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Aliases for PCMTD1 Gene

Aliases for PCMTD1 Gene

  • Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 1 2 3 5

External Ids for PCMTD1 Gene

Previous GeneCards Identifiers for PCMTD1 Gene

  • GC08M052893
  • GC08M052730
  • GC08M048198

Summaries for PCMTD1 Gene

GeneCards Summary for PCMTD1 Gene

PCMTD1 (Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. An important paralog of this gene is PCMTD2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCMTD1 Gene

Genomics for PCMTD1 Gene

Regulatory Elements for PCMTD1 Gene

Enhancers for PCMTD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCMTD1 on UCSC Golden Path with GeneCards custom track

Promoters for PCMTD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCMTD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCMTD1 Gene

51,817,575 bp from pter
51,899,186 bp from pter
81,612 bases
Minus strand

Genomic View for PCMTD1 Gene

Genes around PCMTD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCMTD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCMTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCMTD1 Gene

Proteins for PCMTD1 Gene

  • Protein details for PCMTD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-L-isoaspartate O-methyltransferase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q96FK9

    Protein attributes for PCMTD1 Gene

    357 amino acids
    Molecular mass:
    40675 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCMTD1 Gene


neXtProt entry for PCMTD1 Gene

Proteomics data for PCMTD1 Gene at MOPED

Post-translational modifications for PCMTD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCMTD1 Gene

No data available for DME Specific Peptides for PCMTD1 Gene

Domains & Families for PCMTD1 Gene

Protein Domains for PCMTD1 Gene

Suggested Antigen Peptide Sequences for PCMTD1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
  • Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
genes like me logo Genes that share domains with PCMTD1: view

No data available for Gene Families for PCMTD1 Gene

Function for PCMTD1 Gene

Phenotypes for PCMTD1 Gene

GenomeRNAi human phenotypes for PCMTD1:
genes like me logo Genes that share phenotypes with PCMTD1: view

Animal Model Products

miRNA for PCMTD1 Gene

miRTarBase miRNAs that target PCMTD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCMTD1 Gene

Localization for PCMTD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCMTD1 Gene

Cytoplasm. Membrane; Lipid-anchor.

Subcellular locations from

Jensen Localization Image for PCMTD1 Gene COMPARTMENTS Subcellular localization image for PCMTD1 gene
Compartment Confidence
cytosol 3
golgi apparatus 3
nucleus 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for PCMTD1 Gene

Pathways & Interactions for PCMTD1 Gene

SuperPathways for PCMTD1 Gene

No Data Available

Interacting Proteins for PCMTD1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: ENSP00000353739 Q96MG8-PCMD1_HUMAN for PCMTD1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for PCMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
genes like me logo Genes that share ontologies with PCMTD1: view

No data available for Pathways by source and SIGNOR curated interactions for PCMTD1 Gene

Drugs & Compounds for PCMTD1 Gene

No Compound Related Data Available

Transcripts for PCMTD1 Gene

Unigene Clusters for PCMTD1 Gene

Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCMTD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - - - -
SP2: - -
SP3: - -

Relevant External Links for PCMTD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCMTD1 Gene

mRNA expression in normal human tissues for PCMTD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCMTD1 Gene

This gene is overexpressed in Lung (34.7) and Testis (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCMTD1 Gene

SOURCE GeneReport for Unigene cluster for PCMTD1 Gene Hs.671268

genes like me logo Genes that share expression patterns with PCMTD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PCMTD1 Gene

Orthologs for PCMTD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCMTD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PCMTD1 35
  • 89.98 (n)
  • 97.75 (a)
  • 98 (a)
(Canis familiaris)
Mammalia PCMTD1 35
  • 95.22 (n)
  • 97.75 (a)
  • 94 (a)
(Mus musculus)
Mammalia Pcmtd1 35
  • 92.62 (n)
  • 98.6 (a)
Pcmtd1 16
Pcmtd1 36
  • 99 (a)
(Pan troglodytes)
Mammalia PCMTD1 35
  • 99.63 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Pcmtd1 35
  • 91.88 (n)
  • 98.88 (a)
(Monodelphis domestica)
Mammalia PCMTD1 36
  • 94 (a)
(Ornithorhynchus anatinus)
Mammalia PCMTD1 36
  • 95 (a)
(Gallus gallus)
Aves PCMTD1 35
  • 86.27 (n)
  • 93 (a)
  • 93 (a)
(Anolis carolinensis)
Reptilia PCMTD1 36
  • 91 (a)
(Danio rerio)
Actinopterygii pcmtd1 35
  • 69.84 (n)
  • 80.11 (a)
wufi15f10 35
pcmtd1 36
  • 80 (a)
(Caenorhabditis elegans)
Secernentea R119.5 36
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
Species with no ortholog for PCMTD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PCMTD1 Gene

Gene Tree for PCMTD1 (if available)
Gene Tree for PCMTD1 (if available)

Paralogs for PCMTD1 Gene

Paralogs for PCMTD1 Gene

(2) SIMAP similar genes for PCMTD1 Gene using alignment to 4 proteins: Pseudogenes for PCMTD1 Gene

genes like me logo Genes that share paralogs with PCMTD1: view

Variants for PCMTD1 Gene

Sequence variations from dbSNP and Humsavar for PCMTD1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs12335014 - 51,820,490(+) CTTTG(A/T)TATCC reference, missense
rs2020431 -- 51,863,573(+) CCTGA(A/G)GCCAG intron-variant
rs2037138 -- 51,892,153(+) ATTAA(C/T)AACCA intron-variant
rs2037139 -- 51,892,324(+) ACACA(C/T)GCAGG intron-variant
rs2078593 -- 51,836,575(-) TAGTT(C/T)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCMTD1 Gene

Variant ID Type Subtype PubMed ID
nsv817615 CNV Gain 22305530
nsv831316 CNV Gain 17160897
nsv824630 CNV Loss 20364138
nsv824632 CNV Gain 20364138
esv1000050 CNV Deletion 20482838
esv1338407 CNV Deletion 17803354
nsv526922 CNV Loss 19592680

Variation tolerance for PCMTD1 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.36; 92.68% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PCMTD1 Gene

Disorders for PCMTD1 Gene

Relevant External Links for PCMTD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for PCMTD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCMTD1 Gene

Publications for PCMTD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms. (PMID: 24474268) Wei X. … Aung T. (Invest. Ophthalmol. Vis. Sci. 2014) 3
  4. Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study. (PMID: 23505305) Day A.C. … Foster P.J. (Br J Ophthalmol 2013) 3
  5. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. (PMID: 23509962) Greliche N. … TrAcgouAt D.A. (BMC Med. Genet. 2013) 3

Products for PCMTD1 Gene

Sources for PCMTD1 Gene