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Protein

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Gene

COQ4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.UniRule annotation1 Publication

Pathwayi: ubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.UniRule annotation
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubiquinone biosynthesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167113-MONOMER.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialUniRule annotation
Alternative name(s):
Coenzyme Q biosynthesis protein 4 homologUniRule annotation
Gene namesi
Name:COQ4UniRule annotation
ORF Names:CGI-92
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19693. COQ4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 7 (COQ10D7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.
See also OMIM:616276
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07335652L → S in COQ10D7. 1 PublicationCorresponds to variant rs786204770dbSNPEnsembl.1
Natural variantiVAR_07335764P → S in COQ10D7. 1 PublicationCorresponds to variant rs766317663dbSNPEnsembl.1
Natural variantiVAR_073358145R → G in COQ10D7. 1 PublicationCorresponds to variant rs774395996dbSNPEnsembl.1
Natural variantiVAR_073359174Missing in COQ10D7. 1 Publication1
Natural variantiVAR_073360240R → C in COQ10D7. 2 PublicationsCorresponds to variant rs143441644dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51117.
MIMi616276. phenotype.
OpenTargetsiENSG00000167113.
PharmGKBiPA134957951.

Polymorphism and mutation databases

BioMutaiCOQ4.
DMDMi226694194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 30MitochondrionUniRule annotationAdd BLAST30
ChainiPRO_000011524031 – 265Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialAdd BLAST235

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei108PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y3A0.
PeptideAtlasiQ9Y3A0.
PRIDEiQ9Y3A0.

PTM databases

iPTMnetiQ9Y3A0.
PhosphoSitePlusiQ9Y3A0.

Expressioni

Tissue specificityi

Expressed ubiquitously, but at high levels in liver, lung and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000167113.
CleanExiHS_COQ4.
ExpressionAtlasiQ9Y3A0. baseline and differential.
GenevisibleiQ9Y3A0. HS.

Organism-specific databases

HPAiHPA042945.

Interactioni

Subunit structurei

Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.UniRule annotation

Protein-protein interaction databases

BioGridi119305. 15 interactors.
IntActiQ9Y3A0. 1 interactor.
STRINGi9606.ENSP00000300452.

Structurei

3D structure databases

ProteinModelPortaliQ9Y3A0.
SMRiQ9Y3A0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COQ4 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3244. Eukaryota.
COG5031. LUCA.
GeneTreeiENSGT00390000003828.
HOGENOMiHOG000194110.
HOVERGENiHBG027006.
InParanoidiQ9Y3A0.
KOiK18586.
OMAiYEQRWEQ.
OrthoDBiEOG091G0KCU.
PhylomeDBiQ9Y3A0.
TreeFamiTF314625.

Family and domain databases

HAMAPiMF_03111. Coq4. 1 hit.
InterProiIPR007715. Coq4.
IPR027540. Coq4_euk.
[Graphical view]
PfamiPF05019. Coq4. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y3A0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG
60 70 80 90 100
LLAAGSAAMA LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ
110 120 130 140 150
ERPRISTSTL DLGKLQSLPE GSLGREYLRF LDVNRVSPDT RAPTRFVDDE
160 170 180 190 200
ELAYVIQRYR EVHDMLHTLL GMPTNILGEI VVKWFEAVQT GLPMCILGAF
210 220 230 240 250
FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR WEQSLRALRE
260
ELGITAPPMH VQGLA
Length:265
Mass (Da):29,657
Last modified:April 14, 2009 - v3
Checksum:iBFD161918B2924E2
GO
Isoform 2 (identifier: Q9Y3A0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:241
Mass (Da):27,043
Checksum:i43BFF1418627F86A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti230P → H in AAD34087 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04882920R → Q.Corresponds to variant rs9697215dbSNPEnsembl.1
Natural variantiVAR_05486150G → A.4 PublicationsCorresponds to variant rs3003601dbSNPEnsembl.1
Natural variantiVAR_07335652L → S in COQ10D7. 1 PublicationCorresponds to variant rs786204770dbSNPEnsembl.1
Natural variantiVAR_07335764P → S in COQ10D7. 1 PublicationCorresponds to variant rs766317663dbSNPEnsembl.1
Natural variantiVAR_073358145R → G in COQ10D7. 1 PublicationCorresponds to variant rs774395996dbSNPEnsembl.1
Natural variantiVAR_073359174Missing in COQ10D7. 1 Publication1
Natural variantiVAR_073360240R → C in COQ10D7. 2 PublicationsCorresponds to variant rs143441644dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0368661 – 24Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU216419 mRNA. Translation: ABW91141.1.
EU216420 mRNA. Translation: ABW91142.1.
EU216421 mRNA. Translation: ABW91143.1.
EU216422 mRNA. Translation: ABW91144.1.
EU216423 mRNA. Translation: ABW91145.1.
AF151850 mRNA. Translation: AAD34087.1.
AK313650 mRNA. Translation: BAG36405.1.
AL359091 Genomic DNA. Translation: CAI13487.1.
CH471090 Genomic DNA. Translation: EAW87776.1.
BC011895 mRNA. Translation: AAH11895.1.
CCDSiCCDS6898.1. [Q9Y3A0-1]
RefSeqiNP_057119.2. NM_016035.4.
UniGeneiHs.98541.

Genome annotation databases

EnsembliENST00000300452; ENSP00000300452; ENSG00000167113. [Q9Y3A0-1]
GeneIDi51117.
KEGGihsa:51117.
UCSCiuc004bur.5. human. [Q9Y3A0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU216419 mRNA. Translation: ABW91141.1.
EU216420 mRNA. Translation: ABW91142.1.
EU216421 mRNA. Translation: ABW91143.1.
EU216422 mRNA. Translation: ABW91144.1.
EU216423 mRNA. Translation: ABW91145.1.
AF151850 mRNA. Translation: AAD34087.1.
AK313650 mRNA. Translation: BAG36405.1.
AL359091 Genomic DNA. Translation: CAI13487.1.
CH471090 Genomic DNA. Translation: EAW87776.1.
BC011895 mRNA. Translation: AAH11895.1.
CCDSiCCDS6898.1. [Q9Y3A0-1]
RefSeqiNP_057119.2. NM_016035.4.
UniGeneiHs.98541.

3D structure databases

ProteinModelPortaliQ9Y3A0.
SMRiQ9Y3A0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119305. 15 interactors.
IntActiQ9Y3A0. 1 interactor.
STRINGi9606.ENSP00000300452.

PTM databases

iPTMnetiQ9Y3A0.
PhosphoSitePlusiQ9Y3A0.

Polymorphism and mutation databases

BioMutaiCOQ4.
DMDMi226694194.

Proteomic databases

PaxDbiQ9Y3A0.
PeptideAtlasiQ9Y3A0.
PRIDEiQ9Y3A0.

Protocols and materials databases

DNASUi51117.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300452; ENSP00000300452; ENSG00000167113. [Q9Y3A0-1]
GeneIDi51117.
KEGGihsa:51117.
UCSCiuc004bur.5. human. [Q9Y3A0-1]

Organism-specific databases

CTDi51117.
DisGeNETi51117.
GeneCardsiCOQ4.
HGNCiHGNC:19693. COQ4.
HPAiHPA042945.
MIMi612898. gene.
616276. phenotype.
neXtProtiNX_Q9Y3A0.
OpenTargetsiENSG00000167113.
PharmGKBiPA134957951.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3244. Eukaryota.
COG5031. LUCA.
GeneTreeiENSGT00390000003828.
HOGENOMiHOG000194110.
HOVERGENiHBG027006.
InParanoidiQ9Y3A0.
KOiK18586.
OMAiYEQRWEQ.
OrthoDBiEOG091G0KCU.
PhylomeDBiQ9Y3A0.
TreeFamiTF314625.

Enzyme and pathway databases

UniPathwayiUPA00232.
BioCyciZFISH:ENSG00000167113-MONOMER.

Miscellaneous databases

ChiTaRSiCOQ4. human.
GeneWikiiCOQ4.
GenomeRNAii51117.
PROiQ9Y3A0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167113.
CleanExiHS_COQ4.
ExpressionAtlasiQ9Y3A0. baseline and differential.
GenevisibleiQ9Y3A0. HS.

Family and domain databases

HAMAPiMF_03111. Coq4. 1 hit.
InterProiIPR007715. Coq4.
IPR027540. Coq4_euk.
[Graphical view]
PfamiPF05019. Coq4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOQ4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3A0
Secondary accession number(s): A8WBK8
, B2R958, Q5T4B8, Q96EW4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: April 14, 2009
Last modified: November 30, 2016
This is version 118 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.