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COQ9 coenzyme Q9 [ Homo sapiens (human) ]

Gene ID: 57017, updated on 5-Jan-2020

Summary

Official Symbol
COQ9provided by HGNC
Official Full Name
coenzyme Q9provided by HGNC
Primary source
HGNC:HGNC:25302
See related
Ensembl:ENSG00000088682 MIM:612837
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
COQ10D5; C16orf49
Summary
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
Expression
Ubiquitous expression in heart (RPKM 47.9), kidney (RPKM 39.3) and 25 other tissues See more
Orthologs

Genomic context

See COQ9 in Genome Data Viewer
Location:
16q21
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (57447479..57461270)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57481337..57495187)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene C-X3-C motif chemokine ligand 1 Neighboring gene C-C motif chemokine ligand 17 Neighboring gene cytokine induced apoptosis inhibitor 1 Neighboring gene Sharpr-MPRA regulatory region 5957 Neighboring gene Sharpr-MPRA regulatory region 83 Neighboring gene RNA polymerase II subunit C Neighboring gene docking protein 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434K046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, NADH to ubiquinone 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
 
ubiquinone biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion HDA PubMed 

General protein information

Preferred Names
ubiquinone biosynthesis protein COQ9, mitochondrial
Names
coenzyme Q9 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_027696.1 RefSeqGene

    Range
    5055..18846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020312.4NP_064708.1  ubiquinone biosynthesis protein COQ9, mitochondrial precursor

    See identical proteins and their annotated locations for NP_064708.1

    Status: REVIEWED

    Source sequence(s)
    AK075438, BC064946, BM680448, DB513313
    Consensus CDS
    CCDS32459.1
    UniProtKB/Swiss-Prot
    O75208
    UniProtKB/TrEMBL
    A0A024R6U3
    Related
    ENSP00000262507.5, ENST00000262507.11
    Conserved Domains (1) summary
    cl21709
    Location:102281
    COQ9; COQ9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    57447479..57461270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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