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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]
PCMT1 (Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase) is a Protein Coding gene. Diseases associated with PCMT1 include Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema and Type 1 Diabetes Mellitus 5. Among its related pathways are Protein repair and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include S-adenosylmethionine-dependent methyltransferase activity and protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. An important paralog of this gene is PCMTD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004719 | protein-L-isoaspartate (D-aspartate) O-methyltransferase activity | IEA,TAS | 8074695 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008168 | methyltransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
GO:1903561 | extracellular vesicle | HDA | 24769233 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Protein repair |
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006464 | cellular protein modification process | IEA | -- |
GO:0006479 | protein methylation | IEA,TAS | 3355545 |
GO:0030091 | protein repair | TAS | 8074695 |
GO:0032259 | methylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
s-adenosylhomocysteine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PCMT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PCMT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PCMT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pcmt1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PCMT1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PCMT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PCMT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PCMT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pcmt1 30 |
|
||
Str.12222 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6342 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pcmt 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1437 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pcmt 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000457 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pcm-1 30 31 32 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PIMT1 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.817 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0557000 30 |
|
||
Os.6061 30 |
|
||||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pcm2 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05078 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1090 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs4816 | - | p.Val120Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1023e201 | CNV | deletion | 23290073 |
esv2259693 | CNV | deletion | 18987734 |
esv2600122 | CNV | deletion | 19546169 |
esv2678537 | CNV | deletion | 23128226 |
esv2732861 | CNV | deletion | 23290073 |
esv2732864 | CNV | deletion | 23290073 |
nsv1141827 | CNV | insertion | 24896259 |
nsv1148946 | CNV | deletion | 26484159 |
nsv349268 | CNV | deletion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
|
|
type 1 diabetes mellitus 5 |
|
|
neural tube defects |
|
|
alzheimer disease |
|
|