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Protein

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Gene

COQ4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processUbiquinone biosynthesis

Enzyme and pathway databases

UniPathwayi
UPA00232

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

EuPathDBiHostDB:ENSG00000167113.10
HGNCiHGNC:19693 COQ4
MIMi612898 gene
neXtProtiNX_Q9Y3A0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs786204770EnsemblClinVar.1
Natural variantiVAR_07335764P → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs766317663EnsemblClinVar.1
Natural variantiVAR_073358145R → G in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs774395996EnsemblClinVar.1
Natural variantiVAR_073359174Missing in COQ10D7. 1 Publication1
Natural variantiVAR_073360240R → C in COQ10D7. 2 PublicationsCorresponds to variant dbSNP:rs143441644EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi51117
MalaCardsiCOQ4
MIMi616276 phenotype
OpenTargetsiENSG00000167113
Orphaneti457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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
ProteomicsDBi85990
85991 [Q9Y3A0-2]

PTM databases

iPTMnetiQ9Y3A0
PhosphoSitePlusiQ9Y3A0

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000167113 Expressed in 193 organ(s), highest expression level in right uterine tube
CleanExiHS_COQ4
ExpressionAtlasiQ9Y3A0 baseline and differential
GenevisibleiQ9Y3A0 HS

Organism-specific databases

HPAiHPA021406
HPA042945

Interactioni

Subunit structurei

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

Binary interactionsi

Protein-protein interaction databases

BioGridi119305, 15 interactors
ComplexPortaliCPX-3642 CoQ biosynthetic complex
IntActiQ9Y3A0, 9 interactors
STRINGi9606.ENSP00000300452

Structurei

3D structure databases

ProteinModelPortaliQ9Y3A0
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
OMAiVTPDTRE
OrthoDBiEOG091G0KCU
PhylomeDBiQ9Y3A0
TreeFamiTF314625

Family and domain databases

HAMAPiMF_03111 Coq4, 1 hit
InterProiView protein in InterPro
IPR007715 Coq4
IPR027540 Coq4_euk
PANTHERiPTHR12922 PTHR12922, 1 hit
PTHR12922:SF7 PTHR12922:SF7, 1 hit
PfamiView protein in Pfam
PF05019 Coq4, 1 hit

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T4B9Q5T4B9_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ4
151Annotation score:
V9GY32V9GY32_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ4
96Annotation score:
V9GZ09V9GZ09_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ4
86Annotation score:

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 dbSNP:rs9697215EnsemblClinVar.1
Natural variantiVAR_05486150G → A4 PublicationsCorresponds to variant dbSNP:rs3003601Ensembl.1
Natural variantiVAR_07335652L → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs786204770EnsemblClinVar.1
Natural variantiVAR_07335764P → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs766317663EnsemblClinVar.1
Natural variantiVAR_073358145R → G in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs774395996EnsemblClinVar.1
Natural variantiVAR_073359174Missing in COQ10D7. 1 Publication1
Natural variantiVAR_073360240R → C in COQ10D7. 2 PublicationsCorresponds to variant dbSNP:rs143441644EnsemblClinVar.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 No translation available.
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

Similar proteinsi

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 No translation available.
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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119305, 15 interactors
ComplexPortaliCPX-3642 CoQ biosynthetic complex
IntActiQ9Y3A0, 9 interactors
STRINGi9606.ENSP00000300452

PTM databases

iPTMnetiQ9Y3A0
PhosphoSitePlusiQ9Y3A0

Polymorphism and mutation databases

BioMutaiCOQ4
DMDMi226694194

Proteomic databases

PaxDbiQ9Y3A0
PeptideAtlasiQ9Y3A0
PRIDEiQ9Y3A0
ProteomicsDBi85990
85991 [Q9Y3A0-2]

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
EuPathDBiHostDB:ENSG00000167113.10
GeneCardsiCOQ4
HGNCiHGNC:19693 COQ4
HPAiHPA021406
HPA042945
MalaCardsiCOQ4
MIMi612898 gene
616276 phenotype
neXtProtiNX_Q9Y3A0
OpenTargetsiENSG00000167113
Orphaneti457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
PharmGKBiPA134957951
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayi
UPA00232

Miscellaneous databases

ChiTaRSiCOQ4 human
GeneWikiiCOQ4
GenomeRNAii51117
PROiPR:Q9Y3A0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167113 Expressed in 193 organ(s), highest expression level in right uterine tube
CleanExiHS_COQ4
ExpressionAtlasiQ9Y3A0 baseline and differential
GenevisibleiQ9Y3A0 HS

Family and domain databases

HAMAPiMF_03111 Coq4, 1 hit
InterProiView protein in InterPro
IPR007715 Coq4
IPR027540 Coq4_euk
PANTHERiPTHR12922 PTHR12922, 1 hit
PTHR12922:SF7 PTHR12922:SF7, 1 hit
PfamiView protein in Pfam
PF05019 Coq4, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOQ4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3A0
Secondary accession number(s): A8WBK8
, B2R958, Q5T4B8, Q96EW4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: April 14, 2009
Last modified: November 7, 2018
This is version 131 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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