COA5_HUMAN
ID COA5_HUMAN Reviewed; 74 AA.
AC Q86WW8;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Cytochrome c oxidase assembly factor 5;
GN Name=COA5; Synonyms=C2orf64;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, INVOLVEMENT IN MC4DN9, AND VARIANT MC4DN9 PRO-53.
RX PubMed=21457908; DOI=10.1016/j.ajhg.2011.03.002;
RA Huigsloot M., Nijtmans L.G., Szklarczyk R., Baars M.J., van den Brand M.A.,
RA Hendriksfranssen M.G., van den Heuvel L.P., Smeitink J.A., Huynen M.A.,
RA Rodenburg R.J.;
RT "A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and
RT mitochondrial cardiomyopathy.";
RL Am. J. Hum. Genet. 88:488-493(2011).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-37, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Involved in an early step of the mitochondrial complex IV
CC assembly process. {ECO:0000269|PubMed:21457908}.
CC -!- INTERACTION:
CC Q86WW8; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-5458774, EBI-3867333;
CC Q86WW8; Q15323: KRT31; NbExp=3; IntAct=EBI-5458774, EBI-948001;
CC Q86WW8; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-5458774, EBI-11749135;
CC Q86WW8; P15884-3: TCF4; NbExp=3; IntAct=EBI-5458774, EBI-13636688;
CC -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 9 (MC4DN9)
CC [MIM:616500]: An autosomal recessive, infantile disorder with a fatal
CC course in the first weeks of life, and characterized by hypertrophic
CC cardiomyopathy and mitochondrial complex IV deficiency. Postmortem
CC microscopic investigations show accumulation of lipid droplets in
CC cardiomyocytes and mitochondrial proliferation.
CC {ECO:0000269|PubMed:21457908}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the PET191 family. {ECO:0000305}.
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DR EMBL; AC010134; AAX93231.1; -; Genomic_DNA.
DR EMBL; CH471127; EAX01903.1; -; Genomic_DNA.
DR EMBL; BC047722; AAH47722.1; -; mRNA.
DR CCDS; CCDS33257.1; -.
DR RefSeq; NP_001008216.1; NM_001008215.2.
DR AlphaFoldDB; Q86WW8; -.
DR SMR; Q86WW8; -.
DR BioGRID; 138902; 24.
DR IntAct; Q86WW8; 5.
DR MINT; Q86WW8; -.
DR STRING; 9606.ENSP00000330730; -.
DR iPTMnet; Q86WW8; -.
DR PhosphoSitePlus; Q86WW8; -.
DR BioMuta; COA5; -.
DR DMDM; 74727729; -.
DR EPD; Q86WW8; -.
DR jPOST; Q86WW8; -.
DR MassIVE; Q86WW8; -.
DR MaxQB; Q86WW8; -.
DR PaxDb; Q86WW8; -.
DR PeptideAtlas; Q86WW8; -.
DR PRIDE; Q86WW8; -.
DR ProteomicsDB; 70213; -.
DR Antibodypedia; 71495; 7 antibodies from 7 providers.
DR DNASU; 493753; -.
DR Ensembl; ENST00000328709.8; ENSP00000330730.3; ENSG00000183513.9.
DR GeneID; 493753; -.
DR KEGG; hsa:493753; -.
DR MANE-Select; ENST00000328709.8; ENSP00000330730.3; NM_001008215.3; NP_001008216.1.
DR UCSC; uc002syz.4; human.
DR CTD; 493753; -.
DR DisGeNET; 493753; -.
DR GeneCards; COA5; -.
DR HGNC; HGNC:33848; COA5.
DR HPA; ENSG00000183513; Low tissue specificity.
DR MalaCards; COA5; -.
DR MIM; 613920; gene.
DR MIM; 616500; phenotype.
DR neXtProt; NX_Q86WW8; -.
DR OpenTargets; ENSG00000183513; -.
DR Orphanet; 1561; Fatal infantile cytochrome C oxidase deficiency.
DR PharmGKB; PA162379390; -.
DR VEuPathDB; HostDB:ENSG00000183513; -.
DR eggNOG; KOG4114; Eukaryota.
DR GeneTree; ENSGT00390000005548; -.
DR HOGENOM; CLU_138069_2_2_1; -.
DR InParanoid; Q86WW8; -.
DR OMA; FRGPKGY; -.
DR OrthoDB; 1528980at2759; -.
DR PhylomeDB; Q86WW8; -.
DR TreeFam; TF313953; -.
DR PathwayCommons; Q86WW8; -.
DR SignaLink; Q86WW8; -.
DR BioGRID-ORCS; 493753; 261 hits in 1074 CRISPR screens.
DR GenomeRNAi; 493753; -.
DR Pharos; Q86WW8; Tdark.
DR PRO; PR:Q86WW8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q86WW8; protein.
DR Bgee; ENSG00000183513; Expressed in C1 segment of cervical spinal cord and 178 other tissues.
DR ExpressionAtlas; Q86WW8; baseline and differential.
DR Genevisible; Q86WW8; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IBA:GO_Central.
DR InterPro; IPR018793; Cyt_c_oxidase_assmbl_Pet191.
DR PANTHER; PTHR28627; PTHR28627; 1.
DR Pfam; PF10203; Pet191_N; 1.
DR PROSITE; PS51808; CHCH; 1.
PE 1: Evidence at protein level;
KW Disease variant; Disulfide bond; Phosphoprotein;
KW Primary mitochondrial disease; Reference proteome.
FT CHAIN 1..74
FT /note="Cytochrome c oxidase assembly factor 5"
FT /id="PRO_0000325876"
FT DOMAIN 27..65
FT /note="CHCH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 30..41
FT /note="Cx10C motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 47..57
FT /note="Cx9C motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOD_RES 37
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT DISULFID 30..57
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 41..47
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT VARIANT 53
FT /note="A -> P (in MC4DN9; dbSNP:rs387907099)"
FT /evidence="ECO:0000269|PubMed:21457908"
FT /id="VAR_065499"
SQ SEQUENCE 74 AA; 8376 MW; CE4D3FF94332B2A9 CRC64;
MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL KYAFFECKRS
VLDNRARFRG RKGY
