UniProtKB - Q86WW8 (COA5_HUMAN)
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Protein
Cytochrome c oxidase assembly factor 5
Gene
COA5
Organism
Homo sapiens (Human)
Status
Functioni
Involved in an early step of the mitochondrial complex IV assembly process.1 Publication
GO - Biological processi
- mitochondrial respiratory chain complex IV assembly Source: GO_Central
Names & Taxonomyi
Protein namesi | Recommended name: Cytochrome c oxidase assembly factor 5 |
Gene namesi | Name:COA5 Synonyms:C2orf64 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000183513.8. |
HGNCi | HGNC:33848. COA5. |
MIMi | 613920. gene. |
neXtProti | NX_Q86WW8. |
Subcellular locationi
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:616500Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065499 | 53 | A → P in CEMCOX3. 1 PublicationCorresponds to variant dbSNP:rs387907099Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 493753. |
MalaCardsi | COA5. |
MIMi | 616500. phenotype. |
OpenTargetsi | ENSG00000183513. |
Orphaneti | 254905. Isolated cytochrome C oxidase deficiency. 70474. Leigh syndrome with cardiomyopathy. |
PharmGKBi | PA162379390. |
Polymorphism and mutation databases
BioMutai | COA5. |
DMDMi | 74727729. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000325876 | 1 – 74 | Cytochrome c oxidase assembly factor 5Add BLAST | 74 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 30 ↔ 57 | PROSITE-ProRule annotation | ||
Modified residuei | 37 | PhosphoserineCombined sources | 1 | |
Disulfide bondi | 41 ↔ 47 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, PhosphoproteinProteomic databases
EPDi | Q86WW8. |
MaxQBi | Q86WW8. |
PaxDbi | Q86WW8. |
PeptideAtlasi | Q86WW8. |
PRIDEi | Q86WW8. |
PTM databases
iPTMneti | Q86WW8. |
PhosphoSitePlusi | Q86WW8. |
Expressioni
Gene expression databases
Bgeei | ENSG00000183513. |
CleanExi | HS_C2orf64. |
ExpressionAtlasi | Q86WW8. baseline and differential. |
Genevisiblei | Q86WW8. HS. |
Organism-specific databases
HPAi | HPA057768. |
Interactioni
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
KRT31 | Q15323 | 3 | EBI-5458774,EBI-948001 |
Protein-protein interaction databases
BioGridi | 138902. 3 interactors. |
IntActi | Q86WW8. 4 interactors. |
MINTi | Q86WW8. |
STRINGi | 9606.ENSP00000330730. |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 27 – 65 | CHCHPROSITE-ProRule annotationAdd BLAST | 39 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 30 – 41 | Cx10C motifPROSITE-ProRule annotationAdd BLAST | 12 | |
Motifi | 47 – 57 | Cx9C motifPROSITE-ProRule annotationAdd BLAST | 11 |
Sequence similaritiesi
Belongs to the PET191 family.Curated
Phylogenomic databases
eggNOGi | KOG4114. Eukaryota. ENOG4111YIY. LUCA. |
GeneTreei | ENSGT00390000005548. |
HOVERGENi | HBG107093. |
InParanoidi | Q86WW8. |
KOi | K18178. |
OMAi | DMRSRFR. |
OrthoDBi | EOG091G0ZD7. |
PhylomeDBi | Q86WW8. |
TreeFami | TF313953. |
Family and domain databases
InterProi | View protein in InterPro IPR018793. Cyt_c_oxidase_assmbl_Pet191. |
PANTHERi | PTHR28627. PTHR28627. 1 hit. |
Pfami | View protein in Pfam PF10203. Pet191_N. 1 hit. |
PROSITEi | View protein in PROSITE PS51808. CHCH. 1 hit. |
i Sequence
Sequence statusi: Complete.
Q86WW8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL
60 70
KYAFFECKRS VLDNRARFRG RKGY
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065499 | 53 | A → 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. |
CCDSi | CCDS33257.1. |
RefSeqi | NP_001008216.1. NM_001008215.2. |
UniGenei | Hs.596537. |
Genome annotation databases
Ensembli | ENST00000328709; ENSP00000330730; ENSG00000183513. |
GeneIDi | 493753. |
KEGGi | hsa:493753. |
UCSCi | uc002syz.4. human. |
Similar proteinsi
Entry informationi
Entry namei | COA5_HUMAN | |
Accessioni | Q86WW8Primary (citable) accession number: Q86WW8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | June 1, 2003 | |
Last modified: | February 28, 2018 | |
This is version 105 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |