Homo sapiens Gene: PCMT1 | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 6:149749443-149811420 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q25.1 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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 | ||||||||||||||||||||||