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O75208 (COQ9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ubiquinone biosynthesis protein COQ9, mitochondrial
Gene names
Name:COQ9
Synonyms:C16orf49
ORF Names:HSPC326, PSEC0129
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length318 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in the biosynthesis of coenzyme Q By similarity.

Pathway

Cofactor biosynthesis; ubiquinone biosynthesis.

Subcellular location

Mitochondrion By similarity.

Involvement in disease

Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the COQ9 family.

Sequence caution

The sequence AAF29004.1 differs from that shown. Reason: Frameshift at positions 26, 133, 138 and 141.

Ontologies

Keywords
   Biological processUbiquinone biosynthesis
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
   DomainTransit peptide
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmitochondrial electron transport, NADH to ubiquinone

Inferred from electronic annotation. Source: Ensembl

ubiquinone biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-UniPathway

   Cellular_componentmitochondrion

Inferred from direct assay PubMed 20833797. Source: UniProt

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75208-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O75208-2)

The sequence of this isoform differs from the canonical sequence as follows:
     127-135: SLGLSSAAA → VCIGEGGAT
     136-318: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4444Mitochondrion Potential
Chain45 – 318274Ubiquinone biosynthesis protein COQ9, mitochondrial
PRO_0000228637

Amino acid modifications

Modified residue1751N6-acetyllysine By similarity

Natural variations

Alternative sequence127 – 1359SLGLSSAAA → VCIGEGGAT in isoform 2.
VSP_017683
Alternative sequence136 – 318183Missing in isoform 2.
VSP_017684

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: F648B4B409E749DA

FASTA31835,509
        10         20         30         40         50         60 
MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ KQQPPNSFSQ 

        70         80         90        100        110        120 
QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ HRILTAALEF VPAHGWTAEA 

       130        140        150        160        170        180 
IAEGAQSLGL SSAAASMFGK DGSELILHFV TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ 

       190        200        210        220        230        240 
FLRDAVETRL RMLIPYIEHW PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW 

       250        260        270        280        290        300 
YTRRAMLAAI YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG 

       310 
LMGAAVTLKN LTGLNQRR 

« Hide

Isoform 2 [UniParc].

Checksum: 9C945AE4C90B6CC1
Show »

FASTA13514,505

References

« Hide 'large scale' references
[1]"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. expand/collapse author list , Gu J., Chen S.-J., Chen Z.
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Umbilical cord blood.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Heart.
[3]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q."
Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D.
Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung, Skin and Uterus.
[7]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-318 (ISOFORM 1).
Tissue: Testis.
[8]"A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease."
Duncan A.J., Bitner-Glindzicz M., Meunier B., Costello H., Hargreaves I.P., Lopez L.C., Hirano M., Quinzii C.M., Sadowski M.I., Hardy J., Singleton A., Clayton P.T., Rahman S.
Am. J. Hum. Genet. 84:558-566(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN COQ10D5.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF161444 mRNA. Translation: AAF29004.1. Frameshift.
AK075438 mRNA. Translation: BAC11621.1.
AK290627 mRNA. Translation: BAF83316.1.
AC004382 Genomic DNA. Translation: AAC24313.1.
CH471092 Genomic DNA. Translation: EAW82928.1.
BC001478 mRNA. Translation: AAH01478.2.
BC054340 mRNA. Translation: AAH54340.2.
BC064946 mRNA. Translation: AAH64946.1.
AL136884 mRNA. Translation: CAB66818.2.
PIRT46490.
RefSeqNP_064708.1. NM_020312.3.
UniGeneHs.513632.

3D structure databases

ProteinModelPortalO75208.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActO75208. 2 interactions.
MINTMINT-1419260.
STRING9606.ENSP00000262507.

PTM databases

PhosphoSiteO75208.

Proteomic databases

PaxDbO75208.
PRIDEO75208.

Protocols and materials databases

DNASU57017.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262507; ENSP00000262507; ENSG00000088682. [O75208-1]
GeneID57017.
KEGGhsa:57017.
UCSCuc002elp.2. human. [O75208-2]
uc002elq.3. human. [O75208-1]

Organism-specific databases

CTD57017.
GeneCardsGC16P057481.
HGNCHGNC:25302. COQ9.
HPAHPA040918.
MIM612837. gene.
614654. phenotype.
neXtProtNX_O75208.
Orphanet319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
PharmGKBPA142672085.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5590.
HOVERGENHBG079760.
InParanoidO75208.
OMATGEAVVQ.
OrthoDBEOG75B85W.
PhylomeDBO75208.
TreeFamTF324653.

Enzyme and pathway databases

UniPathwayUPA00232.

Gene expression databases

ArrayExpressO75208.
BgeeO75208.
CleanExHS_COQ9.
GenevestigatorO75208.

Family and domain databases

InterProIPR013718. COQ9.
IPR012762. Ubiq_biosynth_COQ9.
[Graphical view]
PfamPF08511. COQ9. 1 hit.
[Graphical view]
TIGRFAMsTIGR02396. diverge_rpsU. 1 hit.
ProtoNetSearch...

Other

ChiTaRSCOQ9. human.
GeneWikiCOQ9.
GenomeRNAi57017.
NextBio62762.
PROO75208.
SOURCESearch...

Entry information

Entry nameCOQ9_HUMAN
AccessionPrimary (citable) accession number: O75208
Secondary accession number(s): A8K3L2 expand/collapse secondary AC list , Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: November 1, 1998
Last modified: April 16, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM