PCMT1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase)

2003-05-01  

Identity

HGNC
LOCATION
6q25.1
LOCUSID
ALIAS
PIMT
FUSION GENES

Other Information

Locus ID:

NCBI: 5110
MIM: 176851
HGNC: 8728
Ensembl: ENSG00000120265

Variants:

dbSNP: 5110
ClinVar: 5110
TCGA: ENSG00000120265
COSMIC: PCMT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120265ENST00000367378P22061
ENSG00000120265ENST00000367378A0A384MDK7
ENSG00000120265ENST00000367380A0A3F2YNX8
ENSG00000120265ENST00000367384P22061
ENSG00000120265ENST00000460828F8WDT3
ENSG00000120265ENST00000464889P22061
ENSG00000120265ENST00000464889A0A384MDK7
ENSG00000120265ENST00000484601F8WAV5
ENSG00000120265ENST00000486585H7C4X2
ENSG00000120265ENST00000494411F8WAX2
ENSG00000120265ENST00000495487C9J0F2
ENSG00000120265ENST00000544496F6S8N6
ENSG00000120265ENST00000649295A0A0A0MRJ6

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Protein repairREACTOMER-HSA-5676934

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
191102652009Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.43
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
227354552012Protein L-isoaspartyl methyltransferase regulates p53 activity.19
183812002008Suppression of protein l-isoaspartyl (d-aspartyl) methyltransferase results in hyperactivation of EGF-stimulated MEK-ERK signaling in cultured mammalian cells.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
162563892006A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.8
162563892006A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.8

Citation

Dessen P

PCMT1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41669/pcmt1