MTMR14

MTMR14
Identifiers
Aliases	MTMR14 , C3orf29, myotubularin related protein 14
External IDs	OMIM: 611089 MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14
Gene location (Human)
Chr.	Chromosome 3 (human)
End	9,702,393 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	113,258,353 bp
RNA expression pattern
	Top expressed in
	monocyte; ; blood; ; gastrocnemius muscle; ; bone marrow cells; ; left ventricle; ; spleen; ; lymph node; ; Achilles tendon; ; upper lobe of left lung; ; right lung;
	Top expressed in
	secondary oocyte; ; spermatid; ; spermatocyte; ; ascending aorta; ; blood; ; ganglionic eminence; ; yolk sac; ; endocardial cushion; ; thymus; ; neural tube;
	More reference expression data
	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
	64419
	97287
	ENSG00000163719
	ENSMUSG00000030269
	Q8NCE2
	Q8VEL2
	NM_001077525 ; NM_001077526 ; NM_022485
	NM_026849 ; NM_001362182 ; NM_001362183 ; NM_001362185
	NP_001070993 ; NP_001070994 ; NP_071930
	NP_081125 ; NP_001349111 ; NP_001349112 ; NP_001349114
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated November 12, 2023

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]

Related Research Articles

<span class="mw-page-title-main">Phosphatidylinositol 3,5-bisphosphate</span> Chemical compound

Phosphatidylinositol 3,5-bisphosphate is one of the seven phosphoinositides found in eukaryotic cell membranes. In quiescent cells, the PtdIns(3,5)P2 levels, typically quantified by HPLC, are the lowest amongst the constitutively present phosphoinositides. They are approximately 3 to 5-fold lower as compared to PtdIns3P and PtdIns5P levels, and more than 100-fold lower than the abundant PtdIns4P and PtdIns(4,5)P2. PtdIns(3,5)P2 was first reported to occur in mouse fibroblasts and budding yeast S. cerevisiae in 1997. In S. cerevisiae PtdIns(3,5)P2 levels increase dramatically during hyperosmotic shock. The response to hyperosmotic challenge is not conserved in most tested mammalian cells except for differentiated 3T3L1 adipocytes.

PIKfyve, a FYVE finger-containing phosphoinositide kinase, is an enzyme that in humans is encoded by the PIKFYVE gene.

Alpha-taxilin also known as interleukin-14 (IL-14) or high molecular weight B-cell growth factor (HMW-BCGF) is a protein that in humans is encoded by the TXLNA gene.

Ras-related protein Rab-14 is a protein that in humans is encoded by the RAB14 gene.

PAS domain-containing serine/threonine-protein kinase is an enzyme that in humans is encoded by the PASK gene.

Protein FAM107A is a protein that in humans is encoded by the FAM107A gene.

14 kDa phosphohistidine phosphatase is an enzyme that in humans is encoded by the PHPT1 gene.

Myotubularin-related protein 6 is a protein that in humans is encoded by the MTMR6 gene.

Protein phosphatase 1 regulatory subunit 11 is an enzyme that in humans is encoded by the PPP1R11 gene.

Phosphatidylinositide phosphatase SAC1 is an enzyme that in humans is encoded by the SACM1L gene.

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.

DNA polymerase epsilon subunit 3 is an enzyme that in humans is encoded by the POLE3 gene.

Mitochondrial fission regulator 1 like is a protein that in humans is encoded by the MTFR1L gene.

SPRY domain-containing SOCS box protein 1 is a protein that in humans is encoded by the SPSB1 gene.

PH domain and leucine rich repeat protein phosphatase-like, also known as PHLPPL, is an enzyme which in humans is encoded by the PHLPPL gene.

Protein phosphatase 1 regulatory subunit 3C also known as PTG is an enzyme that in humans is encoded by the PPP1R3C gene.

Solute carrier family 25 member 39 is a protein that in humans is encoded by the SLC25A39 gene. The protein has been shown to be necessary for the import of the major antioxidant glutathione into the mitochondria.

UPF0528 protein FAM172A is a protein that in humans is encoded by the FAM172A gene.

Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 (Sac3) is an enzyme that in humans is encoded by the FIG4 gene. Fig4 is an abbreviation for Factor-Induced Gene.

Protein VAC14 homolog, also known as ArPIKfyve, is a protein that in humans is encoded by the VAC14 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000163719 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030269 - 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.
↑ 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.
1 2 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.

MTMR14

Contents

Function

Clinical significance

Related Research Articles

References

Further reading