MTMR12

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

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)[1] Band 5p13.3 Start 32,226,994 bp[1] End 32,312,987 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 A1 Start 12,205,028 bp[2] End 12,274,496 bp[2]
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
Species	Human	Mouse
Entrez	54545	268783
Ensembl	ENSG00000150712	ENSMUSG00000039458
UniProt	Q9C0I1	Q80TA6
RefSeq (mRNA)	NM_001040446 NM_001294343 NM_001294344 NM_019061	NM_172958 NM_001356498
RefSeq (protein)	NP_001035536 NP_001281272 NP_001281273	NP_766546 NP_001343427
Location (UCSC)	Chr 5: 32.23 – 32.31 Mb	Chr 15: 12.21 – 12.27 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.

References

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

Further reading

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