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COQ4 coenzyme Q4 [ Homo sapiens (human) ]

Gene ID: 51117, updated on 10-Dec-2019

Summary

Official Symbol
COQ4provided by HGNC
Official Full Name
coenzyme Q4provided by HGNC
Primary source
HGNC:HGNC:19693
See related
Ensembl:ENSG00000167113 MIM:612898
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; 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

Genomic context

See COQ4 in Genome Data Viewer
Location:
9q34.11
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128322486..128334072)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131084791..131096351)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene TruB pseudouridine synthase family member 2 Neighboring gene uncharacterized LOC105376286 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
Coenzyme Q10 deficiency, primary, 7 Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
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)

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_042101.1 RefSeqGene

    Range
    5001..16565
    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
  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
    Related
    ENSP00000300452.3, ENST00000300452.8
    Conserved Domains (1) summary
    pfam05019
    Location:46258
    Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    128322486..128334072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014792.1XP_016870281.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X1

  2. XM_017014793.1XP_016870282.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X1

RNA

  1. XR_001746316.2 RNA Sequence

  2. XR_929805.3 RNA Sequence

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