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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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

Chromosome:
8
Start:
51,817,575 bp from pter
End:
51,899,186 bp from pter
Size:
81,612 bases
Orientation:
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:
    Q96MG8-PCMD1_HUMAN
    Recommended name:
    Protein-L-isoaspartate O-methyltransferase domain-containing protein 1
    Protein Accession:
    Q96MG8
    Secondary Accessions:
    • Q96FK9

    Protein attributes for PCMTD1 Gene

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

    Alternative splice isoforms for PCMTD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCMTD1 Gene

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

Q96MG8

UniProtKB/Swiss-Prot:

PCMD1_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 PCMTD1: view

No data available for Gene Families for PCMTD1 Gene

Function for PCMTD1 Gene

Gene Ontology (GO) - Molecular Function for PCMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004719 protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA --
genes like me logo Genes that share ontologies with PCMTD1: view

Phenotypes for PCMTD1 Gene

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

Animal Model Products

CRISPR Products

miRNA for PCMTD1 Gene

miRTarBase miRNAs that target PCMTD1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

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

Gene Ontology (GO) - Cellular Components for PCMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PCMTD1: view

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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000353739%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000344220%0d%0a
Selected Interacting proteins: ENSP00000353739 Q96MG8-PCMD1_HUMAN for PCMTD1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PCMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006479 protein methylation 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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: - -
SP4:
SP5:

Relevant External Links for PCMTD1 Gene

GeneLoc Exon Structure for
PCMTD1
ECgene alternative splicing isoforms for
PCMTD1

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, MaxQB, and MOPED for PCMTD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PCMTD1 Gene:

PCMTD1

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PCMTD1 34
  • 89.98 (n)
  • 97.75 (a)
PCMTD1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCMTD1 34
  • 95.22 (n)
  • 97.75 (a)
PCMTD1 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcmtd1 34
  • 92.62 (n)
  • 98.6 (a)
Pcmtd1 16
Pcmtd1 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCMTD1 34
  • 99.63 (n)
  • 100 (a)
PCMTD1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcmtd1 34
  • 91.88 (n)
  • 98.88 (a)
oppossum
(Monodelphis domestica)
Mammalia PCMTD1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCMTD1 35
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCMTD1 34
  • 86.27 (n)
  • 93 (a)
PCMTD1 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCMTD1 35
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pcmtd1 34
  • 69.84 (n)
  • 80.11 (a)
wufi15f10 34
pcmtd1 35
  • 80 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R119.5 35
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for PCMTD1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for PCMTD1 (if available)
TreeFam:
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.org 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
rs1013621 -- 51,888,831(-) AAATG(A/G)TTGAG intron-variant
rs1013622 -- 51,888,801(-) AAGAC(C/T)GTAGA intron-variant
rs1022315 -- 51,889,792(+) GAATG(C/T)CATTT intron-variant
rs1022316 -- 51,890,147(+) TAGAT(A/C)ATTGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3825n106 CNV deletion 24896259
dgv7215n100 CNV gain 25217958
esv1000050 CNV deletion 20482838
esv1338407 CNV deletion 17803354
esv3543487 CNV deletion 23714750
nsv1075136 CNV deletion 25765185
nsv1078613 CNV duplication 25765185
nsv1110978 OTHER inversion 24896259
nsv1152652 CNV deletion 26484159
nsv526922 CNV loss 19592680
nsv817615 CNV gain 22305530
nsv824630 CNV loss 20364138
nsv824632 CNV gain 20364138
nsv831316 CNV gain 17160897
nsv951429 CNV duplication 24416366
nsv957676 CNV deletion 24416366
nsv967589 CNV duplication 23825009

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)

Relevant External Links for PCMTD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCMTD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCMTD1 Gene

Disorders for PCMTD1 Gene

Relevant External Links for PCMTD1

Genetic Association Database (GAD)
PCMTD1
Human Genome Epidemiology (HuGE) Navigator
PCMTD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCMTD1

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 46 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65
  5. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G. … Cagney G. (Sci. Rep. 2015) 3 65

Products for PCMTD1 Gene

Sources for PCMTD1 Gene

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