Q9Y3A0 (COQ4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Alternative name(s):
Coenzyme Q biosynthesis protein 4 homolog

Gene names

Name:	COQ4
ORF Names:	CGI-92

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	265 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Ubiquinone biosynthesis
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ubiquinone biosynthetic process Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	mitochondrial 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 30	30	Mitochondrion Potential
	Chain	31 – 265	235	Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial HAMAP-Rule MF_03111		PRO_0000115240
Natural variations
	Alternative sequence	1 – 24	24	Missing in isoform 2.		VSP_036866
	Natural variant	20	1	R → Q. Corresponds to variant rs9697215 [ dbSNP | Ensembl ].		VAR_048829
	Natural variant	50	1	G → A. Ref.2 Ref.4 Ref.5 Ref.6 Corresponds to variant rs3003601 [ dbSNP | Ensembl ].		VAR_054861
Experimental info
	Sequence conflict	230	1	P → H in AAD34087. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 14, 2009. Version 3. Checksum: BFD161918B2924E2	FASTA	265	29,657
	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
	Isoform 2 [UniParc]. Checksum: 43BFF1418627F86A	FASTA	241	27,043
	10 20 30 40 50 60 MPLRARSDGA GPLYSHHLPT SPLQKGLLAA GSAAMALYNP YRHDMVAVLG ETTGHRTLKV 70 80 90 100 110 120 LRDQMRRDPE GAQILQERPR ISTSTLDLGK LQSLPEGSLG REYLRFLDVN RVSPDTRAPT 130 140 150 160 170 180 RFVDDEELAY VIQRYREVHD MLHTLLGMPT NILGEIVVKW FEAVQTGLPM CILGAFFGPI 190 200 210 220 230 240 RLGAQSLQVL VSELIPWAVQ NGRRAPCVLN LYYERRWEQS LRALREELGI TAPPMHVQGL A

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00294469. IPI00926812.
RefSeq	NP_057119.2. NM_016035.3.
UniGene	Hs.98541.
3D structure databases
ProteinModelPortal	Q9Y3A0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000300452.
PTM databases
PhosphoSite	Q9Y3A0.
Polymorphism databases
DMDM	226694194.
Proteomic databases
PaxDb	Q9Y3A0.
PRIDE	Q9Y3A0.
Protocols and materials databases
DNASU	51117.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000300452; ENSP00000300452; ENSG00000167113.
GeneID	51117.
KEGG	hsa:51117.
UCSC	uc004bur.4. human.
Organism-specific databases
CTD	51117.
GeneCards	GC09P131084.
HGNC	HGNC:19693. COQ4.
HPA	HPA042945.
MIM	612898. gene.
neXtProt	NX_Q9Y3A0.
PharmGKB	PA134957951.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5031.
HOGENOM	HOG000194110.
HOVERGEN	HBG027006.
InParanoid	Q9Y3A0.
OMA	LGETTGC.
OrthoDB	EOG4SN1PR.
PhylomeDB	Q9Y3A0.
Enzyme and pathway databases
UniPathway	UPA00232.
Gene expression databases
ArrayExpress	Q9Y3A0.
Bgee	Q9Y3A0.
CleanEx	HS_COQ4.
Genevestigator	Q9Y3A0.
GermOnline	ENSG00000167113. Homo sapiens.
Family and domain databases
HAMAP	MF_03111. Coq4.
InterPro	IPR007715. CoenzQ_biosynthesis_Coq4. [Graphical view]
Pfam	PF05019. Coq4. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51117.
NextBio	53889.
SOURCE	Search...

Entry information

Entry name

COQ4_HUMAN

Accession

Primary (citable) accession number: Q9Y3A0
Secondary accession number(s): A8WBK8 , B2R958, Q5T4B8, Q96EW4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	April 14, 2009
Last modified:	May 1, 2013
This is version 86 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.