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Q86WW8 (COA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome c oxidase assembly factor 5
Gene names
Name:COA5
Synonyms:C2orf64
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length74 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in an early step of the mitochondrial complex IV assembly process. Ref.4

Involvement in disease

Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the PET191 family.

Ontologies

Keywords
   DiseaseDisease mutation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from direct assay. Source: HPA

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 7474Cytochrome c oxidase assembly factor 5
PRO_0000325876

Natural variations

Natural variant531A → P in MT-C4D. Ref.4
VAR_065499

Sequences

Sequence LengthMass (Da)Tools
Q86WW8 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: CE4D3FF94332B2A9

FASTA748,376
        10         20         30         40         50         60 
MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL KYAFFECKRS 

        70 
VLDNRARFRG RKGY 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pancreas.
[4]"A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy."
Huigsloot M., Nijtmans L.G., Szklarczyk R., Baars M.J., van den Brand M.A., Hendriksfranssen M.G., van den Heuvel L.P., Smeitink J.A., Huynen M.A., Rodenburg R.J.
Am. J. Hum. Genet. 88:488-493(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MT-C4D PRO-53, FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC010134 Genomic DNA. Translation: AAX93231.1.
CH471127 Genomic DNA. Translation: EAX01903.1.
BC047722 mRNA. Translation: AAH47722.1.
CCDSCCDS33257.1.
RefSeqNP_001008216.1. NM_001008215.2.
UniGeneHs.596537.

3D structure databases

ProteinModelPortalQ86WW8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid138902. 1 interaction.
IntActQ86WW8. 1 interaction.
MINTMINT-4786653.

Polymorphism databases

DMDM74727729.

Proteomic databases

MaxQBQ86WW8.
PaxDbQ86WW8.
PeptideAtlasQ86WW8.
PRIDEQ86WW8.

Protocols and materials databases

DNASU493753.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328709; ENSP00000330730; ENSG00000183513.
GeneID493753.
KEGGhsa:493753.
UCSCuc002syz.3. human.

Organism-specific databases

CTD493753.
GeneCardsGC02M099216.
HGNCHGNC:33848. COA5.
HPAHPA049563.
HPA057768.
MIM220110. phenotype.
613920. gene.
neXtProtNX_Q86WW8.
Orphanet254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBPA162379390.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284465.
HOVERGENHBG107093.
InParanoidQ86WW8.
KOK18178.
OMANTFFECK.
PhylomeDBQ86WW8.
TreeFamTF313953.

Gene expression databases

ArrayExpressQ86WW8.
BgeeQ86WW8.
CleanExHS_C2orf64.
GenevestigatorQ86WW8.

Family and domain databases

InterProIPR018793. Cyt_c_oxidase_assmbl_Pet191.
[Graphical view]
PfamPF10203. Pet191_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi493753.
NextBio111737.
PROQ86WW8.
SOURCESearch...

Entry information

Entry nameCOA5_HUMAN
AccessionPrimary (citable) accession number: Q86WW8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: June 1, 2003
Last modified: July 9, 2014
This is version 79 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM