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Aliases for COMTD1 Gene

Aliases for COMTD1 Gene

  • Catechol-O-Methyltransferase Domain Containing 1 2 3 5
  • EC 2.1.1.- 4

External Ids for COMTD1 Gene

Previous GeneCards Identifiers for COMTD1 Gene

  • GC10M076339
  • GC10M076663
  • GC10M076993
  • GC10M070992

Summaries for COMTD1 Gene

GeneCards Summary for COMTD1 Gene

COMTD1 (Catechol-O-Methyltransferase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include O-methyltransferase activity.

UniProtKB/Swiss-Prot for COMTD1 Gene

  • Putative O-methyltransferase.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMTD1 Gene

Genomics for COMTD1 Gene

Regulatory Elements for COMTD1 Gene

Enhancers for COMTD1 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
GH10G075207 1.7 Ensembl ENCODE dbSUPER 6.6 +26.0 25993 6.0 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 ZNF503-AS1 KAT6B COMTD1 VDAC2 PIR38247
GH10G075232 1.4 ENCODE dbSUPER 7.8 +1.3 1254 3.6 HDGF PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF207 DUSP13 KAT6B COMTD1 ZNF503-AS1 VDAC2
GH10G075222 1.4 Ensembl ENCODE dbSUPER 7.4 +11.0 10967 5.3 ELF3 FOXA2 RB1 ARID4B RAD21 SCRT2 DEK ZNF263 ZNF654 ZNF362 ZNF503-AS1 DUPD1 COMTD1 VDAC2 PPIAP13
GH10G075201 1.3 Ensembl ENCODE dbSUPER 7.6 +33.5 33498 2.2 ZNF146 KLF1 FOXA2 JUN MAX ZNF223 KLF17 FEZF1 THRB ZNF664 DUSP13 COMTD1 VDAC2 PIR38247
GH10G075229 1.2 ENCODE dbSUPER 7.8 +4.9 4926 3.1 HDAC1 HDGF PKNOX1 ATF1 ARNT AGO1 WRNIP1 ARID4B SIN3A ZNF2 ZNF503-AS1 COMTD1 DUSP13 PPIAP13 VDAC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COMTD1 on UCSC Golden Path with GeneCards custom track

Promoters for COMTD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000030055 857 2001 HDGF PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF207

Genomic Location for COMTD1 Gene

Chromosome:
10
Start:
75,233,969 bp from pter
End:
75,236,057 bp from pter
Size:
2,089 bases
Orientation:
Minus strand

Genomic View for COMTD1 Gene

Genes around COMTD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMTD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMTD1 Gene

Proteins for COMTD1 Gene

  • Protein details for COMTD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VU5-CMTD1_HUMAN
    Recommended name:
    Catechol O-methyltransferase domain-containing protein 1
    Protein Accession:
    Q86VU5
    Secondary Accessions:
    • Q8TE79

    Protein attributes for COMTD1 Gene

    Size:
    262 amino acids
    Molecular mass:
    28809 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for COMTD1 Gene

neXtProt entry for COMTD1 Gene

Post-translational modifications for COMTD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COMTD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COMTD1 Gene

Domains & Families for COMTD1 Gene

Protein Domains for COMTD1 Gene

Suggested Antigen Peptide Sequences for COMTD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86VU5

UniProtKB/Swiss-Prot:

CMTD1_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
genes like me logo Genes that share domains with COMTD1: view

Function for COMTD1 Gene

Molecular function for COMTD1 Gene

UniProtKB/Swiss-Prot Function:
Putative O-methyltransferase.

Enzyme Numbers (IUBMB) for COMTD1 Gene

Gene Ontology (GO) - Molecular Function for COMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008168 methyltransferase activity IEA --
GO:0008171 O-methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with COMTD1: view
genes like me logo Genes that share phenotypes with COMTD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COMTD1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COMTD1 Gene

Localization for COMTD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMTD1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COMTD1 gene
Compartment Confidence
mitochondrion 3
plasma membrane 2
extracellular 2
cytosol 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for COMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COMTD1: view

Pathways & Interactions for COMTD1 Gene

SuperPathways for COMTD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COMTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with COMTD1: view

No data available for Pathways by source and SIGNOR curated interactions for COMTD1 Gene

Drugs & Compounds for COMTD1 Gene

(4) Drugs for COMTD1 Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tolcapone Approved, Withdrawn Pharma COMT inhibitor, COMT inhibitor; also inhibits transthyretin aggregation 19
Feruloyl Coenzyme A Experimental Pharma Target 0
s-adenosylhomocysteine Experimental Pharma Target 0
Sinapoyl Coenzyme A Experimental Pharma Target 0

(1) ApexBio Compounds for COMTD1 Gene

Compound Action Cas Number
Tolcapone COMT inhibitor 134308-13-7
genes like me logo Genes that share compounds with COMTD1: view

Drug Products

Transcripts for COMTD1 Gene

Unigene Clusters for COMTD1 Gene

Catechol-O-methyltransferase domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COMTD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - -
SP2: -
SP3: - - - - - - -
SP4: -
SP5:
SP6:

Relevant External Links for COMTD1 Gene

GeneLoc Exon Structure for
COMTD1
ECgene alternative splicing isoforms for
COMTD1

Expression for COMTD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COMTD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COMTD1 Gene

This gene is overexpressed in Pancreas (x6.9) and Esophagus - Mucosa (x4.6).

Protein differential expression in normal tissues from HIPED for COMTD1 Gene

This gene is overexpressed in Islet of Langerhans (10.9) and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COMTD1 Gene



Protein tissue co-expression partners for COMTD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COMTD1 Gene:

COMTD1

SOURCE GeneReport for Unigene cluster for COMTD1 Gene:

Hs.355333

Evidence on tissue expression from TISSUES for COMTD1 Gene

  • Nervous system(4.2)
  • Liver(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with COMTD1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COMTD1 Gene

Orthologs for COMTD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COMTD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMTD1 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia COMTD1 34 35
  • 88.55 (n)
cow
(Bos Taurus)
Mammalia COMTD1 34 35
  • 85.5 (n)
rat
(Rattus norvegicus)
Mammalia Comtd1 34
  • 84.35 (n)
mouse
(Mus musculus)
Mammalia Comtd1 34 16 35
  • 84.22 (n)
oppossum
(Monodelphis domestica)
Mammalia COMTD1 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMTD1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMTD1 34 35
  • 54.56 (n)
lizard
(Anolis carolinensis)
Reptilia COMTD1 35
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii comtd1 34 35
  • 55.13 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8831 34
worm
(Caenorhabditis elegans)
Secernentea comt-5 34 35
  • 47.19 (n)
comt-2 35
  • 37 (a)
OneToMany
comt-4 35
  • 36 (a)
OneToMany
comt-3 35
  • 33 (a)
OneToMany
comt-1 35
  • 12 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61990 34
  • 46.24 (n)
rice
(Oryza sativa)
Liliopsida Os08g0154000 34
  • 46.51 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6150 34
wheat
(Triticum aestivum)
Liliopsida Ta.4917 34
Species where no ortholog for COMTD1 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)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)

Evolution for COMTD1 Gene

ENSEMBL:
Gene Tree for COMTD1 (if available)
TreeFam:
Gene Tree for COMTD1 (if available)

Paralogs for COMTD1 Gene

No data available for Paralogs for COMTD1 Gene

Variants for COMTD1 Gene

Sequence variations from dbSNP and Humsavar for COMTD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000256908 -- 75,234,371(+) TCTCG(A/G)AGGGA intron-variant
rs1000309484 -- 75,234,624(+) GGCGA(A/G)GATGC reference, missense
rs1000546971 -- 75,235,525(+) CCCAG(A/G)GAGGG intron-variant
rs1000653219 -- 75,235,993(+) CAGGT(C/G)TCGGA utr-variant-5-prime
rs1001442998 -- 75,235,087(+) GCTCC(-/G)GGGGG reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for COMTD1 Gene

Variant ID Type Subtype PubMed ID
dgv927n100 CNV gain 25217958
dgv928n100 CNV gain 25217958
nsv831913 CNV loss 17160897

Variation tolerance for COMTD1 Gene

Gene Damage Index Score: 2.13; 38.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COMTD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMTD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMTD1 Gene

Disorders for COMTD1 Gene

Relevant External Links for COMTD1

Genetic Association Database (GAD)
COMTD1
Human Genome Epidemiology (HuGE) Navigator
COMTD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMTD1

No disorders were found for COMTD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COMTD1 Gene

Publications for COMTD1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64

Products for COMTD1 Gene

Sources for COMTD1 Gene

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