ID   COQ9_HUMAN              Reviewed;         318 AA.
AC   O75208; A8K3L2; Q7L5V7; Q7Z5T6; Q8NBL4; Q9NTJ2; Q9P056;
DT   21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   28-JUN-2011, entry version 78.
DE   RecName: Full=Ubiquinone biosynthesis protein COQ9, mitochondrial;
DE   Flags: Precursor;
GN   Name=COQ9; Synonyms=C16orf49; ORFNames=HSPC326, PSEC0129;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Umbilical cord blood;
RX   MEDLINE=20499367; PubMed=11042152; DOI=10.1101/gr.140200;
RA   Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA   Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA   Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT   "Cloning and functional analysis of cDNAs with open reading frames for
RT   300 previously undefined genes expressed in CD34+ hematopoietic
RT   stem/progenitor cells.";
RL   Genome Res. 10:1546-1560(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Heart;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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 2).
RX   PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA   Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA   Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA   Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA   Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA   Isogai T.;
RT   "Signal sequence and keyword trap in silico for selection of full-
RT   length human cDNAs encoding secretion or membrane proteins from oligo-
RT   capped cDNA libraries.";
RL   DNA Res. 12:117-126(2005).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=99425270; PubMed=10493829; DOI=10.1006/geno.1999.5927;
RA   Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R.,
RA   Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L.,
RA   Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E.,
RA   Harris P.C., Venter J.C., Adams M.D.;
RT   "Genome duplications and other features in 12 Mb of DNA sequence from
RT   human chromosome 16p and 16q.";
RL   Genomics 60:295-308(1999).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   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=Lung, Skin, and Uterus;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-318 (ISOFORM 1).
RC   TISSUE=Testis;
RX   MEDLINE=21154917; PubMed=11230166; DOI=10.1101/gr.GR1547R;
RA   Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA   Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA   Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA   Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA   Wambutt R., Korn B., Klein M., Poustka A.;
RT   "Towards a catalog of human genes and proteins: sequencing and
RT   analysis of 500 novel complete protein coding human cDNAs.";
RL   Genome Res. 11:422-435(2001).
RN   [8]
RP   INVOLVEMENT IN COQ10D.
RX   PubMed=19375058; DOI=10.1016/j.ajhg.2009.03.018;
RA   Duncan A.J., Bitner-Glindzicz M., Meunier B., Costello H.,
RA   Hargreaves I.P., Lopez L.C., Hirano M., Quinzii C.M., Sadowski M.I.,
RA   Hardy J., Singleton A., Clayton P.T., Rahman S.;
RT   "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset
RT   primary coenzyme Q10 deficiency: a potentially treatable form of
RT   mitochondrial disease.";
RL   Am. J. Hum. Genet. 84:558-566(2009).
RN   [9]
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.,
RA   Buerckstuemmer T., 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 biosynthesis of coenzyme Q (By
CC       similarity).
CC   -!- PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion (By similarity).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O75208-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O75208-2; Sequence=VSP_017683, VSP_017684;
CC         Note=No experimental confirmation available;
CC   -!- DISEASE: Defects in COQ9 are a cause of coenzyme Q10 deficiency
CC       (COQ10D) [MIM:607426]. Coenzyme Q10 deficiency is an autosomal
CC       recessive disorder with variable manifestations. It can be
CC       associated with three main clinical phenotypes: a predominantly
CC       myopathic form with central nervous system involvement, an
CC       infantile encephalomyopathy with renal dysfunction and an ataxic
CC       form with cerebellar atrophy.
CC   -!- SIMILARITY: Belongs to the COQ9 family.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141;
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DR   EMBL; AF161444; AAF29004.1; ALT_FRAME; mRNA.
DR   EMBL; AK075438; BAC11621.1; -; mRNA.
DR   EMBL; AK290627; BAF83316.1; -; mRNA.
DR   EMBL; AC004382; AAC24313.1; -; Genomic_DNA.
DR   EMBL; CH471092; EAW82928.1; -; Genomic_DNA.
DR   EMBL; BC001478; AAH01478.2; -; mRNA.
DR   EMBL; BC054340; AAH54340.2; -; mRNA.
DR   EMBL; BC064946; AAH64946.1; -; mRNA.
DR   EMBL; AL136884; CAB66818.2; -; mRNA.
DR   IPI; IPI00385901; -.
DR   IPI; IPI00470631; -.
DR   PIR; T46490; T46490.
DR   RefSeq; NP_064708.1; NM_020312.3.
DR   UniGene; Hs.513632; -.
DR   ProteinModelPortal; O75208; -.
DR   IntAct; O75208; 2.
DR   MINT; MINT-1419260; -.
DR   STRING; O75208; -.
DR   PhosphoSite; O75208; -.
DR   PRIDE; O75208; -.
DR   Ensembl; ENST00000262507; ENSP00000262507; ENSG00000088682.
DR   GeneID; 57017; -.
DR   KEGG; hsa:57017; -.
DR   UCSC; uc002elp.1; human.
DR   UCSC; uc002elq.1; human.
DR   CTD; 57017; -.
DR   GeneCards; GC16P043348; -.
DR   H-InvDB; HIX0013073; -.
DR   HGNC; HGNC:25302; COQ9.
DR   MIM; 607426; phenotype.
DR   MIM; 612837; gene.
DR   neXtProt; NX_O75208; -.
DR   Orphanet; 35656; Coenzyme Q 10 deficiency.
DR   PharmGKB; PA142672085; -.
DR   eggNOG; prNOG14385; -.
DR   GeneTree; ENSGT00390000009328; -.
DR   HOGENOM; HBG750909; -.
DR   HOVERGEN; HBG079760; -.
DR   InParanoid; O75208; -.
DR   OMA; WYTRRAM; -.
DR   OrthoDB; EOG40P47B; -.
DR   PhylomeDB; O75208; -.
DR   NextBio; 62762; -.
DR   ArrayExpress; O75208; -.
DR   Bgee; O75208; -.
DR   CleanEx; HS_COQ9; -.
DR   Genevestigator; O75208; -.
DR   GermOnline; ENSG00000088682; Homo sapiens.
DR   GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR   GO; GO:0006744; P:ubiquinone biosynthetic process; IEA:UniProtKB-KW.
DR   InterPro; IPR013718; COQ9.
DR   InterPro; IPR012762; Ubiq_biosynth_COQ9.
DR   Pfam; PF08511; COQ9; 1.
DR   TIGRFAMs; TIGR02396; Diverge_rpsU; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Mitochondrion;
KW   Phosphoprotein; Transit peptide; Ubiquinone biosynthesis.
FT   TRANSIT       1     44       Mitochondrion (Potential).
FT   CHAIN        45    318       Ubiquinone biosynthesis protein COQ9,
FT                                mitochondrial.
FT                                /FTId=PRO_0000228637.
FT   MOD_RES      82     82       Phosphotyrosine (By similarity).
FT   VAR_SEQ     127    135       SLGLSSAAA -> VCIGEGGAT (in isoform 2).
FT                                /FTId=VSP_017683.
FT   VAR_SEQ     136    318       Missing (in isoform 2).
FT                                /FTId=VSP_017684.
SQ   SEQUENCE   318 AA;  35509 MW;  F648B4B409E749DA CRC64;
     MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ KQQPPNSFSQ
     QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ HRILTAALEF VPAHGWTAEA
     IAEGAQSLGL SSAAASMFGK DGSELILHFV TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ
     FLRDAVETRL RMLIPYIEHW PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW
     YTRRAMLAAI YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG
     LMGAAVTLKN LTGLNQRR
//