CQ10A_HUMAN
ID CQ10A_HUMAN Reviewed; 247 AA.
AC Q96MF6; Q6GMR6; Q6UWB9; Q86X16; Q8TAL2; Q96MF1; Q9BUP4;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2006, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Coenzyme Q-binding protein COQ10 homolog A, mitochondrial;
DE Flags: Precursor;
GN Name=COQ10A; ORFNames=UNQ6192/PRO20219;
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 MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Skeletal muscle;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP HIS-79.
RC TISSUE=Brain, Colon, Mammary gland, and Skin;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-247 (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP PROBABLE FUNCTION.
RX PubMed=16230336; DOI=10.1074/jbc.m510768200;
RA Barros M.H., Johnson A., Gin P., Marbois B.N., Clarke C.F., Tzagoloff A.;
RT "The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein
RT required for function of coenzyme Q in respiration.";
RL J. Biol. Chem. 280:42627-42635(2005).
CC -!- FUNCTION: Required for the function of coenzyme Q in the respiratory
CC chain. May serve as a chaperone or may be involved in the transport of
CC Q6 from its site of synthesis to the catalytic sites of the respiratory
CC complexes (Probable). {ECO:0000305}.
CC -!- SUBUNIT: Interacts with coenzyme Q. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250};
CC Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96MF6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96MF6-2; Sequence=VSP_017685;
CC Name=3;
CC IsoId=Q96MF6-3; Sequence=VSP_046918;
CC -!- SIMILARITY: Belongs to the COQ10 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH26922.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAQ89220.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK057003; BAB71339.1; -; mRNA.
DR EMBL; AK057014; BAB71344.1; -; mRNA.
DR EMBL; BC002435; AAH02435.2; -; mRNA.
DR EMBL; BC026922; AAH26922.1; ALT_INIT; mRNA.
DR EMBL; BC047444; AAH47444.1; -; mRNA.
DR EMBL; BC073923; AAH73923.1; -; mRNA.
DR EMBL; AY358861; AAQ89220.1; ALT_INIT; mRNA.
DR CCDS; CCDS41796.1; -. [Q96MF6-1]
DR CCDS; CCDS44921.1; -. [Q96MF6-3]
DR RefSeq; NP_001092807.1; NM_001099337.1. [Q96MF6-3]
DR RefSeq; NP_653177.3; NM_144576.3. [Q96MF6-1]
DR AlphaFoldDB; Q96MF6; -.
DR SMR; Q96MF6; -.
DR BioGRID; 124997; 3.
DR IntAct; Q96MF6; 7.
DR MINT; Q96MF6; -.
DR STRING; 9606.ENSP00000312587; -.
DR GlyGen; Q96MF6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96MF6; -.
DR PhosphoSitePlus; Q96MF6; -.
DR BioMuta; COQ10A; -.
DR DMDM; 90111993; -.
DR jPOST; Q96MF6; -.
DR MassIVE; Q96MF6; -.
DR MaxQB; Q96MF6; -.
DR PaxDb; Q96MF6; -.
DR PeptideAtlas; Q96MF6; -.
DR PRIDE; Q96MF6; -.
DR ProteomicsDB; 77348; -. [Q96MF6-1]
DR ProteomicsDB; 77349; -. [Q96MF6-2]
DR Antibodypedia; 43794; 21 antibodies from 13 providers.
DR DNASU; 93058; -.
DR Ensembl; ENST00000308197.10; ENSP00000312587.5; ENSG00000135469.14. [Q96MF6-1]
DR Ensembl; ENST00000433805.6; ENSP00000407843.2; ENSG00000135469.14. [Q96MF6-3]
DR Ensembl; ENST00000546544.5; ENSP00000446723.1; ENSG00000135469.14. [Q96MF6-2]
DR GeneID; 93058; -.
DR KEGG; hsa:93058; -.
DR MANE-Select; ENST00000308197.10; ENSP00000312587.5; NM_144576.4; NP_653177.3.
DR UCSC; uc001sko.5; human. [Q96MF6-1]
DR CTD; 93058; -.
DR DisGeNET; 93058; -.
DR GeneCards; COQ10A; -.
DR HGNC; HGNC:26515; COQ10A.
DR HPA; ENSG00000135469; Group enriched (heart muscle, skeletal muscle, tongue).
DR neXtProt; NX_Q96MF6; -.
DR OpenTargets; ENSG00000135469; -.
DR PharmGKB; PA143485439; -.
DR VEuPathDB; HostDB:ENSG00000135469; -.
DR eggNOG; KOG3177; Eukaryota.
DR GeneTree; ENSGT00940000160056; -.
DR HOGENOM; CLU_079653_0_0_1; -.
DR InParanoid; Q96MF6; -.
DR OMA; YIDGPFK; -.
DR OrthoDB; 1517528at2759; -.
DR PhylomeDB; Q96MF6; -.
DR TreeFam; TF314447; -.
DR PathwayCommons; Q96MF6; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR SignaLink; Q96MF6; -.
DR BioGRID-ORCS; 93058; 13 hits in 1076 CRISPR screens.
DR GenomeRNAi; 93058; -.
DR Pharos; Q96MF6; Tdark.
DR PRO; PR:Q96MF6; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96MF6; protein.
DR Bgee; ENSG00000135469; Expressed in left ventricle myocardium and 164 other tissues.
DR ExpressionAtlas; Q96MF6; baseline and differential.
DR Genevisible; Q96MF6; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0048039; F:ubiquinone binding; IBA:GO_Central.
DR GO; GO:0045333; P:cellular respiration; IBA:GO_Central.
DR GO; GO:0006744; P:ubiquinone biosynthetic process; IBA:GO_Central.
DR CDD; cd07813; COQ10p_like; 1.
DR Gene3D; 3.30.530.20; -; 1.
DR InterPro; IPR044996; COQ10-like.
DR InterPro; IPR005031; COQ10_START.
DR InterPro; IPR023393; START-like_dom_sf.
DR PANTHER; PTHR12901; PTHR12901; 1.
DR Pfam; PF03364; Polyketide_cyc; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transit peptide.
FT TRANSIT 1..15
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 16..247
FT /note="Coenzyme Q-binding protein COQ10 homolog A,
FT mitochondrial"
FT /id="PRO_0000228644"
FT VAR_SEQ 1..45
FT /note="MAWAGSRRVPAGTRAAAERCCRLSLSPGAQPAPPPGPLPPPRPMR -> MLL
FT QVVREGKFSG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046918"
FT VAR_SEQ 1..44
FT /note="MAWAGSRRVPAGTRAAAERCCRLSLSPGAQPAPPPGPLPPPRPM -> MHSS
FT SPSPTNDRGLRRTIRLAPLSFGL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017685"
FT VARIANT 79
FT /note="P -> H (in dbSNP:rs11543258)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_025703"
FT VARIANT 231
FT /note="P -> S (in dbSNP:rs3184994)"
FT /id="VAR_048828"
FT CONFLICT 38
FT /note="L -> P (in Ref. 1; BAB71339)"
FT /evidence="ECO:0000305"
FT CONFLICT 202
FT /note="H -> R (in Ref. 1; BAB71339)"
FT /evidence="ECO:0000305"
FT CONFLICT 213
FT /note="V -> A (in Ref. 1; BAB71339)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 247 AA; 27686 MW; 148299DE0704A8B8 CRC64;
MAWAGSRRVP AGTRAAAERC CRLSLSPGAQ PAPPPGPLPP PRPMRFLTSC SLLLPRAAQI
LAAEAGLPSS RSFMGFAAPF TNKRKAYSER RIMGYSMQEM YEVVSNVQEY REFVPWCKKS
LVVSSRKGHL KAQLEVGFPP VMERYTSAVS MVKPHMVKAV CTDGKLFNHL ETIWRFSPGI
PAYPRTCTVD FSISFEFRSL LHSQLATMFF DEVVKQNVAA FERRAATKFG PETAIPRELM
FHEVHQT
