MTMR12

MTMR12
Identifiers
Aliases	MTMR12 , 3-PAP, PIP3AP, myotubularin related protein 12
External IDs	OMIM: 606501 MGI: 2443034 HomoloGene: 10403 GeneCards: MTMR12
Gene location (Human)
Chr.	Chromosome 5 (human)
End	32,312,987 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	12,274,496 bp
Gene ontology
Molecular function	• GO:0001948 protein binding ; • phosphatase regulator activity ;
Cellular component	• cytosol ; • cytoplasm ; • sarcoplasmic reticulum ; • sarcomere ;
Biological process	• toxin transport ; • GO:0048552 regulation of catalytic activity ; • phosphatidylinositol biosynthetic process ;
	Sources:Amigo / QuickGO
Orthologs
	54545
	268783
	ENSG00000150712
	ENSMUSG00000039458
	Q9C0I1
	Q80TA6
	NM_001040446 ; NM_001294343 ; NM_001294344 ; NM_019061
	NM_172958 ; NM_001356498
	NP_001035536 ; NP_001281272 ; NP_001281273
	NP_766546 ; NP_001343427
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated May 16, 2021

Myotubularin related protein 12 is a protein that in humans is encoded by the MTMR12 gene.^[5]

Function

Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Related Research Articles

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with the GRAM domain InterPro: IPR004182. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate. Mutations in gene encoding myotubularin-related proteins have been associated with disease.

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

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.

Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.

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

Protein phosphatase 1 regulatory subunit 14B is an enzyme that in humans is encoded by the PPP1R14B gene.

Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform (PP2BC) is an enzyme that in humans is encoded by the PPP3CC gene.

Arf-GAP with dual PH domain-containing protein 2 is a protein that in humans is encoded by the ADAP2 gene.

Tyrosine-protein phosphatase non-receptor type 4 is an enzyme that in humans is encoded by the PTPN4 gene.

Guanine nucleotide-binding protein subunit alpha-12 is a protein that in humans is encoded by the GNA12 gene.

Phosphatase and actin regulator 3 is an enzyme that in humans is encoded by the PHACTR3 gene.

Voltage-dependent calcium channel gamma-4 subunit is a protein that in humans is encoded by the CACNG4 gene.

RRP15-like protein is a protein that in humans is encoded by the RRP15 gene.

Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma is an enzyme that in humans is encoded by the PPP2R3C gene.

Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 is a protein that in humans is encoded by the ARAP3 gene.

Dual specificity protein phosphatase 15 is an enzyme that in humans is encoded by the DUSP15 gene.

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.

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

Protein phosphatase 1 regulatory subunit 12C is a protein that in humans is encoded by the PPP1R12C gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000150712 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039458 - 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.
↑ "Entrez Gene: Myotubularin related protein 12" . Retrieved 2017-05-19.

Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Majerus PW, Mitchell CA (2003). "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8660–5. Bibcode:2003PNAS..100.8660N. doi:10.1073/pnas.1033097100. PMC 166368 . PMID 12847286.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464 . PMID 20379614.
Ritter BP, Angelo GW, Durner M, Rossy-Fullana E, Carrion-Baralt J, Silverman JM, Bespalova IN (2012). "Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia". Psychiatr. Genet. 22 (1): 51–2. doi:10.1097/YPG.0b013e3283463dd7. PMID 21451436.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000150712 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039458 - 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.

[entrez-5] "Entrez Gene: Myotubularin related protein 12" . Retrieved 2017-05-19.

[1]

[2]

[3]

[4]

[5]

MTMR12

Contents

Function

Related Research Articles

References

Further reading