ID   COQ4_HUMAN              Reviewed;         265 AA.
AC   Q9Y3A0; A8WBK8; B2R958; Q5T4B8; Q96EW4;
DT   19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT   14-APR-2009, sequence version 3.
DT   06-MAR-2013, entry version 84.
DE   RecName: Full=Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial;
DE   AltName: Full=Coenzyme Q biosynthesis protein 4 homolog;
DE   Flags: Precursor;
GN   Name=COQ4; ORFNames=CGI-92;
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 [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION,
RP   TISSUE SPECIFICITY, AND FUNCTION.
RX   PubMed=18474229; DOI=10.1016/j.bbrc.2008.04.172;
RA   Casarin A., Jimenez-Ortega J.C., Trevisson E., Pertegato V., Doimo M.,
RA   Ferrero-Gomez M.L., Abbadi S., Artuch R., Quinzii C., Hirano M.,
RA   Basso G., Ocana C.S., Navas P., Salviati L.;
RT   "Functional characterization of human COQ4, a gene required for
RT   coenzyme Q10 biosynthesis.";
RL   Biochem. Biophys. Res. Commun. 372:35-39(2008).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP   ALA-50.
RX   MEDLINE=20272150; PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA   Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT   "Identification of novel human genes evolutionarily conserved in
RT   Caenorhabditis elegans by comparative proteomics.";
RL   Genome Res. 10:703-713(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA   Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA   Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA   Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA   Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA   Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA   Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA   Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA   Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA   Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA   Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA   McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA   Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA   Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA   Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA   Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA   Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA   Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA   Rogers J., Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP   ALA-50.
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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ALA-50.
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), AND VARIANT
RP   ALA-50.
RC   TISSUE=Lung;
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).
CC   -!- FUNCTION: Component of the coenzyme Q biosynthetic pathway. May
CC       play a role in organizing a multi-subunit COQ enzyme complex
CC       required for coenzyme Q biosynthesis. Required for steady-state
CC       levels of other COQ polypeptides.
CC   -!- PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
CC   -!- SUBUNIT: Component of a multi-subunit COQ enzyme complex, composed
CC       of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity).
CC   -!- SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane;
CC       Peripheral membrane protein; Matrix side.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9Y3A0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9Y3A0-2; Sequence=VSP_036866;
CC   -!- TISSUE SPECIFICITY: Expressed ubiquitously, but at high levels in
CC       liver, lung and pancreas.
CC   -!- SIMILARITY: Belongs to the COQ4 family.
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DR   EMBL; EU216419; ABW91141.1; -; mRNA.
DR   EMBL; EU216420; ABW91142.1; -; mRNA.
DR   EMBL; EU216421; ABW91143.1; -; mRNA.
DR   EMBL; EU216422; ABW91144.1; -; mRNA.
DR   EMBL; EU216423; ABW91145.1; -; mRNA.
DR   EMBL; AF151850; AAD34087.1; -; mRNA.
DR   EMBL; AK313650; BAG36405.1; -; mRNA.
DR   EMBL; AL359091; CAI13487.1; -; Genomic_DNA.
DR   EMBL; CH471090; EAW87776.1; -; Genomic_DNA.
DR   EMBL; BC011895; AAH11895.1; -; mRNA.
DR   IPI; IPI00294469; -.
DR   IPI; IPI00926812; -.
DR   RefSeq; NP_057119.2; NM_016035.3.
DR   UniGene; Hs.98541; -.
DR   ProteinModelPortal; Q9Y3A0; -.
DR   SMR; Q9Y3A0; 46-255.
DR   STRING; Q9Y3A0; -.
DR   PhosphoSite; Q9Y3A0; -.
DR   DMDM; 226694194; -.
DR   PRIDE; Q9Y3A0; -.
DR   DNASU; 51117; -.
DR   Ensembl; ENST00000300452; ENSP00000300452; ENSG00000167113.
DR   GeneID; 51117; -.
DR   KEGG; hsa:51117; -.
DR   UCSC; uc004bur.4; human.
DR   CTD; 51117; -.
DR   GeneCards; GC09P131084; -.
DR   HGNC; HGNC:19693; COQ4.
DR   HPA; HPA042945; -.
DR   MIM; 612898; gene.
DR   neXtProt; NX_Q9Y3A0; -.
DR   PharmGKB; PA134957951; -.
DR   eggNOG; COG5031; -.
DR   HOGENOM; HOG000194110; -.
DR   HOVERGEN; HBG027006; -.
DR   InParanoid; Q9Y3A0; -.
DR   OMA; LGETTGC; -.
DR   OrthoDB; EOG4SN1PR; -.
DR   PhylomeDB; Q9Y3A0; -.
DR   UniPathway; UPA00232; -.
DR   GenomeRNAi; 51117; -.
DR   NextBio; 53889; -.
DR   ArrayExpress; Q9Y3A0; -.
DR   Bgee; Q9Y3A0; -.
DR   CleanEx; HS_COQ4; -.
DR   Genevestigator; Q9Y3A0; -.
DR   GermOnline; ENSG00000167113; Homo sapiens.
DR   GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005739; C:mitochondrion; IDA:LIFEdb.
DR   GO; GO:0006744; P:ubiquinone biosynthetic process; IEA:UniProtKB-UniPathway.
DR   HAMAP; MF_03111; Coq4; 1; -.
DR   InterPro; IPR007715; CoenzQ_biosynthesis_Coq4.
DR   Pfam; PF05019; Coq4; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Complete proteome; Membrane; Mitochondrion;
KW   Mitochondrion inner membrane; Polymorphism; Reference proteome;
KW   Transit peptide; Ubiquinone biosynthesis.
FT   TRANSIT       1     30       Mitochondrion (Potential).
FT   CHAIN        31    265       Ubiquinone biosynthesis protein COQ4
FT                                homolog, mitochondrial.
FT                                /FTId=PRO_0000115240.
FT   VAR_SEQ       1     24       Missing (in isoform 2).
FT                                /FTId=VSP_036866.
FT   VARIANT      20     20       R -> Q (in dbSNP:rs9697215).
FT                                /FTId=VAR_048829.
FT   VARIANT      50     50       G -> A (in dbSNP:rs3003601).
FT                                /FTId=VAR_054861.
FT   CONFLICT    230    230       P -> H (in Ref. 2; AAD34087).
SQ   SEQUENCE   265 AA;  29657 MW;  BFD161918B2924E2 CRC64;
     MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG LLAAGSAAMA
     LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ ERPRISTSTL DLGKLQSLPE
     GSLGREYLRF LDVNRVSPDT RAPTRFVDDE ELAYVIQRYR EVHDMLHTLL GMPTNILGEI
     VVKWFEAVQT GLPMCILGAF FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR
     WEQSLRALRE ELGITAPPMH VQGLA
//