. Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J (November 2006). "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy". Hum. Mol. Genet. 15 (21): 3098–106. doi:10.1093/hmg/ddl250. PMID 17008356.

Further reading

• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.