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    COQ4 coenzyme Q4 [ Homo sapiens (human) ]

    Gene ID: 51117, updated on 28-Oct-2024

    Summary

    Official Symbol
    COQ4provided by HGNC
    Official Full Name
    coenzyme Q4provided by HGNC
    Primary source
    HGNC:HGNC:19693
    See related
    Ensembl:ENSG00000167113 MIM:612898; AllianceGenome:HGNC:19693
    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
    CGI-92; SPAX10; COQ10D7
    Summary
    This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in duodenum (RPKM 20.6), thyroid (RPKM 18.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COQ4 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128322839..128334072)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140529941..140541174)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131085118..131096351)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene golgin A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29077 Neighboring gene SWI5 homologous recombination repair protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131061384-131061884 Neighboring gene Sharpr-MPRA regulatory region 12606 Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene uncharacterized LOC105376286 Neighboring gene TruB pseudouridine synthase family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131095861-131096360 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131099538-131099696 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131102183-131102824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29079 Neighboring gene tRNA-Arg (anticodon TCT) 3-1 Neighboring gene solute carrier family 27 member 4 Neighboring gene TMSB4X pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-methoxy-4-hydroxy-5-decaprenylbenzoic acid decarboxylase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 
    involved_in ubiquinone biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ubiquinone biosynthesis complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
    Names
    coenzyme Q biosynthesis protein 4 homolog
    coenzyme Q4 homolog

    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_042101.2 RefSeqGene

      Range
      5002..16235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305942.2NP_001292871.2  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons, one of which causes a frameshift in the 5' coding region compared to variant 1. It encodes isoform 2, which has a shorter and unique C-terminus compared to isoform 1.
      Source sequence(s)
      AL359091
      Conserved Domains (1) summary
      cl02093
      Location:4667
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4
    2. NM_016035.5NP_057119.3  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL359091
      Consensus CDS
      CCDS6898.1
      UniProtKB/Swiss-Prot
      A8WBK8, B2R958, Q5T4B8, Q96EW4, Q9Y3A0
      Related
      ENSP00000300452.3, ENST00000300452.8
      Conserved Domains (1) summary
      pfam05019
      Location:46258
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128322839..128334072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014792.2XP_016870281.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl02093
      Location:4667
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4
    2. XM_047423449.1XP_047279405.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    3. XM_047423448.1XP_047279404.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X1

    4. XM_017014793.2XP_016870282.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl02093
      Location:4667
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140529941..140541174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363059.1XP_054219034.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    2. XM_054363058.1XP_054219033.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    3. XM_054363057.1XP_054219032.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X1

    4. XM_054363060.1XP_054219035.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2