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Q9Y3A0 (COQ4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. 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 COQ4 homolog, mitochondrial
Alternative name(s):
Coenzyme Q biosynthesis protein 4 homolog
Gene names
Name:COQ4
ORF Names:CGI-92
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length265 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides. Ref.1

Pathway

Cofactor biosynthesis; ubiquinone biosynthesis. HAMAP-Rule MF_03111

Subunit structure

Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 By similarity.

Subcellular location

Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side Ref.1.

Tissue specificity

Expressed ubiquitously, but at high levels in liver, lung and pancreas. Ref.1

Sequence similarities

Belongs to the COQ4 family.

Ontologies

Keywords
   Biological processUbiquinone biosynthesis
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransit peptide
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processubiquinone biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-UniPathway

   Cellular_componentmitochondrial inner membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from direct assay. Source: LIFEdb

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y3A0-1)

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: Q9Y3A0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3030Mitochondrion Potential
Chain31 – 265235Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial HAMAP-Rule MF_03111
PRO_0000115240

Natural variations

Alternative sequence1 – 2424Missing in isoform 2.
VSP_036866
Natural variant201R → Q.
Corresponds to variant rs9697215 [ dbSNP | Ensembl ].
VAR_048829
Natural variant501G → A. Ref.2 Ref.4 Ref.5 Ref.6
Corresponds to variant rs3003601 [ dbSNP | Ensembl ].
VAR_054861

Experimental info

Sequence conflict2301P → H in AAD34087. Ref.2

Sequences

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

Last modified April 14, 2009. Version 3.
Checksum: BFD161918B2924E2

FASTA26529,657
        10         20         30         40         50         60 
MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG LLAAGSAAMA 

        70         80         90        100        110        120 
LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ ERPRISTSTL DLGKLQSLPE 

       130        140        150        160        170        180 
GSLGREYLRF LDVNRVSPDT RAPTRFVDDE ELAYVIQRYR EVHDMLHTLL GMPTNILGEI 

       190        200        210        220        230        240 
VVKWFEAVQT GLPMCILGAF FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR 

       250        260 
WEQSLRALRE ELGITAPPMH VQGLA 

« Hide

Isoform 2 [UniParc].

Checksum: 43BFF1418627F86A
Show »

FASTA24127,043

References

« Hide 'large scale' references
[1]"Functional characterization of human COQ4, a gene required for coenzyme Q10 biosynthesis."
Casarin A., Jimenez-Ortega J.C., Trevisson E., Pertegato V., Doimo M., Ferrero-Gomez M.L., Abbadi S., Artuch R., Quinzii C., Hirano M., Basso G., Ocana C.S., Navas P., Salviati L.
Biochem. Biophys. Res. Commun. 372:35-39(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
[2]"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), VARIANT ALA-50.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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 ALA-50.
[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], VARIANT ALA-50.
[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), VARIANT ALA-50.
Tissue: Lung.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EU216419 mRNA. Translation: ABW91141.1.
EU216420 mRNA. Translation: ABW91142.1.
EU216421 mRNA. Translation: ABW91143.1.
EU216422 mRNA. Translation: ABW91144.1.
EU216423 mRNA. Translation: ABW91145.1.
AF151850 mRNA. Translation: AAD34087.1.
AK313650 mRNA. Translation: BAG36405.1.
AL359091 Genomic DNA. Translation: CAI13487.1.
CH471090 Genomic DNA. Translation: EAW87776.1.
BC011895 mRNA. Translation: AAH11895.1.
CCDSCCDS6898.1. [Q9Y3A0-1]
RefSeqNP_057119.2. NM_016035.3.
UniGeneHs.98541.

3D structure databases

ProteinModelPortalQ9Y3A0.
SMRQ9Y3A0. Positions 87-256.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119305. 1 interaction.
STRING9606.ENSP00000300452.

PTM databases

PhosphoSiteQ9Y3A0.

Polymorphism databases

DMDM226694194.

Proteomic databases

MaxQBQ9Y3A0.
PaxDbQ9Y3A0.
PRIDEQ9Y3A0.

Protocols and materials databases

DNASU51117.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300452; ENSP00000300452; ENSG00000167113. [Q9Y3A0-1]
GeneID51117.
KEGGhsa:51117.
UCSCuc004bur.4. human. [Q9Y3A0-1]

Organism-specific databases

CTD51117.
GeneCardsGC09P131084.
HGNCHGNC:19693. COQ4.
HPAHPA042945.
MIM612898. gene.
neXtProtNX_Q9Y3A0.
PharmGKBPA134957951.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5031.
HOGENOMHOG000194110.
HOVERGENHBG027006.
InParanoidQ9Y3A0.
OMAYEQRWEQ.
OrthoDBEOG7S7SGB.
PhylomeDBQ9Y3A0.
TreeFamTF314625.

Enzyme and pathway databases

UniPathwayUPA00232.

Gene expression databases

ArrayExpressQ9Y3A0.
BgeeQ9Y3A0.
CleanExHS_COQ4.
GenevestigatorQ9Y3A0.

Family and domain databases

HAMAPMF_03111. Coq4.
InterProIPR007715. Coq4.
IPR027540. Coq4_euk.
[Graphical view]
PfamPF05019. Coq4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCOQ4.
GenomeRNAi51117.
NextBio53889.
PROQ9Y3A0.
SOURCESearch...

Entry information

Entry nameCOQ4_HUMAN
AccessionPrimary (citable) accession number: Q9Y3A0
Secondary accession number(s): A8WBK8 expand/collapse secondary AC list , B2R958, Q5T4B8, Q96EW4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: April 14, 2009
Last modified: July 9, 2014
This is version 98 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 9

Human chromosome 9: entries, gene names and cross-references to MIM