O75208 (COQ9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ubiquinone biosynthesis protein COQ9, mitochondrial

Gene names

Name:	COQ9
Synonyms:	C16orf49
ORF Names:	HSPC326, PSEC0129

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	318 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 the biosynthesis of coenzyme Q By similarity.
Pathway	Cofactor biosynthesis; ubiquinone biosynthesis.
Subcellular location	Mitochondrion By similarity.
Involvement in disease	Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Belongs to the COQ9 family.
Sequence caution	The sequence AAF29004.1 differs from that shown. Reason: Frameshift at positions 26, 133, 138 and 141.

Ontologies

Keywords
Biological process	Ubiquinone biosynthesis
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
Domain	Transit peptide
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ubiquinone biosynthetic process Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75208-1)

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: O75208-2)

The sequence of this isoform differs from the canonical sequence as follows:
     127-135: SLGLSSAAA → VCIGEGGAT
     136-318: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 44	44	Mitochondrion Potential
	Chain	45 – 318	274	Ubiquinone biosynthesis protein COQ9, mitochondrial		PRO_0000228637
Amino acid modifications
	Modified residue	82	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	127 – 135	9	SLGLSSAAA → VCIGEGGAT in isoform 2.		VSP_017683
	Alternative sequence	136 – 318	183	Missing in isoform 2.		VSP_017684

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: F648B4B409E749DA	FASTA	318	35,509
	10 20 30 40 50 60 MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ KQQPPNSFSQ 70 80 90 100 110 120 QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ HRILTAALEF VPAHGWTAEA 130 140 150 160 170 180 IAEGAQSLGL SSAAASMFGK DGSELILHFV TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ 190 200 210 220 230 240 FLRDAVETRL RMLIPYIEHW PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW 250 260 270 280 290 300 YTRRAMLAAI YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG 310 LMGAAVTLKN LTGLNQRR
	Isoform 2 [UniParc]. Checksum: 9C945AE4C90B6CC1	FASTA	135	14,505
	10 20 30 40 50 60 MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ KQQPPNSFSQ 70 80 90 100 110 120 QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ HRILTAALEF VPAHGWTAEA 130 IAEGAQVCIG EGGAT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Umbilical cord blood.
[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 1). Tissue: Heart.
[3]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]	"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [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: Lung, Skin and Uterus.
[7]	"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] OF 203-318 (ISOFORM 1). Tissue: Testis.
[8]	"A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease." Duncan A.J., Bitner-Glindzicz M., Meunier B., Costello H., Hargreaves I.P., Lopez L.C., Hirano M., Quinzii C.M., Sadowski M.I., Hardy J., Singleton A., Clayton P.T., Rahman S. Am. J. Hum. Genet. 84:558-566(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN COQ10D5.
[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	AF161444 mRNA. Translation: AAF29004.1. Frameshift. AK075438 mRNA. Translation: BAC11621.1. AK290627 mRNA. Translation: BAF83316.1. AC004382 Genomic DNA. Translation: AAC24313.1. CH471092 Genomic DNA. Translation: EAW82928.1. BC001478 mRNA. Translation: AAH01478.2. BC054340 mRNA. Translation: AAH54340.2. BC064946 mRNA. Translation: AAH64946.1. AL136884 mRNA. Translation: CAB66818.2.
IPI	IPI00385901. IPI00470631.
PIR	T46490.
RefSeq	NP_064708.1. NM_020312.3.
UniGene	Hs.513632.
3D structure databases
ProteinModelPortal	O75208.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75208. 2 interactions.
MINT	MINT-1419260.
STRING	9606.ENSP00000262507.
PTM databases
PhosphoSite	O75208.
Proteomic databases
PaxDb	O75208.
PRIDE	O75208.
Protocols and materials databases
DNASU	57017.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262507; ENSP00000262507; ENSG00000088682.
GeneID	57017.
KEGG	hsa:57017.
UCSC	uc002elp.2. human. uc002elq.3. human.
Organism-specific databases
CTD	57017.
GeneCards	GC16P057481.
HGNC	HGNC:25302. COQ9.
HPA	HPA040918.
MIM	612837. gene. 614654. phenotype.
neXtProt	NX_O75208.
Orphanet	139485. Autosomal recessive ataxia due to ubiquinone deficiency. 319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
PharmGKB	PA142672085.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5590.
HOVERGEN	HBG079760.
InParanoid	O75208.
OMA	TGEAVVQ.
OrthoDB	EOG40P47B.
Enzyme and pathway databases
UniPathway	UPA00232.
Gene expression databases
ArrayExpress	O75208.
Bgee	O75208.
CleanEx	HS_COQ9.
Genevestigator	O75208.
GermOnline	ENSG00000088682. Homo sapiens.
Family and domain databases
InterPro	IPR013718. COQ9. IPR012762. Ubiq_biosynth_COQ9. [Graphical view]
Pfam	PF08511. COQ9. 1 hit. [Graphical view]
TIGRFAMs	TIGR02396. diverge_rpsU. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	COQ9. human.
GenomeRNAi	57017.
NextBio	62762.
SOURCE	Search...

Entry information

Entry name

COQ9_HUMAN

Accession

Primary (citable) accession number: O75208
Secondary accession number(s): A8K3L2 , Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	November 1, 1998
Last modified:	May 29, 2013
This is version 95 of the entry and version 1 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.