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

Gene ID: 10229, updated on 8-Jul-2018
Official Symbol
COQ7provided by HGNC
Official Full Name
coenzyme Q7, hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:2244
See related
Ensembl:ENSG00000167186 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]
Expression
Ubiquitous expression in prostate (RPKM 5.8), thyroid (RPKM 5.3) and 25 other tissues See more
Orthologs
See COQ7 in Genome Data Viewer
Location:
16p12.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC107984844 Neighboring gene RNA, U6 small nuclear 1340, pseudogene Neighboring gene transmembrane channel like 7 Neighboring gene uncharacterized LOC102723385 Neighboring gene ITPRIP like 2 Neighboring gene synaptotagmin 17 Neighboring gene uncharacterized LOC105371114

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial ATP synthesis coupled electron transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
5-demethoxyubiquinone hydroxylase, mitochondrial
Names
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
NP_001177912.1
NP_057222.2
XP_024305908.1
XP_024305909.1

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
    ENSP00000442923.2, OTTHUMP00000256104, ENST00000544894.6, OTTHUMT00000435817
    Conserved Domains (1) summary
    pfam03232
    Location:11178
    COQ7; Ubiquinone biosynthesis protein COQ7
  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
    ENSP00000322316.5, OTTHUMP00000162157, ENST00000321998.9, OTTHUMT00000254275
    Conserved Domains (1) summary
    pfam03232
    Location:49216
    COQ7; Ubiquinone biosynthesis protein COQ7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450140.1XP_024305908.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

    Related
    ENSP00000455122.1, ENST00000569127.1
    Conserved Domains (1) summary
    pfam03232
    Location:35202
    COQ7; Ubiquinone biosynthesis protein COQ7
  2. XM_024450141.1XP_024305909.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X2

    Conserved Domains (1) summary
    pfam03232
    Location:11178
    COQ7; Ubiquinone biosynthesis protein COQ7

RNA

  1. XR_950722.3 RNA Sequence

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