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UniProtKB - P20674 (COX5A_HUMAN)

Entry version 191 (29 Sep 2021)
Sequence version 2 (16 Dec 2008)
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Protein

Cytochrome c oxidase subunit 5A, mitochondrial

Gene

COX5A

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 cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

By similarity

<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: oxidative phosphorylation

This protein is involved in the pathway oxidative phosphorylation, which is part of Energy metabolism.By similarity
View all proteins of this organism that are known to be involved in the pathway oxidative phosphorylation and in Energy metabolism.

<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

LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS11312-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P20674

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-611105, Respiratory electron transport
R-HSA-9707564, Cytoprotection by HMOX1

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

More...UniPathwayi		UPA00705

Protein family/group databases

Transport Classification Database

More...TCDBi		3.D.4.11.1, the proton-translocating cytochrome oxidase (cox) superfamily

<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:
Cytochrome c oxidase subunit 5A, mitochondrial
Alternative name(s):
Cytochrome c oxidase polypeptide Va
<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:COX5A
<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 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_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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2267, COX5A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603773, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P20674

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000178741

<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

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

Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV.
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_078264107R → C in MC4DN20; decreased protein abundance in patient fibroblasts; decreased proteins abundance of mitochondrial respiratory chain complex IV in patient fibroblasts; no effect on respiratory chain complex IV assembly in patient fibroblasts; increased protein abundance of S1 complex IV intermediate in patient fibroblasts. 1 Publication1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		9377

MalaCards human disease database

More...MalaCardsi		COX5A
MIMi619064, phenotype

Open Targets

More...OpenTargetsi		ENSG00000178741

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

More...Orphaneti		254905, Isolated cytochrome C oxidase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26784

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P20674, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB02659, Cholic Acid
DB04464, N-Formylmethionine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COX5A

Domain mapping of disease mutations (DMDM)

More...DMDMi		218511986

<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 – 41MitochondrionCombined sources1 PublicationAdd BLAST41
<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_000000610042 – 150Cytochrome c oxidase subunit 5A, mitochondrialAdd BLAST109

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 residuei87N6-acetyllysineBy similarity1
Modified residuei113N6-acetyllysineBy similarity1
Modified residuei141PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P20674

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P20674

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P20674

MaxQB - The MaxQuant DataBase

More...MaxQBi		P20674

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

More...PaxDbi		P20674

PeptideAtlas

More...PeptideAtlasi		P20674

PRoteomics IDEntifications database

More...PRIDEi		P20674

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		53772

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P20674

2D gel databases

DOSAC-COBS 2D-PAGE database

More...DOSAC-COBS-2DPAGEi		P20674

USC-OGP 2-DE database

More...OGPi		P20674

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P20674

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P20674

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P20674, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P20674

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

More...PhosphoSitePlusi		P20674

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P20674

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000178741, Expressed in heart left ventricle and 247 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P20674, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P20674, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000178741, Tissue enhanced (heart muscle, skeletal muscle)

<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

Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI1III2IV1 and megacomplex MCI2III2IV2) (PubMed:28844695).

Interacts with AFG1L (PubMed:26759378).

Interacts with RAB5IF (PubMed:31536960).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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)

More...BioGRIDi		114778, 193 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6123, Mitochondrial respiratory chain complex IV

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P20674

Protein interaction database and analysis system

More...IntActi		P20674, 59 interactors

Molecular INTeraction database

More...MINTi		P20674

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000317780

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P20674, 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		P20674

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

<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 cytochrome c oxidase subunit 5A family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4077, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000001424

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_099086_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P20674

Identification of Orthologs from Complete Genome Data

More...OMAi		GHHEDET

Database of Orthologous Groups

More...OrthoDBi		1286549at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P20674

TreeFam database of animal gene trees

More...TreeFami		TF105062

Family and domain databases

Conserved Domains Database

More...CDDi		cd00923, Cyt_c_Oxidase_Va, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.40, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003204, Cyt_c_oxidase_su5A/6
IPR036545, Cyt_c_oxidase_su5A/6_sf

The PANTHER Classification System

More...PANTHERi		PTHR14200, PTHR14200, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02284, COX5A, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48479, SSF48479, 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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

P20674-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLGAALRRCA VAATTRADPR GLLHSARTPG PAVAIQSVRC YSHGSQETDE 
        60         70         80         90        100
EFDARWVTYF NKPDIDAWEL RKGINTLVTY DMVPEPKIID AALRACRRLN 
       110        120        130        140        150
DFASTVRILE VVKDKAGPHK EIYPYVIQEL RPTLNELGIS TPEELGLDKV
Length:150
Mass (Da):16,762
Last modified:December 16, 2008 - 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:i104DAF468BD302FC
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BNX8H3BNX8_HUMAN
Cytochrome c oxidase polypeptide Va
COX5A
153Annotation score:

Annotation score:2 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>
H3BRM5H3BRM5_HUMAN
Cytochrome c oxidase polypeptide Va
COX5A
69Annotation score:

Annotation score:2 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>
H3BV69H3BV69_HUMAN
Cytochrome c oxidase polypeptide Va
COX5A
111Annotation score:

Annotation score:2 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>
H3BRI0H3BRI0_HUMAN
Cytochrome c oxidase polypeptide Va
COX5A
84Annotation score:

Annotation score:2 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 conflicti105T → L in AAA99220 (PubMed:2853101).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078264107R → C in MC4DN20; decreased protein abundance in patient fibroblasts; decreased proteins abundance of mitochondrial respiratory chain complex IV in patient fibroblasts; no effect on respiratory chain complex IV assembly in patient fibroblasts; increased protein abundance of S1 complex IV intermediate in patient fibroblasts. 1 Publication1

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
M22760 mRNA Translation: AAA99220.1
DQ987236 mRNA Translation: ABK92283.1
DQ987237 mRNA Translation: ABK92284.1
CR407649 mRNA Translation: CAG28577.1
AC125435 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99288.1
BC024240 mRNA Translation: AAH24240.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10273.1

Protein sequence database of the Protein Information Resource

More...PIRi		JT0342, OTHU5A

NCBI Reference Sequences

More...RefSeqi		NP_004246.2, NM_004255.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000322347; ENSP00000317780; ENSG00000178741
ENST00000564811; ENSP00000456386; ENSG00000178741

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9377

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9377

UCSC genome browser

More...UCSCi		uc002azi.5, human

<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
M22760 mRNA Translation: AAA99220.1
DQ987236 mRNA Translation: ABK92283.1
DQ987237 mRNA Translation: ABK92284.1
CR407649 mRNA Translation: CAG28577.1
AC125435 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99288.1
BC024240 mRNA Translation: AAH24240.1
CCDSiCCDS10273.1
PIRiJT0342, OTHU5A
RefSeqiNP_004246.2, NM_004255.3

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
5Z62electron microscopy3.60E42-150[»]
SMRiP20674
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114778, 193 interactors
ComplexPortaliCPX-6123, Mitochondrial respiratory chain complex IV
CORUMiP20674
IntActiP20674, 59 interactors
MINTiP20674
STRINGi9606.ENSP00000317780

Chemistry databases

DrugBankiDB02659, Cholic Acid
DB04464, N-Formylmethionine

Protein family/group databases

TCDBi3.D.4.11.1, the proton-translocating cytochrome oxidase (cox) superfamily

PTM databases

GlyGeniP20674, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP20674
PhosphoSitePlusiP20674
SwissPalmiP20674

Genetic variation databases

BioMutaiCOX5A
DMDMi218511986

2D gel databases

DOSAC-COBS-2DPAGEiP20674
OGPiP20674
SWISS-2DPAGEiP20674
UCD-2DPAGEiP20674

Proteomic databases

EPDiP20674
jPOSTiP20674
MassIVEiP20674
MaxQBiP20674
PaxDbiP20674
PeptideAtlasiP20674
PRIDEiP20674
ProteomicsDBi53772
TopDownProteomicsiP20674

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27166, 359 antibodies

The DNASU plasmid repository

More...DNASUi		9377

Genome annotation databases

EnsembliENST00000322347; ENSP00000317780; ENSG00000178741
ENST00000564811; ENSP00000456386; ENSG00000178741
GeneIDi9377
KEGGihsa:9377
UCSCiuc002azi.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9377
DisGeNETi9377

GeneCards: human genes, protein and diseases

More...GeneCardsi		COX5A
HGNCiHGNC:2267, COX5A
HPAiENSG00000178741, Tissue enhanced (heart muscle, skeletal muscle)
MalaCardsiCOX5A
MIMi603773, gene
619064, phenotype
neXtProtiNX_P20674
OpenTargetsiENSG00000178741
Orphaneti254905, Isolated cytochrome C oxidase deficiency
PharmGKBiPA26784
VEuPathDBiHostDB:ENSG00000178741

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4077, Eukaryota
GeneTreeiENSGT00390000001424
HOGENOMiCLU_099086_1_1_1
InParanoidiP20674
OMAiGHHEDET
OrthoDBi1286549at2759
PhylomeDBiP20674
TreeFamiTF105062

Enzyme and pathway databases

UniPathwayiUPA00705
BioCyciMetaCyc:HS11312-MONOMER
PathwayCommonsiP20674
ReactomeiR-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-611105, Respiratory electron transport
R-HSA-9707564, Cytoprotection by HMOX1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9377, 407 hits in 1019 CRISPR screens

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

More...ChiTaRSi		COX5A, human

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

More...GenomeRNAii		9377
PharosiP20674, Tbio

Protein Ontology

More...PROi		PR:P20674
RNActiP20674, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000178741, Expressed in heart left ventricle and 247 other tissues
ExpressionAtlasiP20674, baseline and differential
GenevisibleiP20674, HS

Family and domain databases

CDDicd00923, Cyt_c_Oxidase_Va, 1 hit
Gene3Di1.25.40.40, 1 hit
InterProiView protein in InterPro
IPR003204, Cyt_c_oxidase_su5A/6
IPR036545, Cyt_c_oxidase_su5A/6_sf
PANTHERiPTHR14200, PTHR14200, 1 hit
PfamiView protein in Pfam
PF02284, COX5A, 1 hit
SUPFAMiSSF48479, SSF48479, 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 nameiCOX5A_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: P20674
Secondary accession number(s): P30045, Q8TB65
<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: February 1, 1991
Last sequence update: December 16, 2008
Last modified: September 29, 2021
This is version 191 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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