COX7R_HUMAN
ID COX7R_HUMAN Reviewed; 114 AA.
AC O14548; Q9P118;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2002, sequence version 2.
DT 03-AUG-2022, entry version 184.
DE RecName: Full=Cytochrome c oxidase subunit 7A-related protein, mitochondrial;
DE AltName: Full=COX7a-related protein;
DE AltName: Full=Cytochrome c oxidase subunit VIIa-related protein;
DE AltName: Full=EB1;
DE Flags: Precursor;
GN Name=COX7A2L; Synonyms=COX7AR, COX7RP;
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].
RC TISSUE=Placenta;
RX PubMed=9418891; DOI=10.1128/mcb.18.1.442;
RA Watanabe T., Inoue S., Hiroi H., Orimo A., Kawashima H., Muramatsu M.;
RT "Isolation of estrogen-responsive genes with a CpG island library.";
RL Mol. Cell. Biol. 18:442-449(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10335655; DOI=10.1093/oxfordjournals.molbev.a026144;
RA Schmidt T.R., Goodman M., Grossman L.I.;
RT "Molecular evolution of the COX7A gene family in primates.";
RL Mol. Biol. Evol. 16:619-626(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11156535; DOI=10.1086/318197;
RA Lee N., Daly M.J., Delmonte T., Lander E.S., Xu F., Hudson T.J.,
RA Mitchell G.A., Morin C.C., Robinson B.H., Rioux J.D.;
RT "A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-
RT Jean cytochrome oxidase deficiency to 2p16.";
RL Am. J. Hum. Genet. 68:397-409(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, and Prostate;
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 [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-69, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
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).
CC -!- FUNCTION: Involved in the regulation of oxidative phosphorylation and
CC energy metabolism (By similarity). Necessary for the assembly of
CC mitochondrial respiratory supercomplex (By similarity).
CC {ECO:0000250|UniProtKB:Q61387}.
CC -!- SUBUNIT: Interacts with the mitochondrial respiratory supercomplex.
CC {ECO:0000250|UniProtKB:Q61387}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
CC -!- INDUCTION: By estrogen.
CC -!- SIMILARITY: Belongs to the cytochrome c oxidase VIIa family.
CC {ECO:0000305}.
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DR EMBL; AB007618; BAA22571.1; -; mRNA.
DR EMBL; AF127788; AAF72746.1; -; mRNA.
DR EMBL; AY007643; AAG32129.1; -; Genomic_DNA.
DR EMBL; BT007371; AAP36035.1; -; mRNA.
DR EMBL; BC005251; AAH05251.1; -; mRNA.
DR EMBL; BC007095; AAH07095.1; -; mRNA.
DR CCDS; CCDS1808.1; -.
DR RefSeq; NP_001305965.1; NM_001319036.1.
DR RefSeq; NP_001305969.1; NM_001319040.1.
DR RefSeq; NP_004709.2; NM_004718.3.
DR AlphaFoldDB; O14548; -.
DR SMR; O14548; -.
DR BioGRID; 114608; 82.
DR IntAct; O14548; 14.
DR MINT; O14548; -.
DR STRING; 9606.ENSP00000367938; -.
DR iPTMnet; O14548; -.
DR PhosphoSitePlus; O14548; -.
DR SwissPalm; O14548; -.
DR BioMuta; COX7A2L; -.
DR EPD; O14548; -.
DR jPOST; O14548; -.
DR MassIVE; O14548; -.
DR PaxDb; O14548; -.
DR PeptideAtlas; O14548; -.
DR PRIDE; O14548; -.
DR ProteomicsDB; 48081; -.
DR TopDownProteomics; O14548; -.
DR Antibodypedia; 29742; 159 antibodies from 28 providers.
DR DNASU; 9167; -.
DR Ensembl; ENST00000234301.3; ENSP00000234301.2; ENSG00000115944.15.
DR Ensembl; ENST00000378669.5; ENSP00000367938.1; ENSG00000115944.15.
DR GeneID; 9167; -.
DR KEGG; hsa:9167; -.
DR MANE-Select; ENST00000234301.3; ENSP00000234301.2; NM_004718.4; NP_004709.2.
DR CTD; 9167; -.
DR DisGeNET; 9167; -.
DR GeneCards; COX7A2L; -.
DR HGNC; HGNC:2289; COX7A2L.
DR HPA; ENSG00000115944; Low tissue specificity.
DR MIM; 605771; gene.
DR neXtProt; NX_O14548; -.
DR OpenTargets; ENSG00000115944; -.
DR PharmGKB; PA26807; -.
DR VEuPathDB; HostDB:ENSG00000115944; -.
DR eggNOG; ENOG502S14M; Eukaryota.
DR GeneTree; ENSGT00940000154815; -.
DR HOGENOM; CLU_149431_0_0_1; -.
DR InParanoid; O14548; -.
DR OMA; YPKYDYA; -.
DR OrthoDB; 1548349at2759; -.
DR PhylomeDB; O14548; -.
DR TreeFam; TF105067; -.
DR PathwayCommons; O14548; -.
DR Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-9707564; Cytoprotection by HMOX1.
DR SignaLink; O14548; -.
DR BioGRID-ORCS; 9167; 16 hits in 1077 CRISPR screens.
DR ChiTaRS; COX7A2L; human.
DR GeneWiki; COX7A2L; -.
DR GenomeRNAi; 9167; -.
DR Pharos; O14548; Tbio.
DR PRO; PR:O14548; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; O14548; protein.
DR Bgee; ENSG00000115944; Expressed in endothelial cell and 211 other tissues.
DR ExpressionAtlas; O14548; baseline and differential.
DR Genevisible; O14548; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005746; C:mitochondrial respirasome; IBA:GO_Central.
DR GO; GO:0005751; C:mitochondrial respiratory chain complex IV; IEA:InterPro.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0004129; F:cytochrome-c oxidase activity; TAS:ProtInc.
DR GO; GO:0006123; P:mitochondrial electron transport, cytochrome c to oxygen; IEA:InterPro.
DR GO; GO:0097250; P:mitochondrial respirasome assembly; IBA:GO_Central.
DR GO; GO:0002082; P:regulation of oxidative phosphorylation; IBA:GO_Central.
DR CDD; cd00928; Cyt_c_Oxidase_VIIa; 1.
DR Gene3D; 4.10.91.10; -; 1.
DR InterPro; IPR039297; COX7a.
DR InterPro; IPR017267; Cyt_c_oxidase_su7a-rel_mt.
DR InterPro; IPR036539; Cyt_c_oxidase_su7a_sf.
DR InterPro; IPR003177; Cytc_oxidase_su7a_met.
DR PANTHER; PTHR10510; PTHR10510; 1.
DR PANTHER; PTHR10510:SF2; PTHR10510:SF2; 1.
DR Pfam; PF02238; COX7a; 1.
DR PIRSF; PIRSF037710; COX7A-rel_mt; 1.
DR SUPFAM; SSF81419; SSF81419; 1.
PE 1: Evidence at protein level;
KW Acetylation; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Reference proteome; Transit peptide.
FT TRANSIT 1..55
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 56..114
FT /note="Cytochrome c oxidase subunit 7A-related protein,
FT mitochondrial"
FT /id="PRO_0000006154"
FT MOD_RES 69
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT CONFLICT 107
FT /note="M -> N (in Ref. 1; BAA22571)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 114 AA; 12615 MW; 67BCABEEAE0F552B CRC64;
MYYKFSGFTQ KLAGAWASEA YSPQGLKPVV STEAPPIIFA TPTKLTSDST VYDYAGKNKV
PELQKFFQKA DGVPVYLKRG LPDQMLYRTT MALTVGGTIY CLIALYMASQ PKNK
