Q9Y2Z9 (COQ6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ubiquinone biosynthesis monooxygenase COQ6
EC=1.14.13.-

Alternative name(s):
Coenzyme Q10 monooxygenase 6

Gene names

Name:	COQ6
ORF Names:	CGI-10

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	468 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Cofactor	FAD Potential.
Pathway	Cofactor biosynthesis; ubiquinone biosynthesis.
Subcellular location	Golgi apparatus. Cell projection By similarity. Note: Localizes to podocyte cell processes By similarity.
Tissue specificity	Widely epressed. Ref.9
Involvement in disease	Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the UbiH/COQ6 family.

Ontologies

Keywords
Biological process	Ubiquinone biosynthesis
Cellular component	Cell projection Golgi apparatus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation
Ligand	FAD Flavoprotein
Molecular function	Monooxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ubiquinone biosynthetic process Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell cell projection Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay. Source: LIFEdb
Molecular_function	flavin adenine dinucleotide binding Inferred from electronic annotation. Source: InterPro oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y2Z9-1)

Also known as: a;

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: Q9Y2Z9-2)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     2-119: AARLVSRCGA...MRYRAFRRMQ → IFTFMTRKSC...FPLALQRFSV
     460-461: Missing.

Isoform 3 (identifier: Q9Y2Z9-3)

Also known as: c;

The sequence of this isoform differs from the canonical sequence as follows:
     2-54: AARLVSRCGA...LVGAAMACAL → RGQGPPLSSFGVWLASRAASDPSRPRRQ

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 468	468	Ubiquinone biosynthesis monooxygenase COQ6		PRO_0000207583
Natural variations
	Alternative sequence	2 – 119	118	AARLV…FRRMQ → IFTFMTRKSCCSKQVQRKYW RNCQKLTATGSAPFPLALQR FSV in isoform 2.		VSP_044060
	Alternative sequence	2 – 54	53	AARLV…MACAL → RGQGPPLSSFGVWLASRAAS DPSRPRRQ in isoform 3.		VSP_044061
	Alternative sequence	460 – 461	2	Missing in isoform 2.		VSP_044062
	Natural variant	255	1	G → R in COQ10D6. Ref.9		VAR_068216
	Natural variant	287	1	E → K. Ref.7 Corresponds to variant rs17851169 [ dbSNP | Ensembl ].		VAR_068217
	Natural variant	300	1	D → Y. Corresponds to variant rs1044640 [ dbSNP | Ensembl ].		VAR_052691
	Natural variant	339	1	D → V. Corresponds to variant rs2074930 [ dbSNP | Ensembl ].		VAR_033813
	Natural variant	353	1	A → D in COQ10D6. Ref.9		VAR_068218
	Natural variant	395	1	T → M. Corresponds to variant rs34746680 [ dbSNP | Ensembl ].		VAR_033814
	Natural variant	406	1	V → M. Ref.4 Corresponds to variant rs8500 [ dbSNP | Ensembl ].		VAR_014953
Experimental info
	Sequence conflict	22 – 30	9	VSWRRWSGA → AVLAQVVRR in AAD27719. Ref.1
	Sequence conflict	317	1	A → P in AAD27719. Ref.1
	Sequence conflict	336 – 337	2	AR → PW in AAD27719. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (a) [UniParc]. Last modified November 28, 2002. Version 2. Checksum: 9613629BA501B60B	FASTA	468	50,870
	10 20 30 40 50 60 MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM ACALGYDIHF 70 80 90 100 110 120 HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS FGAWDHICNM RYRAFRRMQV 130 140 150 160 170 180 WDACSEALIM FDKDNLDDMG YIVENDVIMH ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF 190 200 210 220 230 240 PMADSSPWVH ITLGDGSTFQ TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE 250 260 270 280 290 300 ATENNVAWQR FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD 310 320 330 340 350 360 ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL GHAAEYVRPR 370 380 390 400 410 420 VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG KDLGSVSHLT GYETERQRHN 430 440 450 460 TALLAATDLL KRLYSTSASP LVLLRTWGLQ ATNAVSPLKE QIMAFASK
	Isoform 2 (b) [UniParc]. Checksum: AC06474D2687E80E	FASTA	391	42,874
	10 20 30 40 50 60 MIFTFMTRKS CCSKQVQRKY WRNCQKLTAT GSAPFPLALQ RFSVVWDACS EALIMFDKDN 70 80 90 100 110 120 LDDMGYIVEN DVIMHALTKQ LEAVSDRVTV LYRSKAIRYT WPCPFPMADS SPWVHITLGD 130 140 150 160 170 180 GSTFQTKLLI GADGHNSGVR QAVGIQNVSW NYDQSAVVAT LHLSEATENN VAWQRFLPSG 190 200 210 220 230 240 PIALLPLSDT LSSLVWSTSH EHAAELVSMD EEKFVDAVNS AFWSDADHTD FIDTAGAMLQ 250 260 270 280 290 300 YAVSLLKPTK VSARQLPPSV ARVDAKSRVL FPLGLGHAAE YVRPRVALIG DAAHRVHPLA 310 320 330 340 350 360 GQGVNMGFGD ISSLAHHLST AAFNGKDLGS VSHLTGYETE RQRHNTALLA ATDLLKRLYS 370 380 390 TSASPLVLLR TWGLQATNAV SPLKIMAFAS K
	Isoform 3 (c) [UniParc]. Checksum: 61F3E8B19575633D	FASTA	443	48,593
	10 20 30 40 50 60 MRGQGPPLSS FGVWLASRAA SDPSRPRRQG YDIHFHDKKI LLLEAGPKKV LEKLSETYSN 70 80 90 100 110 120 RVSSISPGSA TLLSSFGAWD HICNMRYRAF RRMQVWDACS EALIMFDKDN LDDMGYIVEN 130 140 150 160 170 180 DVIMHALTKQ LEAVSDRVTV LYRSKAIRYT WPCPFPMADS SPWVHITLGD GSTFQTKLLI 190 200 210 220 230 240 GADGHNSGVR QAVGIQNVSW NYDQSAVVAT LHLSEATENN VAWQRFLPSG PIALLPLSDT 250 260 270 280 290 300 LSSLVWSTSH EHAAELVSMD EEKFVDAVNS AFWSDADHTD FIDTAGAMLQ YAVSLLKPTK 310 320 330 340 350 360 VSARQLPPSV ARVDAKSRVL FPLGLGHAAE YVRPRVALIG DAAHRVHPLA GQGVNMGFGD 370 380 390 400 410 420 ISSLAHHLST AAFNGKDLGS VSHLTGYETE RQRHNTALLA ATDLLKRLYS TSASPLVLLR 430 440 TWGLQATNAV SPLKEQIMAF ASK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[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. , 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 3). Tissue: Subthalamic nucleus.
[3]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Fetal liver.
[4]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT MET-406. Tissue: Heart.
[5]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	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].
[7]	"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), VARIANT LYS-287. Tissue: Colon and Lung.
[8]	"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].
[9]	"COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness." Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V., Killen P.D., Raphael Y., Ashraf S., Ovunc B., Schoeb D.S., McLaughlin H.M., Airik R., Vlangos C.N. , Gbadegesin R., Hinkes B., Saisawat P., Trevisson E., Doimo M., Casarin A., Pertegato V., Giorgi G., Prokisch H., Rotig A., Nurnberg G., Becker C., Wang S., Ozaltin F., Topaloglu R., Bakkaloglu A., Bakkaloglu S.A., Muller D., Beissert A., Mir S., Berdeli A., Varpizen S., Zenker M., Matejas V., Santos-Ocana C., Navas P., Kusakabe T., Kispert A., Akman S., Soliman N.A., Krick S., Mundel P., Reiser J., Nurnberg P., Clarke C.F., Wiggins R.C., Faul C., Hildebrandt F. J. Clin. Invest. 121:2013-2024(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COQ10D6 ARG-255 AND ASP-353, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF132944 mRNA. Translation: AAD27719.1. AK296040 mRNA. Translation: BAH12244.1. BX248000 mRNA. Translation: CAD62332.1. AK222965 mRNA. Translation: BAD96685.1. AC005480 Genomic DNA. No translation available. CH471061 Genomic DNA. Translation: EAW81148.1. BC014181 mRNA. Translation: AAH14181.1. BC014483 mRNA. Translation: AAH14483.1.
IPI	IPI00032633.
RefSeq	NP_872282.1. NM_182476.2. NP_872286.2. NM_182480.2.
UniGene	Hs.131555.
3D structure databases
ProteinModelPortal	Q9Y2Z9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y2Z9. 2 interactions.
STRING	9606.ENSP00000333946.
PTM databases
PhosphoSite	Q9Y2Z9.
Polymorphism databases
DMDM	26006952.
Proteomic databases
PaxDb	Q9Y2Z9.
PRIDE	Q9Y2Z9.
Protocols and materials databases
DNASU	51004.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000334571; ENSP00000333946; ENSG00000119723. ENST00000394026; ENSP00000377594; ENSG00000119723.
GeneID	51004.
KEGG	hsa:51004.
UCSC	uc001xph.3. human.
Organism-specific databases
CTD	51004.
GeneCards	GC14P074416.
HGNC	HGNC:20233. COQ6.
HPA	HPA051371.
MIM	614647. gene. 614650. phenotype.
neXtProt	NX_Q9Y2Z9.
Orphanet	280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
PharmGKB	PA134940980.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0654.
HOGENOM	HOG000255772.
HOVERGEN	HBG029533.
InParanoid	Q9Y2Z9.
KO	K06126.
OMA	CRRWAGA.
OrthoDB	EOG47M1XV.
PhylomeDB	Q9Y2Z9.
Enzyme and pathway databases
UniPathway	UPA00232.
Gene expression databases
ArrayExpress	Q9Y2Z9.
Bgee	Q9Y2Z9.
CleanEx	HS_COQ6.
Genevestigator	Q9Y2Z9.
GermOnline	ENSG00000119723. Homo sapiens.
Family and domain databases
InterPro	IPR002938. mOase_FAD-bd. IPR003042. Rng_hydrolase-like. IPR018168. Ubi_Hdrlase_CS. IPR010971. Ubi_Hdrxlases. IPR000689. UbQ_biosynth_mOase. [Graphical view]
Pfam	PF01494. FAD_binding_3. 2 hits. [Graphical view]
PRINTS	PR00420. RNGMNOXGNASE.
TIGRFAMs	TIGR01989. COQ6. 1 hit. TIGR01988. Ubi-OHases. 1 hit.
PROSITE	PS01304. UBIH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51004.
NextBio	53468.
SOURCE	Search...

Entry information

Entry name

COQ6_HUMAN

Accession

Primary (citable) accession number: Q9Y2Z9
Secondary accession number(s): B7Z3K8 , Q53GG6, Q86U30, Q96CA1, Q96CK2

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 28, 2002
Last modified:	May 1, 2013
This is version 117 of the entry and version 2 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.