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COQ7 coenzyme Q7, hydroxylase [ Homo sapiens (human) ]

Gene ID: 10229, updated on 12-May-2016
Official Symbol
COQ7provided by HGNC
Official Full Name
coenzyme Q7, hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:2244
See related
Ensembl:ENSG00000167186 HPRD:03401; MIM:601683; Vega:OTTHUMG00000131455
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAT5; CLK1; CLK-1; COQ10D8
Summary
The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
Orthologs
Location:
16p12.3
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (19067595..19080095)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19078917..19091417)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1, nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene putative uncharacterized protein encoded by LINC00269 Neighboring gene transmembrane channel like 7 Neighboring gene uncharacterized LOC102723385 Neighboring gene inositol 1,4,5-trisphosphate receptor interacting protein-like 2 Neighboring gene synaptotagmin 17

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extrinsic component of mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
5-demethoxyubiquinone hydroxylase, mitochondrial
Names
5-demethoxyubiquinone hydroxylase
COQ7 coenzyme Q, 7 homolog ubiquinone
DMQ hydroxylase
coenzyme Q biosynthesis protein 7 homolog
coenzyme Q7 homolog, ubiquinone
placental protein KG-20
timing protein clk-1 homolog
ubiquinone biosynthesis monooxygenase COQ7
ubiquinone biosynthesis protein COQ7 homolog

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.

Genomic

  1. NG_046596.1 RefSeqGene

    Range
    5001..17501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190983.1NP_001177912.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001177912.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AI424412, AK024291, AL136647, BC003185
    Consensus CDS
    CCDS53993.1
    UniProtKB/Swiss-Prot
    Q99807
    Related
    ENSP00000442923, OTTHUMP00000256104, ENST00000544894, OTTHUMT00000435817
    Conserved Domains (1) summary
    cd01042
    Location:11178
    DMQH; Demethoxyubiquinone hydroxylase, ferritin-like diiron-binding domain
  2. NM_016138.4NP_057222.2  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_057222.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC099518, AI424412, AK024291, AK315470
    Consensus CDS
    CCDS10574.1
    UniProtKB/Swiss-Prot
    Q99807
    Related
    ENSP00000322316, OTTHUMP00000162157, ENST00000321998, OTTHUMT00000254275
    Conserved Domains (1) summary
    cd01042
    Location:49216
    DMQH; Demethoxyubiquinone hydroxylase, ferritin-like diiron-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    19067595..19080095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_950722.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    19166175..19178695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)