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Entry version 145 (07 Oct 2020)
Sequence version 3 (14 Apr 2009)
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Protein

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Gene

COQ4

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

Annotation score:5 out of 5

<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

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

<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 - 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

Biological processUbiquinone biosynthesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9Y3A0

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%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 protein COQ4 homolog, mitochondrialUniRule annotation
Alternative name(s):
Coenzyme Q biosynthesis protein 4 homologUniRule 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:COQ4UniRule annotation
ORF Names:CGI-92
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000167113.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19693, COQ4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612898, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y3A0

<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

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, 7 (COQ10D7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.
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_07335652L → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs786204770EnsemblClinVar.1
Natural variantiVAR_07335764P → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs766317663EnsemblClinVar.1
Natural variantiVAR_073358145R → G in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs774395996EnsemblClinVar.1
Natural variantiVAR_073359174Missing in COQ10D7. 1 Publication1
Natural variantiVAR_073360240R → C in COQ10D7. 2 PublicationsCorresponds to variant dbSNP:rs143441644EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
51117

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

More...
GeneReviewsi
COQ4

MalaCards human disease database

More...
MalaCardsi
COQ4
MIMi616276, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167113

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

More...
Orphaneti
457185, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134957951

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y3A0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COQ4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
226694194

<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 – 30MitochondrionUniRule annotationAdd BLAST30
<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_000011524031 – 265Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialAdd BLAST235

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei108PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y3A0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y3A0

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

More...
PaxDbi
Q9Y3A0

PeptideAtlas

More...
PeptideAtlasi
Q9Y3A0

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y3A0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85990 [Q9Y3A0-1]
85991 [Q9Y3A0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y3A0

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

More...
PhosphoSitePlusi
Q9Y3A0

<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

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167113, Expressed in right uterine tube and 207 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y3A0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y3A0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000167113, 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.

UniRule annotation

<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
119305, 17 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-3642, CoQ biosynthetic complex

Protein interaction database and analysis system

More...
IntActi
Q9Y3A0, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000300452

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y3A0, 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

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

More...
SMRi
Q9Y3A0

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

<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 COQ4 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3244, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003828

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_061241_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y3A0

KEGG Orthology (KO)

More...
KOi
K18586

Identification of Orthologs from Complete Genome Data

More...
OMAi
LQNPYRH

Database of Orthologous Groups

More...
OrthoDBi
1264469at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y3A0

TreeFam database of animal gene trees

More...
TreeFami
TF314625

Family and domain databases

HAMAP database of protein families

More...
HAMAPi
MF_03111, Coq4, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007715, Coq4
IPR027540, Coq4_euk

The PANTHER Classification System

More...
PANTHERi
PTHR12922, PTHR12922, 1 hit
PTHR12922:SF7, PTHR12922:SF7, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05019, Coq4, 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.

<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 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. 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 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

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

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

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

<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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GY32V9GY32_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ4
96Annotation 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>
Q5T4B9Q5T4B9_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ4
151Annotation 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>
V9GZ09V9GZ09_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ4
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>

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 conflicti230P → H in AAD34087 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04882920R → Q. Corresponds to variant dbSNP:rs9697215EnsemblClinVar.1
Natural variantiVAR_05486150G → A4 PublicationsCorresponds to variant dbSNP:rs3003601Ensembl.1
Natural variantiVAR_07335652L → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs786204770EnsemblClinVar.1
Natural variantiVAR_07335764P → S in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs766317663EnsemblClinVar.1
Natural variantiVAR_073358145R → G in COQ10D7. 1 PublicationCorresponds to variant dbSNP:rs774395996EnsemblClinVar.1
Natural variantiVAR_073359174Missing in COQ10D7. 1 Publication1
Natural variantiVAR_073360240R → C in COQ10D7. 2 PublicationsCorresponds to variant dbSNP:rs143441644EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_0368661 – 24Missing in isoform 2. 1 PublicationAdd BLAST24

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
EU216419 mRNA Translation: ABW91141.1
EU216420 mRNA Translation: ABW91142.1
EU216421 mRNA Translation: ABW91143.1
EU216422 mRNA Translation: ABW91144.1
EU216423 mRNA Translation: ABW91145.1
AF151850 mRNA Translation: AAD34087.1
AK313650 mRNA Translation: BAG36405.1
AL359091 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87776.1
BC011895 mRNA Translation: AAH11895.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6898.1 [Q9Y3A0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_057119.2, NM_016035.4 [Q9Y3A0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000300452; ENSP00000300452; ENSG00000167113 [Q9Y3A0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51117

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51117

UCSC genome browser

More...
UCSCi
uc004bur.5, human [Q9Y3A0-1]

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
EU216419 mRNA Translation: ABW91141.1
EU216420 mRNA Translation: ABW91142.1
EU216421 mRNA Translation: ABW91143.1
EU216422 mRNA Translation: ABW91144.1
EU216423 mRNA Translation: ABW91145.1
AF151850 mRNA Translation: AAD34087.1
AK313650 mRNA Translation: BAG36405.1
AL359091 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87776.1
BC011895 mRNA Translation: AAH11895.1
CCDSiCCDS6898.1 [Q9Y3A0-1]
RefSeqiNP_057119.2, NM_016035.4 [Q9Y3A0-1]

3D structure databases

SMRiQ9Y3A0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119305, 17 interactors
ComplexPortaliCPX-3642, CoQ biosynthetic complex
IntActiQ9Y3A0, 13 interactors
STRINGi9606.ENSP00000300452

PTM databases

iPTMnetiQ9Y3A0
PhosphoSitePlusiQ9Y3A0

Polymorphism and mutation databases

BioMutaiCOQ4
DMDMi226694194

Proteomic databases

jPOSTiQ9Y3A0
MassIVEiQ9Y3A0
PaxDbiQ9Y3A0
PeptideAtlasiQ9Y3A0
PRIDEiQ9Y3A0
ProteomicsDBi85990 [Q9Y3A0-1]
85991 [Q9Y3A0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31095, 44 antibodies

The DNASU plasmid repository

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DNASUi
51117

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51117
DisGeNETi51117
EuPathDBiHostDB:ENSG00000167113.10

GeneCards: human genes, protein and diseases

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GeneCardsi
COQ4
GeneReviewsiCOQ4
HGNCiHGNC:19693, COQ4
HPAiENSG00000167113, Low tissue specificity
MalaCardsiCOQ4
MIMi612898, gene
616276, phenotype
neXtProtiNX_Q9Y3A0
OpenTargetsiENSG00000167113
Orphaneti457185, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
PharmGKBiPA134957951

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3244, Eukaryota
GeneTreeiENSGT00390000003828
HOGENOMiCLU_061241_1_1_1
InParanoidiQ9Y3A0
KOiK18586
OMAiLQNPYRH
OrthoDBi1264469at2759
PhylomeDBiQ9Y3A0
TreeFamiTF314625

Enzyme and pathway databases

UniPathwayiUPA00232
PathwayCommonsiQ9Y3A0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
51117, 421 hits in 862 CRISPR screens

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

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ChiTaRSi
COQ4, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
COQ4

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

More...
GenomeRNAii
51117
PharosiQ9Y3A0, Tbio

Protein Ontology

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PROi
PR:Q9Y3A0
RNActiQ9Y3A0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167113, Expressed in right uterine tube and 207 other tissues
ExpressionAtlasiQ9Y3A0, baseline and differential
GenevisibleiQ9Y3A0, HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiCOQ4_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: Q9Y3A0
Secondary accession number(s): A8WBK8
, B2R958, Q5T4B8, Q96EW4
<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: October 19, 2002
Last sequence update: April 14, 2009
Last modified: October 7, 2020
This is version 145 of the entry and version 3 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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