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Entry version 157 (16 Oct 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Atypical kinase COQ8A, mitochondrial

Gene

COQ8A

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

Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144, PubMed:21296186, PubMed:25540914, PubMed:27499294). Its substrate specificity is unclear: does not show any protein kinase activity (PubMed:25498144, PubMed:27499294). Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (PubMed:25498144, PubMed:27499294). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144).2 Publications2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket. Nucleotide-binding relieves inhibition (PubMed:27499294).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'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.1 Publication
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei340ATP1 Publication1 PublicationImported1
Binding sitei358ATP1 PublicationImported1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei488Proton acceptor1 Publication1
Binding sitei493ATP1 PublicationImported1
Binding sitei507ATP1 PublicationImported1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi445 – 448ATP1 PublicationImported4

<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 functionKinase, Transferase
Biological processUbiquinone biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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

More...
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_and_taxonomy_section">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:
Atypical kinase COQ8A, mitochondrialCurated (EC:2.7.-.-1 Publication)
Alternative name(s):
Chaperone activity of bc1 complex-like1 Publication
Short name:
Chaperone-ABC1-like1 Publication
Coenzyme Q protein 8ACurated
aarF domain-containing protein kinase 3Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:COQ8A1 PublicationImported
Synonyms:ADCK3Imported, CABC11 Publication
ORF Names:PP265
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16812 COQ8A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606980 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NI60

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei214 – 230HelicalSequence analysis1 PublicationAdd BLAST17

Keywords - Cellular componenti

Membrane, Mitochondrion

<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, 4 (COQ10D4)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures.
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_044402213R → W in COQ10D4. 2 PublicationsCorresponds to variant dbSNP:rs119468005EnsemblClinVar.1
Natural variantiVAR_072622271R → C in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs145034527EnsemblClinVar.1
Natural variantiVAR_044403272G → D in COQ10D4. 2 PublicationsCorresponds to variant dbSNP:rs119468006EnsemblClinVar.1
Natural variantiVAR_044404272G → V in COQ10D4. 2 PublicationsCorresponds to variant dbSNP:rs119468006EnsemblClinVar.1
Natural variantiVAR_072623299R → W in COQ10D4; decreased stability. 3 PublicationsCorresponds to variant dbSNP:rs201908721EnsemblClinVar.1
Natural variantiVAR_072624304A → T in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs778798354Ensembl.1
Natural variantiVAR_072625304A → V in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs748118737EnsemblClinVar.1
Natural variantiVAR_072626429Y → C in COQ10D4; decreased stability. 2 PublicationsCorresponds to variant dbSNP:rs144147839EnsemblClinVar.1
Natural variantiVAR_044405514Y → C in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs119468008EnsemblClinVar.1
Natural variantiVAR_044406549G → S in COQ10D4; decreased stability. 3 PublicationsCorresponds to variant dbSNP:rs119468009EnsemblClinVar.1
Natural variantiVAR_044407551E → K in COQ10D4; decreased stability. 3 PublicationsCorresponds to variant dbSNP:rs119468004EnsemblClinVar.1
Natural variantiVAR_076860578F → V in COQ10D4; unknown pathological significance. 1 Publication1
Natural variantiVAR_044408584Missing in COQ10D4. 1 Publication1
Natural variantiVAR_072627602P → R in COQ10D4; found in a compound heterozygote also carrying an intragenic frameshift deletion. 1 PublicationCorresponds to variant dbSNP:rs61995958Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi214L → A, I, L or F: Strongly impairs homodimerization. 1 Publication1
Mutagenesisi214L → I, F, G or V: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi215A → I, L or G: Does not impair homodimerization. 1 Publication1
Mutagenesisi216N → A, L, F or M: Does not impair homodimerization. 1 Publication1
Mutagenesisi217F → A: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi218G → I, L or F: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi219G → A or F: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi219G → I: Strongly impairs homodimerization. 1 Publication1
Mutagenesisi220L → G: Impaired homodimerization. 1 Publication1
Mutagenesisi221A → L: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi222V → A: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi223G → A, I, L or F: Strongly impairs homodimerization. 1 Publication1
Mutagenesisi224L → V: Impaired homodimerization. 1 Publication1
Mutagenesisi225G → L: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi226F → A: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi227G → V, F, L or I: Strongly impairs homodimerization. 1 Publication1
Mutagenesisi228A → I, L or F: Does not impair homodimerization. 1 Publication1
Mutagenesisi229L → A: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi230A → I: Slightly impaired homodimerization. 1 Publication1
Mutagenesisi276K → R or H: Does not affect selectivity for binding ADP or ATP. Impaired multi-subunit COQ enzyme complex. 2 Publications1
Mutagenesisi279Q → R or H: Does not affect selectivity for binding ADP or ATP. 1 Publication1
Mutagenesisi339A → G: Enables autophosphorylation but inhibits coenzyme Q biosynthesis in vivo. 1 Publication1
Mutagenesisi358K → R: Abolishes binding ADP or ATP. 1 Publication1
Mutagenesisi405E → A or Q: Slightly affects selectivity for binding ADP or ATP. 1 Publication1
Mutagenesisi411E → Q: Impaired binding ADP or ATP. 1 Publication1
Mutagenesisi488D → N: Impaired binding ADP or ATP. 1 Publication1
Mutagenesisi493N → A: Impaired binding ADP or ATP. 1 Publication1
Mutagenesisi507D → N: Strongly impairs binding ADP or ATP. Impaired multi-subunit COQ enzyme complex. 2 Publications1
Mutagenesisi611R → A or Q: Does not affect selectivity for binding ADP or ATP. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
56997

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

More...
GeneReviewsi
COQ8A

MalaCards human disease database

More...
MalaCardsi
COQ8A
MIMi612016 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163050

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

More...
Orphaneti
139485 Autosomal recessive ataxia due to ubiquinone deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25999

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NI60

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5550

Drug and drug target database

More...
DrugBanki
DB12010 Fostamatinib

DrugCentral

More...
DrugCentrali
Q8NI60

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COQ8A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
27923741

<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 – 162Mitochondrion1 PublicationAdd BLAST162
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000000262163 – 647Atypical kinase COQ8A, mitochondrialAdd BLAST485

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NI60

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NI60

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NI60

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NI60

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

More...
PaxDbi
Q8NI60

PeptideAtlas

More...
PeptideAtlasi
Q8NI60

PRoteomics IDEntifications database

More...
PRIDEi
Q8NI60

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73833 [Q8NI60-1]
73834 [Q8NI60-2]
73835 [Q8NI60-3]
73836 [Q8NI60-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NI60

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

More...
PhosphoSitePlusi
Q8NI60

<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

Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By p53/TP53.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163050 Expressed in 230 organ(s), highest expression level in gastrocnemius

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NI60 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NI60 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA061662

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; homodimerizes via its transmembrane region (PubMed:25216398).

Interacts with the multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (PubMed:27499294, PubMed:27499296).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121312, 49 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NI60, 69 interactors

Molecular INTeraction database

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MINTi
Q8NI60

STRING: functional protein association networks

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STRINGi
9606.ENSP00000355741

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q8NI60

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1647
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NI60

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini329 – 518Protein kinaseAdd BLAST190

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi276 – 279KxGQ motif1 Publication4
Motifi337 – 340AAAS motif1 Publication4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains, a number of features are positioned to inhibit the kinase activity: (1) an atypical AAAS motif in an alanine-rich (A-rich) loop that replaces the canonical glycine-rich (G-rich) nucleotide-binding loop and limits ATP binding by establishing an unusual selectivity for ADP and (2) an N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket (PubMed:25498144). Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture (PubMed:27499294).2 Publications

<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

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1234 Eukaryota
COG0661 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156810

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000201140

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NI60

KEGG Orthology (KO)

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KOi
K08869

Identification of Orthologs from Complete Genome Data

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OMAi
KYWEGRT

Database of Orthologous Groups

More...
OrthoDBi
525494at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NI60

TreeFam database of animal gene trees

More...
TreeFami
TF300630

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13970 ABC1_ADCK3, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR034646 ADCK3_UbiB
IPR034640 COQ8A
IPR011009 Kinase-like_dom_sf
IPR004147 UbiB_dom

The PANTHER Classification System

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PANTHERi
PTHR43851 PTHR43851, 1 hit
PTHR43851:SF1 PTHR43851:SF1, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03109 ABC1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56112 SSF56112, 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_length">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 (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8NI60-1) [UniParc]FASTAAdd to basket

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
MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMAA RALQSTAVEQ
60 70 80 90 100
IGMFLGKVQG QDKHEEYFAE NFGGPEGEFH FSVPHAAGAS TDFSSASAPD
110 120 130 140 150
QSAPPSLGHA HSEGPAPAYV ASGPFREAGF PGQASSPLGR ANGRLFANPR
160 170 180 190 200
DSFSAMGFQR RFFHQDQSPV GGLTAEDIEK ARQAKARPEN KQHKQTLSEH
210 220 230 240 250
ARERKVPVTR IGRLANFGGL AVGLGFGALA EVAKKSLRSE DPSGKKAVLG
260 270 280 290 300
SSPFLSEANA ERIVRTLCKV RGAALKLGQM LSIQDDAFIN PHLAKIFERV
310 320 330 340 350
RQSADFMPLK QMMKTLNNDL GPNWRDKLEY FEERPFAAAS IGQVHLARMK
360 370 380 390 400
GGREVAMKIQ YPGVAQSINS DVNNLMAVLN MSNMLPEGLF PEHLIDVLRR
410 420 430 440 450
ELALECDYQR EAACARKFRD LLKGHPFFYV PEIVDELCSP HVLTTELVSG
460 470 480 490 500
FPLDQAEGLS QEIRNEICYN ILVLCLRELF EFHFMQTDPN WSNFFYDPQQ
510 520 530 540 550
HKVALLDFGA TREYDRSFTD LYIQIIRAAA DRDRETVRAK SIEMKFLTGY
560 570 580 590 600
EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
610 620 630 640
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ
Length:647
Mass (Da):71,950
Last modified:October 1, 2002 - v1
<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:iDEF8F022027BF6CC
GO
Isoform 2 (identifier: Q8NI60-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-484: Missing.

Note: No experimental confirmation available.
Show »
Length:163
Mass (Da):18,937
Checksum:iA309AB9DDBE67C56
GO
Isoform 3 (identifier: Q8NI60-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Note: No experimental confirmation available.
Show »
Length:595
Mass (Da):66,627
Checksum:i83F12FA56BCB190E
GO
Isoform 4 (identifier: Q8NI60-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-279: Missing.

Note: No experimental confirmation available.
Show »
Length:368
Mass (Da):42,537
Checksum:i8522AEA0D7547110
GO

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 conflicti283 – 284IQ → VR in BAC11143 (PubMed:14702039).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02031985H → Q. Corresponds to variant dbSNP:rs2297411EnsemblClinVar.1
Natural variantiVAR_044402213R → W in COQ10D4. 2 PublicationsCorresponds to variant dbSNP:rs119468005EnsemblClinVar.1
Natural variantiVAR_072622271R → C in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs145034527EnsemblClinVar.1
Natural variantiVAR_044403272G → D in COQ10D4. 2 PublicationsCorresponds to variant dbSNP:rs119468006EnsemblClinVar.1
Natural variantiVAR_044404272G → V in COQ10D4. 2 PublicationsCorresponds to variant dbSNP:rs119468006EnsemblClinVar.1
Natural variantiVAR_072623299R → W in COQ10D4; decreased stability. 3 PublicationsCorresponds to variant dbSNP:rs201908721EnsemblClinVar.1
Natural variantiVAR_072624304A → T in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs778798354Ensembl.1
Natural variantiVAR_072625304A → V in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs748118737EnsemblClinVar.1
Natural variantiVAR_045576341I → T1 PublicationCorresponds to variant dbSNP:rs55798516Ensembl.1
Natural variantiVAR_072626429Y → C in COQ10D4; decreased stability. 2 PublicationsCorresponds to variant dbSNP:rs144147839EnsemblClinVar.1
Natural variantiVAR_044405514Y → C in COQ10D4. 1 PublicationCorresponds to variant dbSNP:rs119468008EnsemblClinVar.1
Natural variantiVAR_044406549G → S in COQ10D4; decreased stability. 3 PublicationsCorresponds to variant dbSNP:rs119468009EnsemblClinVar.1
Natural variantiVAR_044407551E → K in COQ10D4; decreased stability. 3 PublicationsCorresponds to variant dbSNP:rs119468004EnsemblClinVar.1
Natural variantiVAR_076860578F → V in COQ10D4; unknown pathological significance. 1 Publication1
Natural variantiVAR_044408584Missing in COQ10D4. 1 Publication1
Natural variantiVAR_072627602P → R in COQ10D4; found in a compound heterozygote also carrying an intragenic frameshift deletion. 1 PublicationCorresponds to variant dbSNP:rs61995958Ensembl.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_0223511 – 484Missing in isoform 2. 1 PublicationAdd BLAST484
Alternative sequenceiVSP_0223521 – 279Missing in isoform 4. 1 PublicationAdd BLAST279
Alternative sequenceiVSP_0223531 – 52Missing in isoform 3. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB073905 mRNA Translation: BAB91363.1
AJ278126 mRNA Translation: CAC00482.1
AF218003 mRNA Translation: AAG17245.1
AK074693 mRNA Translation: BAC11143.1
BX648860 mRNA Translation: CAH56132.1
AL353689 Genomic DNA No translation available.
BC005171 mRNA Translation: AAH05171.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1557.1 [Q8NI60-1]

NCBI Reference Sequences

More...
RefSeqi
NP_064632.2, NM_020247.4 [Q8NI60-1]
XP_005273258.1, XM_005273201.1 [Q8NI60-1]
XP_011542540.1, XM_011544238.1 [Q8NI60-1]
XP_011542541.1, XM_011544239.2 [Q8NI60-1]
XP_011542542.1, XM_011544240.2
XP_011542543.1, XM_011544241.2 [Q8NI60-1]
XP_016857341.1, XM_017001852.1 [Q8NI60-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366777; ENSP00000355739; ENSG00000163050 [Q8NI60-1]
ENST00000366778; ENSP00000355740; ENSG00000163050 [Q8NI60-3]
ENST00000366779; ENSP00000355741; ENSG00000163050 [Q8NI60-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
56997

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56997

UCSC genome browser

More...
UCSCi
uc001hqm.2 human [Q8NI60-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB073905 mRNA Translation: BAB91363.1
AJ278126 mRNA Translation: CAC00482.1
AF218003 mRNA Translation: AAG17245.1
AK074693 mRNA Translation: BAC11143.1
BX648860 mRNA Translation: CAH56132.1
AL353689 Genomic DNA No translation available.
BC005171 mRNA Translation: AAH05171.2
CCDSiCCDS1557.1 [Q8NI60-1]
RefSeqiNP_064632.2, NM_020247.4 [Q8NI60-1]
XP_005273258.1, XM_005273201.1 [Q8NI60-1]
XP_011542540.1, XM_011544238.1 [Q8NI60-1]
XP_011542541.1, XM_011544239.2 [Q8NI60-1]
XP_011542542.1, XM_011544240.2
XP_011542543.1, XM_011544241.2 [Q8NI60-1]
XP_016857341.1, XM_017001852.1 [Q8NI60-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PEDX-ray1.64A256-647[»]
5I35X-ray2.30A256-647[»]
SMRiQ8NI60
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi121312, 49 interactors
IntActiQ8NI60, 69 interactors
MINTiQ8NI60
STRINGi9606.ENSP00000355741

Chemistry databases

BindingDBiQ8NI60
ChEMBLiCHEMBL5550
DrugBankiDB12010 Fostamatinib
DrugCentraliQ8NI60

PTM databases

iPTMnetiQ8NI60
PhosphoSitePlusiQ8NI60

Polymorphism and mutation databases

BioMutaiCOQ8A
DMDMi27923741

Proteomic databases

EPDiQ8NI60
jPOSTiQ8NI60
MassIVEiQ8NI60
MaxQBiQ8NI60
PaxDbiQ8NI60
PeptideAtlasiQ8NI60
PRIDEiQ8NI60
ProteomicsDBi73833 [Q8NI60-1]
73834 [Q8NI60-2]
73835 [Q8NI60-3]
73836 [Q8NI60-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
56997

Genome annotation databases

EnsembliENST00000366777; ENSP00000355739; ENSG00000163050 [Q8NI60-1]
ENST00000366778; ENSP00000355740; ENSG00000163050 [Q8NI60-3]
ENST00000366779; ENSP00000355741; ENSG00000163050 [Q8NI60-1]
GeneIDi56997
KEGGihsa:56997
UCSCiuc001hqm.2 human [Q8NI60-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56997
DisGeNETi56997

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COQ8A
GeneReviewsiCOQ8A
HGNCiHGNC:16812 COQ8A
HPAiHPA061662
MalaCardsiCOQ8A
MIMi606980 gene
612016 phenotype
neXtProtiNX_Q8NI60
OpenTargetsiENSG00000163050
Orphaneti139485 Autosomal recessive ataxia due to ubiquinone deficiency
PharmGKBiPA25999

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1234 Eukaryota
COG0661 LUCA
GeneTreeiENSGT00940000156810
HOGENOMiHOG000201140
InParanoidiQ8NI60
KOiK08869
OMAiKYWEGRT
OrthoDBi525494at2759
PhylomeDBiQ8NI60
TreeFamiTF300630

Enzyme and pathway databases

UniPathwayiUPA00232

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
COQ8A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CABC1

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

More...
GenomeRNAii
56997
PharosiQ8NI60

Protein Ontology

More...
PROi
PR:Q8NI60

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163050 Expressed in 230 organ(s), highest expression level in gastrocnemius
ExpressionAtlasiQ8NI60 baseline and differential
GenevisibleiQ8NI60 HS

Family and domain databases

CDDicd13970 ABC1_ADCK3, 1 hit
InterProiView protein in InterPro
IPR034646 ADCK3_UbiB
IPR034640 COQ8A
IPR011009 Kinase-like_dom_sf
IPR004147 UbiB_dom
PANTHERiPTHR43851 PTHR43851, 1 hit
PTHR43851:SF1 PTHR43851:SF1, 1 hit
PfamiView protein in Pfam
PF03109 ABC1, 1 hit
SUPFAMiSSF56112 SSF56112, 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 nameiCOQ8A_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: Q8NI60
Secondary accession number(s): Q5T7A5
, Q63HK0, Q8NCJ6, Q9HBQ1, Q9NQ67
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: October 1, 2002
Last modified: October 16, 2019
This is version 157 of the entry and version 1 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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 and mouse protein kinases
    Human and mouse protein kinases: classification and index
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  8. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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