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COQ4 coenzyme Q4 [ Homo sapiens (human) ]

Gene ID: 51117, updated on 10-Dec-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
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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
  • 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?

Phenotypes

Associated conditions

Description Tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome not available
Spastic ataxia 10, autosomal recessive
MedGen: C5882738 OMIM: 620666 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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)

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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.

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