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UniProtKB - Q96D53 (COQ8B_HUMAN)

Entry version 154 (25 May 2022)
Sequence version 2 (01 Oct 2002)
Previous versions | rss
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Protein

Atypical kinase COQ8B, mitochondrial

Gene

COQ8B

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:24270420).

Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).

By similarity1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei219ATPBy similarity1
Binding sitei237ATPBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei367Proton acceptorBy similarity1
Binding sitei372ATPBy similarity1
Binding sitei386ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi324 – 327ATPBy similarity4

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96D53

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96D53

<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:
Atypical kinase COQ8B, mitochondrialCurated (EC:2.7.-.-By similarity)
Alternative name(s):
AarF domain-containing protein kinase 4Imported
Coenzyme Q protein 8BCurated
<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:COQ8BImported
Synonyms:ADCK4Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19041, COQ8B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615567, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96D53

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000123815

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei92 – 108HelicalSequence analysisAdd BLAST17

Keywords - Cellular componenti

Cell membrane, Cytoplasm, 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

Nephrotic syndrome 9 (NPHS9)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show 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_07686198L → R in NPHS9. 1 Publication1
Natural variantiVAR_070552178R → W in NPHS9. 2 PublicationsCorresponds to variant dbSNP:rs398122978EnsemblClinVar.1
Natural variantiVAR_070553286D → G in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122979EnsemblClinVar.1
Natural variantiVAR_076862310P → L in NPHS9. 1 Publication1
Natural variantiVAR_070554320R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs369573693EnsemblClinVar.1
Natural variantiVAR_070555343R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122981EnsemblClinVar.1
Natural variantiVAR_070556477R → Q in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs1057519347EnsemblClinVar.1
Natural variantiVAR_076863498A → E in NPHS9. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		79934

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

More...GeneReviewsi		COQ8B

MalaCards human disease database

More...MalaCardsi		COQ8B
MIMi615573, phenotype

Open Targets

More...OpenTargetsi		ENSG00000123815

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

More...Orphaneti		656, Genetic steroid-resistant nephrotic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134988974

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96D53, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5753

Drug and drug target database

More...DrugBanki		DB12010, Fostamatinib

DrugCentral

More...DrugCentrali		Q96D53

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COQ8B

Domain mapping of disease mutations (DMDM)

More...DMDMi		74731415

<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 polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002717971 – 544Atypical kinase COQ8B, mitochondrialAdd BLAST544

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96D53

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96D53

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96D53

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96D53

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

More...PaxDbi		Q96D53

PeptideAtlas

More...PeptideAtlasi		Q96D53

PRoteomics IDEntifications database

More...PRIDEi		Q96D53

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76252 [Q96D53-1]
76253 [Q96D53-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96D53

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

More...PhosphoSitePlusi		Q96D53

<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, including renal podocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000123815, Expressed in adenohypophysis and 191 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96D53, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96D53, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000123815, 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

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

Interacts with COQ6 and COQ7 (PubMed:24270420).

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

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123009, 127 interactors

Protein interaction database and analysis system

More...IntActi		Q96D53, 64 interactors

Molecular INTeraction database

More...MINTi		Q96D53

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000315118

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q96D53

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96D53, protein

<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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96D53

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

More...SMRi		Q96D53

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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>Domaini191 – 423Protein kinaseAdd BLAST233

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni45 – 86DisorderedSequence analysisAdd BLAST42

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>Motifi155 – 158KxGQ motifBy similarity4
Motifi216 – 219AAAS motifBy similarity4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi51 – 86Basic and acidic residuesSequence analysisAdd BLAST36

<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. The KxGQ motif completely occludes the typical substrate binding pocket. Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture.By similarity

<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 protein kinase superfamily. ADCK protein kinase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1234, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01040000241091

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006533_9_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96D53

Identification of Orthologs from Complete Genome Data

More...OMAi		KFHQDGP

Database of Orthologous Groups

More...OrthoDBi		525494at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96D53

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
IPR004147, ABC1_dom
IPR034646, ADCK3_dom
IPR034638, COQ8B
IPR011009, Kinase-like_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR43851:SF4, PTHR43851:SF4, 1 hit

Pfam protein domain database

More...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%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 (2+)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.

This entry describes 2 <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

This entry has 2 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96D53-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP 
        60         70         80         90        100
GRGLGEEDIR RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV 
       110        120        130        140        150
GLGLGVLAEM AKKSMPGGRL QSEGGSGLDS SPFLSEANAE RIVQTLCTVR 
       160        170        180        190        200
GAALKVGQML SIQDNSFISP QLQHIFERVR QSADFMPRWQ MLRVLEEELG 
       210        220        230        240        250
RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY PGIAQSIQSD 
       260        270        280        290        300
VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL 
       310        320        330        340        350
LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL 
       360        370        380        390        400
LTLCLRELFE FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH 
       410        420        430        440        450
YIEVVKAAAD GDRDCVLQKS RDLKFLTGFE TKAFSDAHVE AVMILGEPFA 
       460        470        480        490        500
TQGPYDFGSG ETARRIQDLI PVLLRHRLCP PPEETYALHR KLAGAFLACA 
       510        520        530        540 
HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW VDPS
Length:544
Mass (Da):60,069
Last modified:October 1, 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:i4645DF579B9DFA4B
GO
Isoform 2 (identifier: Q96D53-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-163: Missing.

Show »
Length:503
Mass (Da):55,853
Checksum:i547A81982FE22A6A
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 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0L2M0R0L2_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
518Annotation 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>
M0R011M0R011_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
230Annotation 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>
M0R3F7M0R3F7_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
157Annotation 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>
M0R307M0R307_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
110Annotation 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>
M0R340M0R340_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
121Annotation 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>
M0QZZ2M0QZZ2_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
149Annotation 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>
A0A7I2V3G8A0A7I2V3G8_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
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>
M0R001M0R001_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
204Annotation 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>
M0R0F4M0R0F4_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
115Annotation 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>
A0A7I2V4Z6A0A7I2V4Z6_HUMAN
Atypical kinase COQ8B, mitochondria...
COQ8B
336Annotation 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>
There are more potential isoformsShow all

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 conflicti164 – 166DNS → GTA in BAB14004 (PubMed:14702039).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04142078R → C1 PublicationCorresponds to variant dbSNP:rs11538384EnsemblClinVar.1
Natural variantiVAR_07686198L → R in NPHS9. 1 Publication1
Natural variantiVAR_029995174H → R1 PublicationCorresponds to variant dbSNP:rs3865452EnsemblClinVar.1
Natural variantiVAR_070552178R → W in NPHS9. 2 PublicationsCorresponds to variant dbSNP:rs398122978EnsemblClinVar.1
Natural variantiVAR_070553286D → G in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122979EnsemblClinVar.1
Natural variantiVAR_076862310P → L in NPHS9. 1 Publication1
Natural variantiVAR_041421318T → M1 PublicationCorresponds to variant dbSNP:rs55899516Ensembl.1
Natural variantiVAR_070554320R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs369573693EnsemblClinVar.1
Natural variantiVAR_070555343R → W in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs398122981EnsemblClinVar.1
Natural variantiVAR_041422352T → R1 PublicationCorresponds to variant dbSNP:rs36012476EnsemblClinVar.1
Natural variantiVAR_041423462T → M1 PublicationCorresponds to variant dbSNP:rs56083906Ensembl.1
Natural variantiVAR_070556477R → Q in NPHS9. 1 PublicationCorresponds to variant dbSNP:rs1057519347EnsemblClinVar.1
Natural variantiVAR_076863498A → E in NPHS9. 1 Publication1

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_022357123 – 163Missing in isoform 2. 1 PublicationAdd BLAST41

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
BC013114 mRNA Translation: AAH13114.2
BC027473 mRNA Translation: AAH27473.1
AK022291 mRNA Translation: BAB14004.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12562.1 [Q96D53-1]
CCDS46081.1 [Q96D53-2]

NCBI Reference Sequences

More...RefSeqi		NP_001136027.1, NM_001142555.2 [Q96D53-2]
NP_079152.3, NM_024876.3 [Q96D53-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000243583.10; ENSP00000243583.5; ENSG00000123815.13 [Q96D53-2]
ENST00000324464.8; ENSP00000315118.3; ENSG00000123815.13
ENST00000594720.6; ENSP00000470876.2; ENSG00000123815.13
ENST00000601967.6; ENSP00000470916.2; ENSG00000123815.13
ENST00000677018.1; ENSP00000503480.1; ENSG00000123815.13
ENST00000678404.1; ENSP00000503944.1; ENSG00000123815.13
ENST00000678419.1; ENSP00000504085.1; ENSG00000123815.13
ENST00000678467.1; ENSP00000504072.1; ENSG00000123815.13
ENST00000679130.1; ENSP00000504845.1; ENSG00000123815.13

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79934

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79934

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000324464.8; ENSP00000315118.3; NM_024876.4; NP_079152.3

UCSC genome browser

More...UCSCi		uc002ooq.3, human [Q96D53-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
BC013114 mRNA Translation: AAH13114.2
BC027473 mRNA Translation: AAH27473.1
AK022291 mRNA Translation: BAB14004.1
CCDSiCCDS12562.1 [Q96D53-1]
CCDS46081.1 [Q96D53-2]
RefSeqiNP_001136027.1, NM_001142555.2 [Q96D53-2]
NP_079152.3, NM_024876.3 [Q96D53-1]

3D structure databases

AlphaFoldDBiQ96D53
SMRiQ96D53
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123009, 127 interactors
IntActiQ96D53, 64 interactors
MINTiQ96D53
STRINGi9606.ENSP00000315118

Chemistry databases

BindingDBiQ96D53
ChEMBLiCHEMBL5753
DrugBankiDB12010, Fostamatinib
DrugCentraliQ96D53

PTM databases

iPTMnetiQ96D53
PhosphoSitePlusiQ96D53

Genetic variation databases

BioMutaiCOQ8B
DMDMi74731415

Proteomic databases

EPDiQ96D53
jPOSTiQ96D53
MassIVEiQ96D53
MaxQBiQ96D53
PaxDbiQ96D53
PeptideAtlasiQ96D53
PRIDEiQ96D53
ProteomicsDBi76252 [Q96D53-1]
76253 [Q96D53-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30619, 238 antibodies from 28 providers

The DNASU plasmid repository

More...DNASUi		79934

Genome annotation databases

EnsembliENST00000243583.10; ENSP00000243583.5; ENSG00000123815.13 [Q96D53-2]
ENST00000324464.8; ENSP00000315118.3; ENSG00000123815.13
ENST00000594720.6; ENSP00000470876.2; ENSG00000123815.13
ENST00000601967.6; ENSP00000470916.2; ENSG00000123815.13
ENST00000677018.1; ENSP00000503480.1; ENSG00000123815.13
ENST00000678404.1; ENSP00000503944.1; ENSG00000123815.13
ENST00000678419.1; ENSP00000504085.1; ENSG00000123815.13
ENST00000678467.1; ENSP00000504072.1; ENSG00000123815.13
ENST00000679130.1; ENSP00000504845.1; ENSG00000123815.13
GeneIDi79934
KEGGihsa:79934
MANE-SelectiENST00000324464.8; ENSP00000315118.3; NM_024876.4; NP_079152.3
UCSCiuc002ooq.3, human [Q96D53-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79934
DisGeNETi79934

GeneCards: human genes, protein and diseases

More...GeneCardsi		COQ8B
GeneReviewsiCOQ8B
HGNCiHGNC:19041, COQ8B
HPAiENSG00000123815, Low tissue specificity
MalaCardsiCOQ8B
MIMi615567, gene
615573, phenotype
neXtProtiNX_Q96D53
OpenTargetsiENSG00000123815
Orphaneti656, Genetic steroid-resistant nephrotic syndrome
PharmGKBiPA134988974
VEuPathDBiHostDB:ENSG00000123815

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1234, Eukaryota
GeneTreeiENSGT01040000241091
HOGENOMiCLU_006533_9_0_1
InParanoidiQ96D53
OMAiKFHQDGP
OrthoDBi525494at2759
PhylomeDBiQ96D53
TreeFamiTF300630

Enzyme and pathway databases

PathwayCommonsiQ96D53
SignaLinkiQ96D53

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79934, 18 hits in 1110 CRISPR screens

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

More...ChiTaRSi		COQ8B, human

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

More...GenomeRNAii		79934
PharosiQ96D53, Tchem

Protein Ontology

More...PROi		PR:Q96D53
RNActiQ96D53, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000123815, Expressed in adenohypophysis and 191 other tissues
ExpressionAtlasiQ96D53, baseline and differential
GenevisibleiQ96D53, HS

Family and domain databases

CDDicd13970, ABC1_ADCK3, 1 hit
InterProiView protein in InterPro
IPR004147, ABC1_dom
IPR034646, ADCK3_dom
IPR034638, COQ8B
IPR011009, Kinase-like_dom_sf
PANTHERiPTHR43851:SF4, PTHR43851:SF4, 1 hit
PfamiView protein in Pfam
PF03109, ABC1, 1 hit
SUPFAMiSSF56112, SSF56112, 1 hit

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 nameiCOQ8B_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: Q96D53
Secondary accession number(s): Q8TAJ1, Q9HA52
<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: January 9, 2007
Last sequence update: October 1, 2002
Last modified: May 25, 2022
This is version 154 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 and mouse protein kinases
    Human and mouse protein kinases: classification and index
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families
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