Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

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
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:33848. COA5.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: HPA
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.

See also OMIM:220110
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531A → P in MT-C4D. 1 Publication
VAR_065499

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi220110. phenotype.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA162379390.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 7474Cytochrome c oxidase assembly factor 5PRO_0000325876Add
BLAST

Proteomic databases

MaxQBiQ86WW8.
PaxDbiQ86WW8.
PeptideAtlasiQ86WW8.
PRIDEiQ86WW8.

Expressioni

Gene expression databases

BgeeiQ86WW8.
CleanExiHS_C2orf64.
ExpressionAtlasiQ86WW8. baseline and differential.
GenevestigatoriQ86WW8.

Organism-specific databases

HPAiHPA057768.

Interactioni

Protein-protein interaction databases

BioGridi138902. 2 interactions.
IntActiQ86WW8. 1 interaction.
MINTiMINT-4786653.

Structurei

3D structure databases

ProteinModelPortaliQ86WW8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PET191 family.Curated

Phylogenomic databases

eggNOGiNOG284465.
GeneTreeiENSGT00390000005548.
HOVERGENiHBG107093.
InParanoidiQ86WW8.
KOiK18178.
OMAiMRYEGNE.
PhylomeDBiQ86WW8.
TreeFamiTF313953.

Family and domain databases

InterProiIPR018793. Cyt_c_oxidase_assmbl_Pet191.
[Graphical view]
PfamiPF10203. Pet191_N. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531A → P in MT-C4D. 1 Publication
VAR_065499

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.3. human.

Polymorphism databases

DMDMi74727729.

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 interactions.
IntActiQ86WW8. 1 interaction.
MINTiMINT-4786653.

Polymorphism databases

DMDMi74727729.

Proteomic databases

MaxQBiQ86WW8.
PaxDbiQ86WW8.
PeptideAtlasiQ86WW8.
PRIDEiQ86WW8.

Protocols and materials databases

DNASUi493753.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328709; ENSP00000330730; ENSG00000183513.
GeneIDi493753.
KEGGihsa:493753.
UCSCiuc002syz.3. human.

Organism-specific databases

CTDi493753.
GeneCardsiGC02M099216.
HGNCiHGNC:33848. COA5.
HPAiHPA057768.
MIMi220110. phenotype.
613920. gene.
neXtProtiNX_Q86WW8.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA162379390.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG284465.
GeneTreeiENSGT00390000005548.
HOVERGENiHBG107093.
InParanoidiQ86WW8.
KOiK18178.
OMAiMRYEGNE.
PhylomeDBiQ86WW8.
TreeFamiTF313953.

Miscellaneous databases

GenomeRNAii493753.
NextBioi111737.
PROiQ86WW8.
SOURCEiSearch...

Gene expression databases

BgeeiQ86WW8.
CleanExiHS_C2orf64.
ExpressionAtlasiQ86WW8. baseline and differential.
GenevestigatoriQ86WW8.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  4. Cited for: VARIANT MT-C4D PRO-53, FUNCTION.

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: March 4, 2015
This is version 84 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

External Data

Dasty 3

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 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.