Q86WW8 (COA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cytochrome c oxidase assembly factor 5

Gene names

Name:	COA5
Synonyms:	C2orf64

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	74 AA.
Sequence status	Complete.
Protein existence	Evidence 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
Disease	Disease mutation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrion Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 74	74	Cytochrome c oxidase assembly factor 5		PRO_0000325876
Natural variations
	Natural variant	53	1	A → P in MT-C4D. Ref.4		VAR_065499

Sequences

	Sequence		Length	Mass (Da)
	Q86WW8 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: CE4D3FF94332B2A9	FASTA	74	8,376
	10 20 30 40 50 60 MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL KYAFFECKRS 70 VLDNRARFRG RKGY

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00400948.
RefSeq	NP_001008216.1. NM_001008215.2.
UniGene	Hs.596537.
3D structure databases
ProteinModelPortal	Q86WW8.
ModBase	Search...
Polymorphism databases
DMDM	74727729.
Proteomic databases
PaxDb	Q86WW8.
PeptideAtlas	Q86WW8.
PRIDE	Q86WW8.
Protocols and materials databases
DNASU	493753.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000328709; ENSP00000330730; ENSG00000183513.
GeneID	493753.
KEGG	hsa:493753.
UCSC	uc002syz.3. human.
Organism-specific databases
CTD	493753.
GeneCards	GC02M099216.
HGNC	HGNC:33848. COA5.
MIM	220110. phenotype. 613920. gene.
neXtProt	NX_Q86WW8.
Orphanet	254905. Isolated cytochrome C oxidase deficiency. 70474. Leigh syndrome with cardiomyopathy.
PharmGKB	PA162379390.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG284465.
HOVERGEN	HBG107093.
InParanoid	Q86WW8.
OMA	MRYEGNE.
OrthoDB	EOG49ZXQX.
PhylomeDB	Q86WW8.
Gene expression databases
ArrayExpress	Q86WW8.
Bgee	Q86WW8.
CleanEx	HS_C2orf64.
Genevestigator	Q86WW8.
Family and domain databases
InterPro	IPR018793. Cyt_c_oxidase_assmbl_Pet191. [Graphical view]
Pfam	PF10203. Pet191_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	493753.
NextBio	111737.
SOURCE	Search...

Entry information

Entry name

COA5_HUMAN

Accession

Primary (citable) accession number: Q86WW8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	June 1, 2003
Last modified:	May 1, 2013
This is version 70 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.