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Aliases for PCMT1 Gene

Aliases for PCMT1 Gene

  • Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase 2 3
  • Protein L-Isoaspartyl/D-Aspartyl Methyltransferase 3 4
  • L-Isoaspartyl Protein Carboxyl Methyltransferase 3 4
  • Protein-Beta-Aspartate Methyltransferase 3 4
  • EC 2.1.1.77 4 63
  • PIMT 3 4
  • EC 2.1.1 63

External Ids for PCMT1 Gene

Previous GeneCards Identifiers for PCMT1 Gene

  • GC06P149632
  • GC06P149966
  • GC06P150101
  • GC06P150163
  • GC06P150112
  • GC06P150070
  • GC06P147636

Summaries for PCMT1 Gene

Entrez Gene Summary for PCMT1 Gene

  • 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]

GeneCards Summary for PCMT1 Gene

PCMT1 (Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase) is a Protein Coding gene. Diseases associated with PCMT1 include premature ovarian failure and neural tube defects. GO annotations related to this gene include S-adenosylmethionine-dependent methyltransferase activity and protein-L-isoaspartate (D-aspartate) O-methyltransferase activity.

UniProtKB/Swiss-Prot for PCMT1 Gene

  • Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein.

Gene Wiki entry for PCMT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCMT1 Gene

Genomics for PCMT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PCMT1 Gene

Chromosome:
6
Start:
149,749,443 bp from pter
End:
149,811,421 bp from pter
Size:
61,979 bases
Orientation:
Plus strand

Genomic View for PCMT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCMT1 Gene

No data available for Regulatory Elements for PCMT1 Gene

Proteins for PCMT1 Gene

  • Protein details for PCMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22061-PIMT_HUMAN
    Recommended name:
    Protein-L-isoaspartate(D-aspartate) O-methyltransferase
    Protein Accession:
    P22061
    Secondary Accessions:
    • A8K109
    • J3KP72
    • Q14661
    • Q16556
    • Q5VYC1
    • Q5VYC2
    • Q93061
    • Q96II9
    • Q99625
    • Q9BQV7
    • Q9BQV8
    • Q9NP03

    Protein attributes for PCMT1 Gene

    Size:
    227 amino acids
    Molecular mass:
    24636 Da
    Quaternary structure:
    • Monomer
    SequenceCaution:
    • Sequence=EAW47786.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCMT1 Gene

    Alternative splice isoforms for PCMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCMT1 Gene

Proteomics data for PCMT1 Gene at MOPED

Post-translational modifications for PCMT1 Gene

  • Ubiquitination at Lys 4, Lys 105, and Lys 206
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PCMT1 Gene

Protein Domains for PCMT1 Gene

Suggested Antigen Peptide Sequences for PCMT1 Gene

Graphical View of Domain Structure for InterPro Entry

P22061

UniProtKB/Swiss-Prot:

PIMT_HUMAN :
  • Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
Family:
  • Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
genes like me logo Genes that share domains with PCMT1: view

No data available for Gene Families for PCMT1 Gene

Function for PCMT1 Gene

Molecular function for PCMT1 Gene

GENATLAS Biochemistry:
L-isoaspartyl/D-aspartyl methyltransferase,widely expressed
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + protein L-isoaspartate = S-adenosyl-L-homocysteine + protein L-isoaspartate alpha-methyl ester
UniProtKB/Swiss-Prot Function:
Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein.

Enzyme Numbers (IUBMB) for PCMT1 Gene

Gene Ontology (GO) - Molecular Function for PCMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004719 protein-L-isoaspartate (D-aspartate) O-methyltransferase activity TAS 8074695
GO:0005515 protein binding IPI 25416956
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity --
genes like me logo Genes that share ontologies with PCMT1: view
genes like me logo Genes that share phenotypes with PCMT1: view

Animal Models for PCMT1 Gene

MGI Knock Outs for PCMT1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCMT1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PCMT1 Gene

Localization for PCMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCMT1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCMT1 Gene COMPARTMENTS Subcellular localization image for PCMT1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PCMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum TAS 1339271
GO:0070062 extracellular exosome IDA 23376485
GO:1903561 extracellular vesicle IDA 24769233
genes like me logo Genes that share ontologies with PCMT1: view

Pathways & Interactions for PCMT1 Gene

SuperPathways for PCMT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process --
GO:0006479 protein methylation TAS 3355545
GO:0030091 protein repair TAS 8074695
GO:0046498 S-adenosylhomocysteine metabolic process --
GO:0046500 S-adenosylmethionine metabolic process --
genes like me logo Genes that share ontologies with PCMT1: view

No data available for Pathways by source and SIGNOR curated interactions for PCMT1 Gene

Drugs & Compounds for PCMT1 Gene

(2) Drugs for PCMT1 Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma Target 0

(1) Additional Compounds for PCMT1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
aspartate
genes like me logo Genes that share compounds with PCMT1: view

Transcripts for PCMT1 Gene

Unigene Clusters for PCMT1 Gene

Protein-L-isoaspartate (D-aspartate) O-methyltransferase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCMT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCMT1 Gene

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: - - - - - - - - - -

Relevant External Links for PCMT1 Gene

GeneLoc Exon Structure for
PCMT1
ECgene alternative splicing isoforms for
PCMT1

Expression for PCMT1 Gene

mRNA expression in normal human tissues for PCMT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCMT1 Gene



SOURCE GeneReport for Unigene cluster for PCMT1 Gene Hs.279257

genes like me logo Genes that share expression patterns with PCMT1: view

Protein tissue co-expression partners for PCMT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PCMT1 Gene

Orthologs for PCMT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCMT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCMT1 35
  • 93.25 (n)
  • 96.48 (a)
PCMT1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCMT1 35
  • 93.52 (n)
  • 96.11 (a)
PCMT1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCMT1 35
  • 99.88 (n)
  • 99.65 (a)
PCMT1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcmt1 16
Pcmt1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCMT1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCMT1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCMT1 35
  • 86.37 (n)
  • 93.33 (a)
PCMT1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCMT1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcmt1 35
  • 81.93 (n)
  • 91.11 (a)
Str.12222 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6342 35
zebrafish
(Danio rerio)
Actinopterygii pcmt 35
  • 75.85 (n)
  • 84.89 (a)
pcmt 36
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1437 35
fruit fly
(Drosophila melanogaster)
Insecta Pcmt 37
  • 56 (a)
Pcmt 35
  • 56.12 (n)
  • 57.34 (a)
Pcmt 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000457 35
  • 54.45 (n)
  • 56.11 (a)
worm
(Caenorhabditis elegans)
Secernentea pcm-1 37
  • 52 (a)
pcm-1 35
  • 57.14 (n)
  • 53.12 (a)
pcm-1 36
  • 52 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PIMT1 35
  • 54.81 (n)
  • 54.33 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.817 35
rice
(Oryza sativa)
Liliopsida Os.6061 35
Os08g0557000 35
  • 53.67 (n)
  • 52.29 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1090 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05078 35
  • 50.23 (n)
  • 48.42 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pcm2 35
  • 51.04 (n)
  • 46.87 (a)
Species with no ortholog for PCMT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCMT1 Gene

ENSEMBL:
Gene Tree for PCMT1 (if available)
TreeFam:
Gene Tree for PCMT1 (if available)

Paralogs for PCMT1 Gene

No data available for Paralogs for PCMT1 Gene

Variants for PCMT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PCMT1 Gene

P22061-PIMT_HUMAN
The allele frequencies for the polymorphism at codon 120 differ between ethnic groups; in the Caucasian population Ile-120 is present at a frequency of 0.45, while it is found at a frequency of 0.88 and 0.81 in the Asian and the African populations respectively. Val-120 is found at a frequency of 0.55 in the Caucasians, 0.12 and 0.19 in the Asian and African populations respectively. The Ile-120 variant has higher specific activity and thermostability than the Val-120 variant. The Val-120 variant has a higher affinity for protein substrates

Sequence variations from dbSNP and Humsavar for PCMT1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs4816 - 149,793,609(+) ACTCA(A/G)TAAAT missense, reference
rs951864 -- 149,757,366(-) CCCCT(A/C)CTACA intron-variant
rs1112729 -- 149,766,491(-) GTTGG(G/T)GGTTA intron-variant
rs1112730 -- 149,766,383(-) GCCAA(C/T)GATTT intron-variant
rs1141566 -- 149,790,533(-) AAGAA(A/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCMT1 Gene

Variant ID Type Subtype PubMed ID
nsv886762 CNV Loss 21882294
esv2732861 CNV Deletion 23290073
esv2678537 CNV Deletion 23128226
esv2600122 CNV Deletion 19546169
esv2259693 CNV Deletion 18987734
dgv1070e201 CNV Deletion 23290073
esv2732864 CNV Deletion 23290073
nsv349268 CNV Loss 16902084
nsv886763 CNV Loss 21882294
nsv886764 CNV Loss 21882294

Variation tolerance for PCMT1 Gene

Residual Variation Intolerance Score: 72.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCMT1 Gene

HapMap Linkage Disequilibrium report
PCMT1
Human Gene Mutation Database (HGMD)
PCMT1

Disorders for PCMT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PCMT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure
  • premature menopause
neural tube defects
  • spina bifida
- elite association
Search PCMT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PCMT1

Genetic Association Database (GAD)
PCMT1
Human Genome Epidemiology (HuGE) Navigator
PCMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCMT1
genes like me logo Genes that share disorders with PCMT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCMT1 Gene

Publications for PCMT1 Gene

  1. Assignment of the protein L-isoaspartate (D-aspartate) O-methyltransferase gene (PCMT1) to human chromosome bands 6q24-->q25 with radiation hybrid mapping. (PMID: 10343128) DeVry C.G. … Clarke S. (Cytogenet. Cell Genet. 1999) 2 23 67
  2. The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10. (PMID: 1478665) MacLaren D.C. … Lusis A.J. (Genomics 1992) 2 23 67
  3. Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure. (PMID: 18582870) Pyun J.A. … Kwack K. (Fertil. Steril. 2009) 23 67
  4. The V119I polymorphism in protein L-isoaspartate O-methyltransferase alters the substrate-binding interface. (PMID: 19801578) Rutherford K. … Daggett V. (Protein Eng. Des. Sel. 2009) 23 67
  5. High-performance liquid chromatographic method to measure protein L-isoaspartyl/D-aspartyl o-methyltransferase activity in cell lysates. (PMID: 18951867) Furuchi T. … Homma H. (Anal. Biochem. 2009) 23 67

Products for PCMT1 Gene

Sources for PCMT1 Gene

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