MTMR14

Protein-coding gene in the species Homo sapiens
MTMR14
Identifiers
AliasesMTMR14, C3orf29, myotubularin related protein 14
External IDsOMIM: 611089; MGI: 1916075; HomoloGene: 11203; GeneCards: MTMR14; OMA:MTMR14 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for MTMR14
Genomic location for MTMR14
Band3p25.3Start9,649,433 bp[1]
End9,702,393 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for MTMR14
Genomic location for MTMR14
Band6|6 E3Start113,214,804 bp[2]
End113,258,353 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 113.21 – 113.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000163719 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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.


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