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Q99807 (COQ7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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 COQ7 homolog
Alternative name(s):
Coenzyme Q biosynthesis protein 7 homolog
Timing protein clk-1 homolog
Gene names
Name:COQ7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length217 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 lifespan determination in ubiquinone-independent manner. Involved in ubiquinone biosynthesis. Potential central metabolic regulator By similarity.

Cofactor

Binds 2 iron ions per subunit By similarity.

Pathway

Cofactor biosynthesis; ubiquinone biosynthesis.

Subunit structure

Interacts with ADCK4 and COQ6. Ref.10

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Note: Synthesized as a preprotein that is imported into the mitochondrial matrix, where the sequence is cleaved off and the mature protein becomes loosely associated with the inner membrane By similarity.

Tissue specificity

Expressed dominantly in heart and skeletal muscle.

Sequence similarities

Belongs to the COQ7 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99807-1)

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: Q99807-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3636Mitochondrion Potential
Chain37 – 217181Ubiquinone biosynthesis protein COQ7 homolog
PRO_0000079251

Regions

Repeat48 – 129821
Repeat130 – 217882
Region48 – 2171702 X approximate tandem repeats
Compositional bias4 – 96Poly-Ala

Sites

Metal binding601Iron 1 By similarity
Metal binding901Iron 1 By similarity
Metal binding901Iron 2 By similarity
Metal binding931Iron 1 By similarity
Metal binding1421Iron 2 By similarity
Metal binding1781Iron 1 By similarity
Metal binding1781Iron 2 By similarity
Metal binding1811Iron 2 By similarity

Natural variations

Alternative sequence1 – 3838Missing in isoform 2.
VSP_039068
Natural variant1031T → M. Ref.1 Ref.2 Ref.3 Ref.7 Ref.8
Corresponds to variant rs11074359 [ dbSNP | Ensembl ].
VAR_055148

Experimental info

Sequence conflict451S → N in AAC69451. Ref.7
Sequence conflict691G → W in CAB66582. Ref.2
Sequence conflict721A → R in AAC69451. Ref.7
Sequence conflict1721K → R in AAC69451. Ref.7

Sequences

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

Last modified November 2, 2010. Version 3.
Checksum: 37BEC3CEA621B77B

FASTA21724,277
        10         20         30         40         50         60 
MSCAGAAAAP RLWRLRPGAR RSLSAYGRRT SVRFRSSGMT LDNISRAAVD RIIRVDHAGE 

        70         80         90        100        110        120 
YGANRIYAGQ MAVLGRTSVG PVIQKMWDQE KDHLKKFNEL MVTFRVRPTV LMPLWNVLGF 

       130        140        150        160        170        180 
ALGAGTALLG KEGAMACTVA VEESIAHHYN NQIRTLMEED PEKYEELLQL IKKFRDEELE 

       190        200        210 
HHDIGLDHDA ELAPAYAVLK SIIQAGCRVA IYLSERL 

« Hide

Isoform 2 [UniParc].

Checksum: 9F9453EA670261DA
Show »

FASTA17920,158

References

« Hide 'large scale' references
[1]"Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human."
Asaumi S., Kuroyanagi H., Seki N., Shirasawa T.
Genomics 58:293-301(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-103.
[2]"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] (ISOFORM 2), VARIANT MET-103.
Tissue: Brain.
[3]"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), VARIANT MET-103.
[4]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [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: Brain.
[7]"Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging."
Vajo Z., King L.M., Jonassen T., Wilkin D.J., Ho N., Munnich A., Clarke C.F., Francomano C.A.
Mamm. Genome 10:1000-1004(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-217 (ISOFORMS 1/2), VARIANT MET-103.
[8]"Structural and functional conservation of the Caenorhabditis elegans timing gene clk-1."
Ewbank J.J., Barnes T.M., Lakowski B., Lussier M., Bussey H., Hekimi S.
Science 275:980-983(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-130 (ISOFORMS 1/2), VARIANT MET-103.
Tissue: Placenta.
[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].
[10]"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."
Ashraf S., Gee H.Y., Woerner S., Xie L.X., Vega-Warner V., Lovric S., Fang H., Song X., Cattran D.C., Avila-Casado C., Paterson A.D., Nitschke P., Bole-Feysot C., Cochat P., Esteve-Rudd J., Haberberger B., Allen S.J., Zhou W. expand/collapse author list , Airik R., Otto E.A., Barua M., Al-Hamed M.H., Kari J.A., Evans J., Bierzynska A., Saleem M.A., Bockenhauer D., Kleta R., El Desoky S., Hacihamdioglu D.O., Gok F., Washburn J., Wiggins R.C., Choi M., Lifton R.P., Levy S., Han Z., Salviati L., Prokisch H., Williams D.S., Pollak M., Clarke C.F., Pei Y., Antignac C., Hildebrandt F.
J. Clin. Invest. 123:5179-5189(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ADCK4 AND COQ6.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF098948 mRNA. Translation: AAD43648.1.
AL136647 mRNA. Translation: CAB66582.1.
AK024291 mRNA. Translation: BAB14876.1.
AK315470 mRNA. Translation: BAG37856.1.
AC099518 Genomic DNA. No translation available.
CH471186 Genomic DNA. Translation: EAW50268.1.
BC003185 mRNA. Translation: AAH03185.1.
AF032900 mRNA. Translation: AAC69451.1.
U81276 mRNA. Translation: AAC51120.1.
RefSeqNP_001177912.1. NM_001190983.1.
NP_057222.2. NM_016138.4.
UniGeneHs.157113.

3D structure databases

ProteinModelPortalQ99807.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115523. 1 interaction.
STRING9606.ENSP00000322316.

PTM databases

PhosphoSiteQ99807.

Polymorphism databases

DMDM311033465.

Proteomic databases

PaxDbQ99807.
PRIDEQ99807.

Protocols and materials databases

DNASU10229.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321998; ENSP00000322316; ENSG00000167186. [Q99807-1]
ENST00000544894; ENSP00000442923; ENSG00000167186. [Q99807-2]
ENST00000568985; ENSP00000456734; ENSG00000167186. [Q99807-1]
GeneID10229.
KEGGhsa:10229.
UCSCuc002dfr.3. human. [Q99807-1]

Organism-specific databases

CTD10229.
GeneCardsGC16P019078.
H-InvDBHIX0202253.
HGNCHGNC:2244. COQ7.
MIM601683. gene.
neXtProtNX_Q99807.
PharmGKBPA26761.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2941.
HOGENOMHOG000184972.
HOVERGENHBG002214.
InParanoidQ99807.
KOK06134.
OMAHLDTMER.
OrthoDBEOG73BVF0.
PhylomeDBQ99807.
TreeFamTF314559.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000167186-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00232.

Gene expression databases

ArrayExpressQ99807.
BgeeQ99807.
CleanExHS_COQ7.
GenevestigatorQ99807.

Family and domain databases

Gene3D1.20.1260.10. 1 hit.
InterProIPR009078. Ferritin-like_SF.
IPR012347. Ferritin-rel.
IPR011566. Ubq_synth_Coq7.
[Graphical view]
PANTHERPTHR11237. PTHR11237. 1 hit.
PfamPF03232. COQ7. 1 hit.
[Graphical view]
SUPFAMSSF47240. SSF47240. 1 hit.
ProtoNetSearch...

Other

GeneWikiCOQ7.
GenomeRNAi10229.
NextBio38733.
PROQ99807.
SOURCESearch...

Entry information

Entry nameCOQ7_HUMAN
AccessionPrimary (citable) accession number: Q99807
Secondary accession number(s): B2RDA9 expand/collapse secondary AC list , Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 130 of the entry and version 3 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

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