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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

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.

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:rs387907099Ensembl.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.

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.
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

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.
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:rs387907099Ensembl.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: September 27, 2017
This is version 103 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