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Q9Y2Z9 (COQ6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. 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 monooxygenase COQ6

EC=1.14.13.-
Alternative name(s):
Coenzyme Q10 monooxygenase 6
Gene names
Name:COQ6
ORF Names:CGI-10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length468 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Cofactor

FAD Potential.

Pathway

Cofactor biosynthesis; ubiquinone biosynthesis.

Subunit structure

Interacts with ADCK4 and COQ7. Ref.9

Subcellular location

Golgi apparatus. Cell projection By similarity. Note: Localizes to podocyte cell processes By similarity.

Tissue specificity

Widely epressed. Ref.10

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.10

Sequence similarities

Belongs to the UbiH/COQ6 family.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 468468Ubiquinone biosynthesis monooxygenase COQ6
PRO_0000207583

Natural variations

Alternative sequence2 – 119118AARLV…FRRMQ → IFTFMTRKSCCSKQVQRKYW RNCQKLTATGSAPFPLALQR FSV in isoform 2.
VSP_044060
Alternative sequence2 – 5453AARLV…MACAL → RGQGPPLSSFGVWLASRAAS DPSRPRRQ in isoform 3.
VSP_044061
Alternative sequence460 – 4612Missing in isoform 2.
VSP_044062
Natural variant2551G → R in COQ10D6. Ref.10
VAR_068216
Natural variant2871E → K. Ref.7
Corresponds to variant rs17851169 [ dbSNP | Ensembl ].
VAR_068217
Natural variant3001D → Y.
Corresponds to variant rs1044640 [ dbSNP | Ensembl ].
VAR_052691
Natural variant3391D → V.
Corresponds to variant rs2074930 [ dbSNP | Ensembl ].
VAR_033813
Natural variant3531A → D in COQ10D6. Ref.10
VAR_068218
Natural variant3951T → M.
Corresponds to variant rs34746680 [ dbSNP | Ensembl ].
VAR_033814
Natural variant4061V → M. Ref.4
Corresponds to variant rs8500 [ dbSNP | Ensembl ].
VAR_014953

Experimental info

Sequence conflict22 – 309VSWRRWSGA → AVLAQVVRR in AAD27719. Ref.1
Sequence conflict3171A → P in AAD27719. Ref.1
Sequence conflict336 – 3372AR → PW in AAD27719. Ref.1

Sequences

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

Last modified November 28, 2002. Version 2.
Checksum: 9613629BA501B60B

FASTA46850,870
        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 

« Hide

Isoform 2 (b) [UniParc].

Checksum: AC06474D2687E80E
Show »

FASTA39142,874
Isoform 3 (c) [UniParc].

Checksum: 61F3E8B19575633D
Show »

FASTA44348,593

References

« Hide '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. 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 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. expand/collapse author list , 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. 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].
[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]"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 COQ7.
[10]"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. expand/collapse author list , 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.
RefSeqNP_872282.1. NM_182476.2.
NP_872286.2. NM_182480.2.
UniGeneHs.131555.

3D structure databases

ProteinModelPortalQ9Y2Z9.
SMRQ9Y2Z9. Positions 35-435.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119212. 6 interactions.
IntActQ9Y2Z9. 2 interactions.
MINTMINT-1391142.
STRING9606.ENSP00000333946.

PTM databases

PhosphoSiteQ9Y2Z9.

Polymorphism databases

DMDM26006952.

Proteomic databases

PaxDbQ9Y2Z9.
PRIDEQ9Y2Z9.

Protocols and materials databases

DNASU51004.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334571; ENSP00000333946; ENSG00000119723. [Q9Y2Z9-1]
ENST00000394026; ENSP00000377594; ENSG00000119723. [Q9Y2Z9-3]
GeneID51004.
KEGGhsa:51004.
UCSCuc001xpe.3. human. [Q9Y2Z9-2]
uc001xph.3. human. [Q9Y2Z9-1]
uc010tuk.2. human. [Q9Y2Z9-3]

Organism-specific databases

CTD51004.
GeneCardsGC14P074416.
HGNCHGNC:20233. COQ6.
HPAHPA051371.
MIM614647. gene.
614650. phenotype.
neXtProtNX_Q9Y2Z9.
Orphanet280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
PharmGKBPA134940980.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0654.
HOGENOMHOG000255772.
HOVERGENHBG029533.
InParanoidQ9Y2Z9.
KOK06126.
OMADMRLGLC.
OrthoDBEOG7H793X.
PhylomeDBQ9Y2Z9.
TreeFamTF105772.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00232.

Gene expression databases

ArrayExpressQ9Y2Z9.
BgeeQ9Y2Z9.
CleanExHS_COQ6.
GenevestigatorQ9Y2Z9.

Family and domain databases

InterProIPR002938. mOase_FAD-bd.
IPR003042. Rng_hydrolase-like.
IPR018168. Ubi_Hdrlase_CS.
IPR010971. Ubi_Hdrxlases.
IPR000689. UbQ_biosynth_mOase.
[Graphical view]
PfamPF01494. FAD_binding_3. 2 hits.
[Graphical view]
PRINTSPR00420. RNGMNOXGNASE.
TIGRFAMsTIGR01989. COQ6. 1 hit.
TIGR01988. Ubi-OHases. 1 hit.
PROSITEPS01304. UBIH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi51004.
NextBio53468.
PROQ9Y2Z9.
SOURCESearch...

Entry information

Entry nameCOQ6_HUMAN
AccessionPrimary (citable) accession number: Q9Y2Z9
Secondary accession number(s): B7Z3K8 expand/collapse secondary AC list , Q53GG6, Q86U30, Q96CA1, Q96CK2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 28, 2002
Last modified: April 16, 2014
This is version 126 of the entry and version 2 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 14

Human chromosome 14: entries, gene names and cross-references to MIM