Q96H96 (COQ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
4-hydroxybenzoate polyprenyltransferase, mitochondrial
EC=2.5.1.39

Alternative name(s):
COQ2 homolog
Short name=hCOQ2
Para-hydroxybenzoate--polyprenyltransferase
Short name=PHB:polyprenyltransferase

Gene names

Name:	COQ2
Synonyms:	CL640

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	371 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	Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB. Ref.1
Catalytic activity	A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate. Ref.1
Pathway	Cofactor biosynthesis; ubiquinone biosynthesis.
Subcellular location	Mitochondrion membrane; Multi-pass membrane protein Probable.
Tissue specificity	Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. Ref.1
Involvement in disease	Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]: 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.6 Ref.7
Sequence similarities	Belongs to the UbiA prenyltransferase family.
Sequence caution	The sequence AAC72955.1 differs from that shown. Reason: Frameshift at position 172. The sequence AAH20728.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAF18241.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Isoprene biosynthesis Ubiquinone biosynthesis
Cellular component	Membrane Mitochondrion
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Transit peptide Transmembrane Transmembrane helix
Molecular function	Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycerol metabolic process Inferred from genetic interaction Ref.1. Source: UniProtKB isoprenoid biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW ubiquinone biosynthetic process Inferred from direct assay Ref.1. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	4-hydroxybenzoate decaprenyltransferase activity Inferred from electronic annotation. Source: EC 4-hydroxybenzoate nonaprenyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q96H96-1)

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 3 (identifier: Q96H96-3)

The sequence of this isoform differs from the canonical sequence as follows:
     318-334: IYTLDIHRPEDCWNKFI → KWGLEILPRLV
     335-371: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 34	34	Mitochondrion Potential
	Chain	35 – 371	337	4-hydroxybenzoate polyprenyltransferase, mitochondrial		PRO_0000228623
Regions
	Transmembrane	84 – 104	21	Helical; Potential
	Transmembrane	109 – 129	21	Helical; Potential
	Transmembrane	149 – 169	21	Helical; Potential
	Transmembrane	173 – 193	21	Helical; Potential
	Transmembrane	204 – 224	21	Helical; Potential
	Transmembrane	232 – 252	21	Helical; Potential
	Transmembrane	278 – 298	21	Helical; Potential
	Transmembrane	301 – 321	21	Helical; Potential
	Transmembrane	333 – 353	21	Helical; Potential
Natural variations
	Alternative sequence	318 – 334	17	IYTLD…WNKFI → KWGLEILPRLV in isoform 3.		VSP_017677
	Alternative sequence	335 – 371	37	Missing in isoform 3.		VSP_017678
	Natural variant	96	1	S → N in COQ10D1. Ref.7		VAR_068161
	Natural variant	147	1	R → H in COQ10D1. Ref.7		VAR_068162
	Natural variant	178	1	N → S in COQ10D1. Ref.7		VAR_068163
	Natural variant	247	1	Y → C in COQ10D1. Ref.6 Ref.7		VAR_025701

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 92371F0DD373A732	FASTA	371	40,489
	10 20 30 40 50 60 MLGSRAAGFA RGLRALALAW LPGWRGRSFA LARAAGAPHG GDLQPPACPE PRGRQLSLSA 70 80 90 100 110 120 AAVVDSAPRP LQPYLRLMRL DKPIGTWLLY LPCTWSIGLA AEPGCFPDWY MLSLFGTGAI 130 140 150 160 170 180 LMRGAGCTIN DMWDQDYDKK VTRTANRPIA AGDISTFQSF VFLGGQLTLA LGVLLCLNYY 190 200 210 220 230 240 SIALGAGSLL LVITYPLMKR ISYWPQLALG LTFNWGALLG WSAIKGSCDP SVCLPLYFSG 250 260 270 280 290 300 VMWTLIYDTI YAHQDKRDDV LIGLKSTALR FGENTKPWLS GFSVAMLGAL SLVGVNSGQT 310 320 330 340 350 360 APYYAALGAV GAHLTHQIYT LDIHRPEDCW NKFISNRTLG LIVFLGIVLG NLWKEKKTDK 370 TKKGIENKIE N
	Isoform 3 [UniParc]. Checksum: 386A0430F0BC890B	FASTA	328	35,468
	10 20 30 40 50 60 MLGSRAAGFA RGLRALALAW LPGWRGRSFA LARAAGAPHG GDLQPPACPE PRGRQLSLSA 70 80 90 100 110 120 AAVVDSAPRP LQPYLRLMRL DKPIGTWLLY LPCTWSIGLA AEPGCFPDWY MLSLFGTGAI 130 140 150 160 170 180 LMRGAGCTIN DMWDQDYDKK VTRTANRPIA AGDISTFQSF VFLGGQLTLA LGVLLCLNYY 190 200 210 220 230 240 SIALGAGSLL LVITYPLMKR ISYWPQLALG LTFNWGALLG WSAIKGSCDP SVCLPLYFSG 250 260 270 280 290 300 VMWTLIYDTI YAHQDKRDDV LIGLKSTALR FGENTKPWLS GFSVAMLGAL SLVGVNSGQT 310 320 APYYAALGAV GAHLTHQKWG LEILPRLV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ2." Forsgren M., Attersand A., Lake S., Gruenler J., Swiezewska E., Dallner G., Climent I. Biochem. J. 382:519-526(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY. Tissue: Liver and Muscle.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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, Melanoma and Pancreatic carcinoma.
[4]	"Full-insert sequence of mapped XREF EST." Barrow I.K.-P., Boguski M.S., Touchman J.W., Spencer F. Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 104-334 (ISOFORM 3).
[5]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 198-371 (ISOFORM 3).
[6]	"A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency." Quinzii C., Naini A., Salviati L., Trevisson E., Navas P., Dimauro S., Hirano M. Am. J. Hum. Genet. 78:345-349(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COQ10D1 CYS-247.
[7]	"COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement." Diomedi-Camassei F., Di Giandomenico S., Santorelli F.M., Caridi G., Piemonte F., Montini G., Ghiggeri G.M., Murer L., Barisoni L., Pastore A., Muda A.O., Valente M.L., Bertini E., Emma F. J. Am. Soc. Nephrol. 18:2773-2780(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COQ10D1 ASN-96; HIS-147; SER-178 AND CYS-247.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ621061 mRNA. Translation: CAF18241.1. Different initiation. AC114781 Genomic DNA. No translation available. BC008804 mRNA. Translation: AAH08804.1. BC020728 mRNA. Translation: AAH20728.2. Different initiation. BC116454 mRNA. Translation: AAI16455.1. AF091086 mRNA. Translation: AAC72955.1. Frameshift. CR456860 mRNA. Translation: CAG33141.1.
IPI	IPI00305734. IPI00739586.
RefSeq	NP_056512.5. NM_015697.7.
UniGene	Hs.144304. Hs.729069.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000409275.
PTM databases
PhosphoSite	Q96H96.
Polymorphism databases
DMDM	74731901.
Proteomic databases
PaxDb	Q96H96.
PRIDE	Q96H96.
Protocols and materials databases
DNASU	27235.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000311469; ENSP00000310873; ENSG00000173085. ENST00000439031; ENSP00000409275; ENSG00000173085.
GeneID	27235.
KEGG	hsa:27235.
UCSC	uc003hog.3. human.
Organism-specific databases
CTD	27235.
GeneCards	GC04M084184.
H-InvDB	HIX0004341.
HGNC	HGNC:25223. COQ2.
MIM	607426. phenotype. 609825. gene.
neXtProt	NX_Q96H96.
Orphanet	139485. Autosomal recessive ataxia due to ubiquinone deficiency. 255249. Leigh syndrome with nephrotic syndrome.
PharmGKB	PA142672084.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0382.
HOGENOM	HOG000003697.
HOVERGEN	HBG081302.
InParanoid	Q96H96.
KO	K06125.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000173085-MONOMER.
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00232.
Gene expression databases
ArrayExpress	Q96H96.
Bgee	Q96H96.
CleanEx	HS_COQ2.
Genevestigator	Q96H96.
GermOnline	ENSG00000173085. Homo sapiens.
Family and domain databases
InterPro	IPR006370. HB_polyprenyl-transferase. IPR000537. UbiA_prenyltransferase. [Graphical view]
Pfam	PF01040. UbiA. 1 hit. [Graphical view]
TIGRFAMs	TIGR01474. ubiA_proteo. 1 hit.
PROSITE	PS00943. UBIA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27235.
NextBio	50099.
SOURCE	Search...

Entry information

Entry name

COQ2_HUMAN

Accession

Primary (citable) accession number: Q96H96
Secondary accession number(s): O95331, Q1JQ78, Q684R2

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 89 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.