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Protein

Cytochrome c oxidase assembly factor 5

Gene

COA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in an early step of the mitochondrial complex IV assembly process.1 Publication

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly factor 5
Gene namesi
Name:COA5
Synonyms:C2orf64
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000183513.8
HGNCiHGNC:33848 COA5
MIMi613920 gene
neXtProtiNX_Q86WW8

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; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation.
See also OMIM:616500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06549953A → P in CEMCOX3. 1 PublicationCorresponds to variant dbSNP:rs387907099EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi493753
MalaCardsiCOA5
MIMi616500 phenotype
OpenTargetsiENSG00000183513
Orphaneti254905 Isolated cytochrome C oxidase deficiency
70474 Leigh syndrome with cardiomyopathy
PharmGKBiPA162379390

Polymorphism and mutation databases

BioMutaiCOA5
DMDMi74727729

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003258761 – 74Cytochrome c oxidase assembly factor 5Add BLAST74

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi30 ↔ 57PROSITE-ProRule annotation
Modified residuei37PhosphoserineCombined sources1
Disulfide bondi41 ↔ 47PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiQ86WW8
MaxQBiQ86WW8
PaxDbiQ86WW8
PeptideAtlasiQ86WW8
PRIDEiQ86WW8
ProteomicsDBi70213

PTM databases

iPTMnetiQ86WW8
PhosphoSitePlusiQ86WW8

Expressioni

Gene expression databases

BgeeiENSG00000183513
CleanExiHS_C2orf64
ExpressionAtlasiQ86WW8 baseline and differential
GenevisibleiQ86WW8 HS

Organism-specific databases

HPAiHPA057768

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT31Q153233EBI-5458774,EBI-948001

Protein-protein interaction databases

BioGridi138902, 3 interactors
IntActiQ86WW8, 4 interactors
MINTiQ86WW8
STRINGi9606.ENSP00000330730

Structurei

3D structure databases

ProteinModelPortaliQ86WW8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 65CHCHPROSITE-ProRule annotationAdd BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi30 – 41Cx10C motifPROSITE-ProRule annotationAdd BLAST12
Motifi47 – 57Cx9C motifPROSITE-ProRule annotationAdd BLAST11

Sequence similaritiesi

Belongs to the PET191 family.Curated

Phylogenomic databases

eggNOGiKOG4114 Eukaryota
ENOG4111YIY LUCA
GeneTreeiENSGT00390000005548
HOVERGENiHBG107093
InParanoidiQ86WW8
KOiK18178
OMAiDMRSRFR
OrthoDBiEOG091G0ZD7
PhylomeDBiQ86WW8
TreeFamiTF313953

Family and domain databases

InterProiView protein in InterPro
IPR018793 Cyt_c_oxidase_assmbl_Pet191
PANTHERiPTHR28627 PTHR28627, 1 hit
PfamiView protein in Pfam
PF10203 Pet191_N, 1 hit
PROSITEiView protein in PROSITE
PS51808 CHCH, 1 hit

Sequencei

Sequence statusi: Complete.

Q86WW8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL
60 70
KYAFFECKRS VLDNRARFRG RKGY
Length:74
Mass (Da):8,376
Last modified:June 1, 2003 - v1
Checksum:iCE4D3FF94332B2A9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06549953A → P in CEMCOX3. 1 PublicationCorresponds to variant dbSNP:rs387907099EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010134 Genomic DNA Translation: AAX93231.1
CH471127 Genomic DNA Translation: EAX01903.1
BC047722 mRNA Translation: AAH47722.1
CCDSiCCDS33257.1
RefSeqiNP_001008216.1, NM_001008215.2
UniGeneiHs.596537

Genome annotation databases

EnsembliENST00000328709; ENSP00000330730; ENSG00000183513
GeneIDi493753
KEGGihsa:493753
UCSCiuc002syz.4 human

Similar proteinsi

Entry informationi

Entry nameiCOA5_HUMAN
AccessioniPrimary (citable) accession number: Q86WW8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: June 1, 2003
Last modified: June 20, 2018
This is version 106 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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