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Protein

Cytochrome c oxidase assembly factor 5

Gene

COA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31419-MONOMER.

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

HGNCiHGNC:33848. COA5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs387907099dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

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.

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. 2 interactors.
IntActiQ86WW8. 4 interactors.
MINTiMINT-4786653.
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
Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4114. Eukaryota.
ENOG4111YIY. LUCA.
GeneTreeiENSGT00390000005548.
HOVERGENiHBG107093.
InParanoidiQ86WW8.
KOiK18178.
OMAiLLESECC.
OrthoDBiEOG091G0ZD7.
PhylomeDBiQ86WW8.
TreeFamiTF313953.

Family and domain databases

InterProiIPR018793. Cyt_c_oxidase_assmbl_Pet191.
[Graphical view]
PfamiPF10203. Pet191_N. 1 hit.
[Graphical view]
PROSITEiPS51808. CHCH. 1 hit.
[Graphical view]

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 rs387907099dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ86WW8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi138902. 2 interactors.
IntActiQ86WW8. 4 interactors.
MINTiMINT-4786653.
STRINGi9606.ENSP00000330730.

PTM databases

iPTMnetiQ86WW8.
PhosphoSitePlusiQ86WW8.

Polymorphism and mutation databases

BioMutaiCOA5.
DMDMi74727729.

Proteomic databases

EPDiQ86WW8.
MaxQBiQ86WW8.
PaxDbiQ86WW8.
PeptideAtlasiQ86WW8.
PRIDEiQ86WW8.

Protocols and materials databases

DNASUi493753.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi493753.
DisGeNETi493753.
GeneCardsiCOA5.
HGNCiHGNC:33848. COA5.
HPAiHPA057768.
MalaCardsiCOA5.
MIMi613920. gene.
616500. phenotype.
neXtProtiNX_Q86WW8.
OpenTargetsiENSG00000183513.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA162379390.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4114. Eukaryota.
ENOG4111YIY. LUCA.
GeneTreeiENSGT00390000005548.
HOVERGENiHBG107093.
InParanoidiQ86WW8.
KOiK18178.
OMAiLLESECC.
OrthoDBiEOG091G0ZD7.
PhylomeDBiQ86WW8.
TreeFamiTF313953.

Enzyme and pathway databases

BioCyciZFISH:G66-31419-MONOMER.

Miscellaneous databases

GenomeRNAii493753.
PROiQ86WW8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183513.
CleanExiHS_C2orf64.
ExpressionAtlasiQ86WW8. baseline and differential.
GenevisibleiQ86WW8. HS.

Family and domain databases

InterProiIPR018793. Cyt_c_oxidase_assmbl_Pet191.
[Graphical view]
PfamiPF10203. Pet191_N. 1 hit.
[Graphical view]
PROSITEiPS51808. CHCH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOA5_HUMAN
AccessioniPrimary (citable) accession number: Q86WW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: June 1, 2003
Last modified: November 30, 2016
This is version 98 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.