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Entry version 179 (12 Aug 2020)
Sequence version 2 (28 Nov 2002)
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Protein

Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial

Gene

COQ6

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoic acid (HHB) to 3-hexaprenyl-4,5-dihydroxybenzoic acid (DHHB). The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6 (By similarity). Is able to perform the deamination reaction at C4 of 3-hexaprenyl-4-amino-5-hydroxybenzoic acid (HHAB) to produce DHHB when expressed in yeast cells lacking COQ9, even if utilization of para-aminobenzoic acid (pABA) involving C4-deamination seems not to occur in bacteria, plants and mammals, where only C5 hydroxylation of HHB has been shown (PubMed:26260787).UniRule annotation1 Publication

Caution

Based on current literature, utilization of para-aminobenzoic acid (pABA) involving C4-deamination is still unclear, and seems not to occur in bacteria, plants and mammals where only C5 hydroxylation of HHB has been shown, even if human COQ6 is able to support C4-deamination in yeast cells lacking COQ9.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FADUniRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processUbiquinone biosynthesis
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000119723-MONOMER

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9Y2Z9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2142789, Ubiquinol biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00232

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ubiquinone biosynthesis monooxygenase COQ6, mitochondrialUniRule annotation (EC:1.14.13.-UniRule annotation)
Alternative name(s):
Coenzyme Q10 monooxygenase 6UniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COQ6UniRule annotation
ORF Names:CGI-10
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000119723.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20233, COQ6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614647, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y2Z9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Coenzyme Q10 deficiency, primary, 6 (COQ10D6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068216255G → R in COQ10D6. 1 PublicationCorresponds to variant dbSNP:rs1057519350EnsemblClinVar.1
Natural variantiVAR_078122261P → L in COQ10D6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371260604Ensembl.1
Natural variantiVAR_068218353A → D in COQ10D6. 1 PublicationCorresponds to variant dbSNP:rs397514479EnsemblClinVar.1
Mutations in COQ6 may play a role in susceptibility to Schwannomatosis, a cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
51004

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
COQ6

MalaCards human disease database

More...
MalaCardsi
COQ6
MIMi614650, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119723

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
280406, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
93921, Schwannomatosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134940980

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y2Z9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COQ6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
26006952

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 28MitochondrionSequence analysisAdd BLAST28
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000020758329 – 468Ubiquinone biosynthesis monooxygenase COQ6, mitochondrialAdd BLAST440

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y2Z9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y2Z9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y2Z9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y2Z9

PeptideAtlas

More...
PeptideAtlasi
Q9Y2Z9

PRoteomics IDEntifications database

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PRIDEi
Q9Y2Z9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
6528
69762
85949 [Q9Y2Z9-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y2Z9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y2Z9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000119723, Expressed in right adrenal gland and 181 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y2Z9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y2Z9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000119723, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity).

Interacts with COQ8B and COQ7 (PubMed:24270420).

UniRule annotation1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
119212, 35 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3642, CoQ biosynthetic complex

Protein interaction database and analysis system

More...
IntActi
Q9Y2Z9, 61 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000333946

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y2Z9, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the UbiH/COQ6 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3855, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000015152

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y2Z9

KEGG Orthology (KO)

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KOi
K06126

Identification of Orthologs from Complete Genome Data

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OMAi
TREWDYL

Database of Orthologous Groups

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OrthoDBi
655400at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y2Z9

TreeFam database of animal gene trees

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TreeFami
TF105772

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.50.50.60, 2 hits

HAMAP database of protein families

More...
HAMAPi
MF_03193, COQ6_monooxygenase, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002938, FAD-bd
IPR036188, FAD/NAD-bd_sf
IPR018168, Ubi_Hdrlase_CS
IPR010971, UbiH/COQ6
IPR000689, UbQ_mOase_COQ6

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01494, FAD_binding_3, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51905, SSF51905, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01989, COQ6, 1 hit
TIGR01988, Ubi-OHases, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01304, UBIH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2Z9-1) [UniParc]FASTAAdd to basket
Also known as: a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM
60 70 80 90 100
ACALGYDIHF HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS
110 120 130 140 150
FGAWDHICNM RYRAFRRMQV WDACSEALIM FDKDNLDDMG YIVENDVIMH
160 170 180 190 200
ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF PMADSSPWVH ITLGDGSTFQ
210 220 230 240 250
TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE ATENNVAWQR
260 270 280 290 300
FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD
310 320 330 340 350
ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL
360 370 380 390 400
GHAAEYVRPR VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG
410 420 430 440 450
KDLGSVSHLT GYETERQRHN TALLAATDLL KRLYSTSASP LVLLRTWGLQ
460
ATNAVSPLKE QIMAFASK
Length:468
Mass (Da):50,870
Last modified:November 28, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9613629BA501B60B
GO
Isoform 2 (identifier: Q9Y2Z9-2) [UniParc]FASTAAdd to basket
Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
     2-119: AARLVSRCGA...MRYRAFRRMQ → IFTFMTRKSC...FPLALQRFSV
     460-461: Missing.

Show »
Length:391
Mass (Da):42,874
Checksum:iAC06474D2687E80E
GO
Isoform 3 (identifier: Q9Y2Z9-3) [UniParc]FASTAAdd to basket
Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     2-54: AARLVSRCGA...LVGAAMACAL → RGQGPPLSSFGVWLASRAASDPSRPRRQ

Show »
Length:443
Mass (Da):48,593
Checksum:i61F3E8B19575633D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SFJ1A0A0D9SFJ1_HUMAN
Coenzyme Q6 homolog, monooxygenase ...
COQ6 hCG_21715
393Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3A1G3V3A1_HUMAN
Ubiquinone biosynthesis monooxygena...
COQ6
262Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V434G3V434_HUMAN
Ubiquinone biosynthesis monooxygena...
COQ6
200Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4A6G3V4A6_HUMAN
Ubiquinone biosynthesis monooxygena...
COQ6
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2L5G3V2L5_HUMAN
Ubiquinone biosynthesis monooxygena...
COQ6
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3L0G3V3L0_HUMAN
Ubiquinone biosynthesis monooxygena...
COQ6
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti22 – 30VSWRRWSGA → AVLAQVVRR in AAD27719 (PubMed:10810093).Curated9
Sequence conflicti317A → P in AAD27719 (PubMed:10810093).Curated1
Sequence conflicti336 – 337AR → PW in AAD27719 (PubMed:10810093).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075225208D → H Probable disease-associated variant found in patients with Schwannomatosis; loss of function. 1 PublicationCorresponds to variant dbSNP:rs606231262EnsemblClinVar.1
Natural variantiVAR_068216255G → R in COQ10D6. 1 PublicationCorresponds to variant dbSNP:rs1057519350EnsemblClinVar.1
Natural variantiVAR_078122261P → L in COQ10D6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371260604Ensembl.1
Natural variantiVAR_068217287E → K1 PublicationCorresponds to variant dbSNP:rs17851169Ensembl.1
Natural variantiVAR_052691300D → Y. Corresponds to variant dbSNP:rs1044640Ensembl.1
Natural variantiVAR_033813339D → V. Corresponds to variant dbSNP:rs2074930EnsemblClinVar.1
Natural variantiVAR_068218353A → D in COQ10D6. 1 PublicationCorresponds to variant dbSNP:rs397514479EnsemblClinVar.1
Natural variantiVAR_033814395T → M. Corresponds to variant dbSNP:rs34746680EnsemblClinVar.1
Natural variantiVAR_014953406V → M1 PublicationCorresponds to variant dbSNP:rs8500EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0440602 – 119AARLV…FRRMQ → IFTFMTRKSCCSKQVQRKYW RNCQKLTATGSAPFPLALQR FSV in isoform 2. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0440612 – 54AARLV…MACAL → RGQGPPLSSFGVWLASRAAS DPSRPRRQ in isoform 3. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_044062460 – 461Missing in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF132944 mRNA Translation: AAD27719.1
AK296040 mRNA Translation: BAH12244.1
BX248000 mRNA Translation: CAD62332.1
AK222965 mRNA Translation: BAD96685.1
AC005480 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81148.1
BC014181 mRNA Translation: AAH14181.1
BC014483 mRNA Translation: AAH14483.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9823.1 [Q9Y2Z9-1]
CCDS9824.2 [Q9Y2Z9-3]

NCBI Reference Sequences

More...
RefSeqi
NP_872282.1, NM_182476.2 [Q9Y2Z9-1]
NP_872286.2, NM_182480.2 [Q9Y2Z9-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000334571; ENSP00000333946; ENSG00000119723 [Q9Y2Z9-1]
ENST00000394026; ENSP00000377594; ENSG00000119723 [Q9Y2Z9-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51004

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51004

UCSC genome browser

More...
UCSCi
uc001xph.4, human [Q9Y2Z9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF132944 mRNA Translation: AAD27719.1
AK296040 mRNA Translation: BAH12244.1
BX248000 mRNA Translation: CAD62332.1
AK222965 mRNA Translation: BAD96685.1
AC005480 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81148.1
BC014181 mRNA Translation: AAH14181.1
BC014483 mRNA Translation: AAH14483.1
CCDSiCCDS9823.1 [Q9Y2Z9-1]
CCDS9824.2 [Q9Y2Z9-3]
RefSeqiNP_872282.1, NM_182476.2 [Q9Y2Z9-1]
NP_872286.2, NM_182480.2 [Q9Y2Z9-3]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi119212, 35 interactors
ComplexPortaliCPX-3642, CoQ biosynthetic complex
IntActiQ9Y2Z9, 61 interactors
STRINGi9606.ENSP00000333946

PTM databases

iPTMnetiQ9Y2Z9
PhosphoSitePlusiQ9Y2Z9

Polymorphism and mutation databases

BioMutaiCOQ6
DMDMi26006952

Proteomic databases

EPDiQ9Y2Z9
jPOSTiQ9Y2Z9
MassIVEiQ9Y2Z9
PaxDbiQ9Y2Z9
PeptideAtlasiQ9Y2Z9
PRIDEiQ9Y2Z9
ProteomicsDBi6528
69762
85949 [Q9Y2Z9-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
47346, 187 antibodies

The DNASU plasmid repository

More...
DNASUi
51004

Genome annotation databases

EnsembliENST00000334571; ENSP00000333946; ENSG00000119723 [Q9Y2Z9-1]
ENST00000394026; ENSP00000377594; ENSG00000119723 [Q9Y2Z9-3]
GeneIDi51004
KEGGihsa:51004
UCSCiuc001xph.4, human [Q9Y2Z9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51004
DisGeNETi51004
EuPathDBiHostDB:ENSG00000119723.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COQ6
GeneReviewsiCOQ6
HGNCiHGNC:20233, COQ6
HPAiENSG00000119723, Low tissue specificity
MalaCardsiCOQ6
MIMi614647, gene
614650, phenotype
neXtProtiNX_Q9Y2Z9
OpenTargetsiENSG00000119723
Orphaneti280406, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
93921, Schwannomatosis
PharmGKBiPA134940980

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3855, Eukaryota
GeneTreeiENSGT00390000015152
InParanoidiQ9Y2Z9
KOiK06126
OMAiTREWDYL
OrthoDBi655400at2759
PhylomeDBiQ9Y2Z9
TreeFamiTF105772

Enzyme and pathway databases

UniPathwayiUPA00232
BioCyciMetaCyc:ENSG00000119723-MONOMER
PathwayCommonsiQ9Y2Z9
ReactomeiR-HSA-2142789, Ubiquinol biosynthesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
51004, 57 hits in 882 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51004
PharosiQ9Y2Z9, Tbio

Protein Ontology

More...
PROi
PR:Q9Y2Z9
RNActiQ9Y2Z9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119723, Expressed in right adrenal gland and 181 other tissues
ExpressionAtlasiQ9Y2Z9, baseline and differential
GenevisibleiQ9Y2Z9, HS

Family and domain databases

Gene3Di3.50.50.60, 2 hits
HAMAPiMF_03193, COQ6_monooxygenase, 1 hit
InterProiView protein in InterPro
IPR002938, FAD-bd
IPR036188, FAD/NAD-bd_sf
IPR018168, Ubi_Hdrlase_CS
IPR010971, UbiH/COQ6
IPR000689, UbQ_mOase_COQ6
PfamiView protein in Pfam
PF01494, FAD_binding_3, 2 hits
SUPFAMiSSF51905, SSF51905, 1 hit
TIGRFAMsiTIGR01989, COQ6, 1 hit
TIGR01988, Ubi-OHases, 1 hit
PROSITEiView protein in PROSITE
PS01304, UBIH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOQ6_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y2Z9
Secondary accession number(s): B7Z3K8
, Q53GG6, Q86U30, Q96CA1, Q96CK2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 28, 2002
Last modified: August 12, 2020
This is version 179 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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
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