COMTD1 catechol-O-methyltransferase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COMTD1provided by HGNC
Official Full Name: catechol-O-methyltransferase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:26309
See related: Ensembl:ENSG00000165644 AllianceGenome:HGNC:26309
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable S-adenosylmethionine-dependent methyltransferase activity. Predicted to be involved in methylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in colon (RPKM 11.0), stomach (RPKM 8.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (75233641..75235957, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (76107149..76109465, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (76993399..76995715, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables S-adenosylmethionine-dependent methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in methylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: catechol O-methyltransferase domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_144589.4 → NP_653190.2 catechol O-methyltransferase domain-containing protein 1

See identical proteins and their annotated locations for NP_653190.2

Status: VALIDATED

Source sequence(s)

AK302283, AL390034, BC047774

Consensus CDS

CCDS7349.1

UniProtKB/Swiss-Prot

Q86VU5, Q8TE79

UniProtKB/TrEMBL

A8K337

Related

ENSP00000361616.3, ENST00000372538.8

Conserved Domains (1) summary

cl17173
Location:60 → 261

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...