COA4_HUMAN
ID COA4_HUMAN Reviewed; 87 AA.
AC Q9NYJ1; B2RAA0; Q69YU4;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Cytochrome c oxidase assembly factor 4 homolog, mitochondrial;
DE AltName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 8;
DE AltName: Full=E2-induced gene 2 protein;
GN Name=COA4; Synonyms=CHCHD8, E2IG2;
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 [MRNA] (ISOFORM 2), AND INDUCTION.
RC TISSUE=Mammary cancer;
RX PubMed=11085516;
RA Charpentier A.H., Bednarek A.K., Daniel R.L., Hawkins K.A., Laflin K.J.,
RA Gaddis S., MacLeod M.C., Aldaz C.M.;
RT "Effects of estrogen on global gene expression: identification of novel
RT targets of estrogen action.";
RL Cancer Res. 60:5977-5983(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
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 [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY 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).
RN [9]
RP SUBCELLULAR LOCATION, AND DISULFIDE BONDS.
RX PubMed=23676665; DOI=10.1091/mbc.e12-12-0862;
RA Fischer M., Horn S., Belkacemi A., Kojer K., Petrungaro C., Habich M.,
RA Ali M., Kuettner V., Bien M., Kauff F., Dengjel J., Herrmann J.M.,
RA Riemer J.;
RT "Protein import and oxidative folding in the mitochondrial intermembrane
RT space of intact mammalian cells.";
RL Mol. Biol. Cell 24:2160-2170(2013).
CC -!- FUNCTION: Putative COX assembly factor. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23676665}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NYJ1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NYJ1-2; Sequence=VSP_030428;
CC -!- INDUCTION: Up-regulated by estrogen. {ECO:0000269|PubMed:11085516}.
CC -!- SIMILARITY: Belongs to the COA4 family. {ECO:0000305}.
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DR EMBL; AF242180; AAF60345.1; -; mRNA.
DR EMBL; AK314104; BAG36797.1; -; mRNA.
DR EMBL; AL359618; CAH10681.1; -; mRNA.
DR EMBL; AP002770; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471076; EAW74914.1; -; Genomic_DNA.
DR EMBL; CH471076; EAW74916.1; -; Genomic_DNA.
DR EMBL; BC106036; AAI06037.1; -; mRNA.
DR CCDS; CCDS8225.1; -. [Q9NYJ1-1]
DR RefSeq; NP_057649.2; NM_016565.2. [Q9NYJ1-1]
DR RefSeq; XP_016873372.1; XM_017017883.1. [Q9NYJ1-2]
DR RefSeq; XP_016873373.1; XM_017017884.1. [Q9NYJ1-1]
DR AlphaFoldDB; Q9NYJ1; -.
DR SMR; Q9NYJ1; -.
DR BioGRID; 119439; 48.
DR IntAct; Q9NYJ1; 1.
DR MINT; Q9NYJ1; -.
DR STRING; 9606.ENSP00000347919; -.
DR iPTMnet; Q9NYJ1; -.
DR PhosphoSitePlus; Q9NYJ1; -.
DR BioMuta; COA4; -.
DR DMDM; 166201912; -.
DR EPD; Q9NYJ1; -.
DR jPOST; Q9NYJ1; -.
DR MassIVE; Q9NYJ1; -.
DR MaxQB; Q9NYJ1; -.
DR PaxDb; Q9NYJ1; -.
DR PeptideAtlas; Q9NYJ1; -.
DR PRIDE; Q9NYJ1; -.
DR ProteomicsDB; 83235; -. [Q9NYJ1-1]
DR ProteomicsDB; 83236; -. [Q9NYJ1-2]
DR Antibodypedia; 50305; 100 antibodies from 17 providers.
DR DNASU; 51287; -.
DR Ensembl; ENST00000355693.5; ENSP00000347919.4; ENSG00000181924.7. [Q9NYJ1-1]
DR Ensembl; ENST00000537289.1; ENSP00000437772.1; ENSG00000181924.7. [Q9NYJ1-1]
DR Ensembl; ENST00000541455.1; ENSP00000440756.1; ENSG00000181924.7. [Q9NYJ1-2]
DR Ensembl; ENST00000545127.1; ENSP00000443795.1; ENSG00000181924.7. [Q9NYJ1-1]
DR GeneID; 51287; -.
DR KEGG; hsa:51287; -.
DR MANE-Select; ENST00000355693.5; ENSP00000347919.4; NM_016565.3; NP_057649.2.
DR UCSC; uc001ouj.4; human. [Q9NYJ1-1]
DR CTD; 51287; -.
DR GeneCards; COA4; -.
DR HGNC; HGNC:24604; COA4.
DR HPA; ENSG00000181924; Low tissue specificity.
DR MIM; 608016; gene.
DR neXtProt; NX_Q9NYJ1; -.
DR OpenTargets; ENSG00000181924; -.
DR PharmGKB; PA142672121; -.
DR VEuPathDB; HostDB:ENSG00000181924; -.
DR eggNOG; KOG4138; Eukaryota.
DR GeneTree; ENSGT00390000008503; -.
DR HOGENOM; CLU_169171_2_0_1; -.
DR InParanoid; Q9NYJ1; -.
DR OMA; QDWRRCQ; -.
DR OrthoDB; 1577308at2759; -.
DR PhylomeDB; Q9NYJ1; -.
DR TreeFam; TF328624; -.
DR PathwayCommons; Q9NYJ1; -.
DR Reactome; R-HSA-1268020; Mitochondrial protein import.
DR SignaLink; Q9NYJ1; -.
DR BioGRID-ORCS; 51287; 20 hits in 1073 CRISPR screens.
DR ChiTaRS; COA4; human.
DR GenomeRNAi; 51287; -.
DR Pharos; Q9NYJ1; Tbio.
DR PRO; PR:Q9NYJ1; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NYJ1; protein.
DR Bgee; ENSG00000181924; Expressed in right adrenal gland and 202 other tissues.
DR ExpressionAtlas; Q9NYJ1; baseline and differential.
DR Genevisible; Q9NYJ1; HS.
DR GO; GO:0005758; C:mitochondrial intermembrane space; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IEA:InterPro.
DR InterPro; IPR039870; Coa4-like.
DR PANTHER; PTHR13639; PTHR13639; 1.
DR PROSITE; PS51808; CHCH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Mitochondrion; Reference proteome.
FT CHAIN 1..87
FT /note="Cytochrome c oxidase assembly factor 4 homolog,
FT mitochondrial"
FT /id="PRO_0000314908"
FT DOMAIN 31..72
FT /note="CHCH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 68..87
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 34..44
FT /note="Cx9C motif 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 54..64
FT /note="Cx9C motif 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 34..64
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000305|PubMed:23676665"
FT DISULFID 44..54
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000305|PubMed:23676665"
FT VAR_SEQ 1
FT /note="M -> MFYRLPIPRM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11085516,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_030428"
SQ SEQUENCE 87 AA; 10134 MW; D6F137CACF7AAE6A CRC64;
MSTSVPQGHT WTQRVKKDDE EEDPLDQLIS RSGCAASHFA VQECMAQHQD WRQCQPQVQA
FKDCMSEQQA RRQEELQRRQ EQAGAHH
