Homo sapiens Gene: PCMT1
Summary
InnateDB Gene IDBG-97785.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PCMT1
Gene Name protein-L-isoaspartate (D-aspartate) O-methyltransferase
Synonyms PIMT
Species Homo sapiens
Ensembl Gene ENSG00000120265
Encoded Proteins
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
protein-L-isoaspartate (D-aspartate) O-methyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer\'s disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:149749443-149811420
Strand Forward strand
Band q25.1
Transcripts
ENST00000367380 ENSP00000356350
ENST00000367384 ENSP00000356354
ENST00000367378 ENSP00000356348
ENST00000464889 ENSP00000420813
ENST00000484601 ENSP00000417448
ENST00000460828 ENSP00000420804
ENST00000494411 ENSP00000417112
ENST00000486585 ENSP00000418461
ENST00000495487 ENSP00000418881
ENST00000480010
ENST00000544496 ENSP00000438247
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 49 [view]
Protein-Protein 46 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004719 protein-L-isoaspartate (D-aspartate) O-methyltransferase activity
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity
Biological Process
GO:0006464 cellular protein modification process
GO:0006479 protein methylation
GO:0030091 protein repair
GO:0046498 S-adenosylhomocysteine metabolic process
GO:0046500 S-adenosylmethionine metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 5110
UniGene Hs.279257 Hs.714086
RefSeq NM_001252050 NM_001252049 NM_001252051 NM_001252052 NM_001252053 NM_005389
HUGO HGNC:8728
OMIM 176851
CCDS CCDS75533 CCDS5219 CCDS59041 CCDS75534
HPRD 08908
IMGT
EMBL
GenPept
RNA Seq Atlas 5110