Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1

PCMTD1
Identifiers
Aliases	PCMTD1, protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
External IDs	MGI: 2441773; HomoloGene: 14180; GeneCards: PCMTD1; OMA:PCMTD1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q11.23 Start 51,817,575 bp End 51,899,186 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 A1 Start 7,159,144 bp End 7,243,852 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii cardiac muscle tissue of right atrium myocardium of left ventricle skin of arm parotid gland vastus lateralis muscle pancreatic epithelial cell Achilles tendon amniotic fluid Skeletal muscle tissue of rectus abdominis Top expressed in parotid gland olfactory tubercle lacrimal gland tail of embryo dorsal striatum globus pallidus nucleus accumbens inferior colliculi epithelium of lens intercostal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function protein-L-isoaspartate (D-aspartate) O-methyltransferase activity Cellular component membrane cytoplasm Biological process methylation protein methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 115294 319263 Ensembl ENSG00000168300 ENSMUSG00000051285 UniProt Q96MG8 P59913 RefSeq (mRNA) NM_001286782 NM_001286783 NM_052937 NM_001363193 NM_183028 RefSeq (protein) NP_001273711 NP_001273712 NP_443169 NP_001350122 NP_898849 Location (UCSC) Chr 8: 51.82 – 51.9 Mb Chr 1: 7.16 – 7.24 Mb PubMed search
Wikidata
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Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 is a protein that in humans is encoded by the PCMTD1 gene.

Further reading

• 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.
• Day AC, Luben R, Khawaja AP, Low S, Hayat S, Dalzell N, Wareham NJ, Khaw KT, Foster PJ (2013). "Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study". Br J Ophthalmol. 97 (6): 704–7. doi:10.1136/bjophthalmol-2012-302969. PMC 4624259. PMID 23505305.
• Duvesh R, Verma A, Venkatesh R, Kavitha S, Ramulu PY, Wojciechowski R, Sundaresan P (2013). "Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure". Invest. Ophthalmol. Vis. Sci. 54 (8): 5624–8. doi:10.1167/iovs.13-12186. PMC 3747718. PMID 23847314.
• Wei X, Nongpiur ME, de Leon MS, Baskaran M, Perera SA, How AC, Vithana EN, Khor CC, Aung T (2014). "Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms". Invest. Ophthalmol. Vis. Sci. 55 (2): 1143–8. doi:10.1167/iovs.13-13552. PMID 24474268.