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

    Gene ID: 10229, updated on 17-Jun-2024

    Summary

    Official Symbol
    COQ7provided by HGNC
    Official Full Name
    coenzyme Q7, hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:2244
    See related
    Ensembl:ENSG00000167186 MIM:601683; AllianceGenome:HGNC:2244
    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; HMNR9; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COQ7 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19067614..19083097)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18998449..19010962)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19078936..19091417)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18937597-18938209 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18938210-18938823 Neighboring gene SMG1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:18983611-18984111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7239 Neighboring gene Sharpr-MPRA regulatory region 10247 Neighboring gene transmembrane channel like 7 Neighboring gene RNA, U6 small nuclear 1340, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19041109-19041653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10523 Neighboring gene COQ7 divergent transcript Neighboring gene uncharacterized LOC124903656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19117151-19118009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7242 Neighboring gene ITPRIP like 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in determination of adult lifespan IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of reactive oxygen species metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ubiquinone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquinone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquinone biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     
    part_of ubiquinone biosynthesis complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    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_001357418.1
    NP_001357419.1
    NP_001357420.1
    NP_001357421.1
    NP_001357422.1
    NP_001357423.1
    NP_001357424.1
    NP_057222.2
    XP_047289450.1
    XP_047289451.1
    XP_047289452.1
    XP_047289453.1
    XP_047289454.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_046596.2 RefSeqGene

      Range
      5002..17483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001177912.1

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Related
      ENSP00000442923.2, ENST00000544894.6
      Conserved Domains (1) summary
      pfam03232
      Location:11178
      COQ7; Ubiquinone biosynthesis protein COQ7
    2. NM_001370489.1NP_001357418.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      H3BP28
      Related
      ENSP00000455122.1, ENST00000569127.1
      Conserved Domains (1) summary
      pfam03232
      Location:35202
      COQ7; Ubiquinone biosynthesis protein COQ7
    3. NM_001370490.1NP_001357419.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      H3BP28
      Conserved Domains (1) summary
      pfam03232
      Location:49193
      COQ7; Ubiquinone biosynthesis protein COQ7
    4. NM_001370491.1NP_001357420.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      H3BP28
      Conserved Domains (1) summary
      pfam03232
      Location:35179
      COQ7; Ubiquinone biosynthesis protein COQ7
    5. NM_001370492.1NP_001357421.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Conserved Domains (1) summary
      pfam03232
      Location:11178
      COQ7; Ubiquinone biosynthesis protein COQ7
    6. NM_001370493.1NP_001357422.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Conserved Domains (1) summary
      pfam03232
      Location:11178
      COQ7; Ubiquinone biosynthesis protein COQ7
    7. NM_001370494.1NP_001357423.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Conserved Domains (1) summary
      pfam03232
      Location:11178
      COQ7; Ubiquinone biosynthesis protein COQ7
    8. NM_001370495.1NP_001357424.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      Q8NI45
      Related
      ENSP00000457256.1, ENST00000561858.5
      Conserved Domains (1) summary
      pfam03232
      Location:11155
      COQ7; Ubiquinone biosynthesis protein COQ7
    9. NM_016138.5NP_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
      Consensus CDS
      CCDS10574.1
      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
      UniProtKB/TrEMBL
      H3BP28
      Related
      ENSP00000322316.5, ENST00000321998.10
      Conserved Domains (1) summary
      pfam03232
      Location:49216
      COQ7; Ubiquinone biosynthesis protein COQ7

    RNA

    1. NR_163448.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099518
    2. NR_163449.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099518
    3. NR_163450.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099518

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19067614..19083097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433495.1XP_047289451.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
      UniProtKB/TrEMBL
      H3BP28
    2. XM_047433496.1XP_047289452.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
      UniProtKB/TrEMBL
      H3BP28
    3. XM_047433494.1XP_047289450.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
      UniProtKB/TrEMBL
      H3BP28
    4. XM_047433498.1XP_047289454.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      H3BP28
    5. XM_047433497.1XP_047289453.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      H3BP28

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      18998449..19010962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)