Q99807 (COQ7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ubiquinone biosynthesis protein COQ7 homolog

Alternative name(s):
Coenzyme Q biosynthesis protein 7 homolog
Timing protein clk-1 homolog

Gene names

Name:

COQ7

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	217 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.
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.

Ontologies

Keywords
Biological process	Ubiquinone biosynthesis
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transit peptide
Ligand	Iron Metal-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	age-dependent response to oxidative stress Inferred from electronic annotation. Source: Compara cellular response to oxidative stress Inferred from electronic annotation. Source: Compara determination of adult lifespan Inferred from electronic annotation. Source: Compara in utero embryonic development Inferred from electronic annotation. Source: Compara mitochondrial ATP synthesis coupled electron transport Inferred from electronic annotation. Source: Compara mitochondrion morphogenesis Inferred from electronic annotation. Source: Compara neural tube formation Inferred from electronic annotation. Source: Compara neurogenesis Inferred from electronic annotation. Source: Compara ubiquinone biosynthetic process Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay. Source: LIFEdb
Molecular_function	oxidoreductase activity Inferred from electronic annotation. Source: InterPro transition metal ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 36	36	Mitochondrion Potential
	Chain	37 – 217	181	Ubiquinone biosynthesis protein COQ7 homolog		PRO_0000079251
Regions
	Repeat	48 – 129	82	1
	Repeat	130 – 217	88	2
	Region	48 – 217	170	2 X approximate tandem repeats
	Compositional bias	4 – 9	6	Poly-Ala
Sites
	Metal binding	60	1	Iron 1 By similarity
	Metal binding	90	1	Iron 1 By similarity
	Metal binding	90	1	Iron 2 By similarity
	Metal binding	93	1	Iron 1 By similarity
	Metal binding	142	1	Iron 2 By similarity
	Metal binding	178	1	Iron 1 By similarity
	Metal binding	178	1	Iron 2 By similarity
	Metal binding	181	1	Iron 2 By similarity
Natural variations
	Alternative sequence	1 – 38	38	Missing in isoform 2.		VSP_039068
	Natural variant	103	1	T → M. Ref.1 Ref.2 Ref.3 Ref.7 Ref.8 Corresponds to variant rs11074359 [ dbSNP | Ensembl ].		VAR_055148
Experimental info
	Sequence conflict	45	1	S → N in AAC69451. Ref.7
	Sequence conflict	69	1	G → W in CAB66582. Ref.2
	Sequence conflict	72	1	A → R in AAC69451. Ref.7
	Sequence conflict	172	1	K → R in AAC69451. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 3. Checksum: 37BEC3CEA621B77B	FASTA	217	24,277
	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
	Isoform 2 [UniParc]. Checksum: 9F9453EA670261DA	FASTA	179	20,158
	10 20 30 40 50 60 MTLDNISRAA VDRIIRVDHA GEYGANRIYA GQMAVLGRTS VGPVIQKMWD QEKDHLKKFN 70 80 90 100 110 120 ELMVTFRVRP TVLMPLWNVL GFALGAGTAL LGKEGAMACT VAVEESIAHH YNNQIRTLME 130 140 150 160 170 EDPEKYEELL QLIKKFRDEE LEHHDIGLDH DAELAPAYAV LKSIIQAGCR VAIYLSERL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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].
+	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.
IPI	IPI00294073. IPI00645720.
RefSeq	NP_001177912.1. NM_001190983.1. NP_057222.2. NM_016138.4.
UniGene	Hs.157113.
3D structure databases
ProteinModelPortal	Q99807.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000322316.
PTM databases
PhosphoSite	Q99807.
Polymorphism databases
DMDM	311033465.
Proteomic databases
PaxDb	Q99807.
PRIDE	Q99807.
Protocols and materials databases
DNASU	10229.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321998; ENSP00000322316; ENSG00000167186. ENST00000544894; ENSP00000442923; ENSG00000167186. ENST00000568985; ENSP00000456734; ENSG00000167186.
GeneID	10229.
KEGG	hsa:10229.
UCSC	uc002dfr.3. human.
Organism-specific databases
CTD	10229.
GeneCards	GC16P019078.
H-InvDB	HIX0202253.
HGNC	HGNC:2244. COQ7.
MIM	601683. gene.
neXtProt	NX_Q99807.
PharmGKB	PA26761.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2941.
HOGENOM	HOG000184972.
HOVERGEN	HBG002214.
InParanoid	Q99807.
KO	K06134.
OMA	KAAHACT.
OrthoDB	EOG42V8H8.
PhylomeDB	Q99807.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000167186-MONOMER.
UniPathway	UPA00232.
Gene expression databases
ArrayExpress	Q99807.
Bgee	Q99807.
CleanEx	HS_COQ7.
Genevestigator	Q99807.
GermOnline	ENSG00000167186. Homo sapiens.
Family and domain databases
Gene3D	1.20.1260.10. 1 hit.
InterPro	IPR009078. Ferritin-like_SF. IPR012347. Ferritin-rel. IPR011566. Ubq_synth_Coq7. [Graphical view]
PANTHER	PTHR11237. PTHR11237. 1 hit.
Pfam	PF03232. COQ7. 1 hit. [Graphical view]
SUPFAM	SSF47240. Ferritin/RR_like. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	10229.
NextBio	38733.
SOURCE	Search...

Entry information

Entry name

COQ7_HUMAN

Accession

Primary (citable) accession number: Q99807
Secondary accession number(s): B2RDA9 , Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 120 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.