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Q96H96 (COQ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length371 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

Multiple system atrophy 1 (MSA1) [MIM:146500]: A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.8

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3434Mitochondrion Potential
Chain35 – 3713374-hydroxybenzoate polyprenyltransferase, mitochondrial
PRO_0000228623

Regions

Transmembrane84 – 10421Helical; Potential
Transmembrane109 – 12921Helical; Potential
Transmembrane149 – 16921Helical; Potential
Transmembrane173 – 19321Helical; Potential
Transmembrane204 – 22421Helical; Potential
Transmembrane232 – 25221Helical; Potential
Transmembrane278 – 29821Helical; Potential
Transmembrane301 – 32121Helical; Potential
Transmembrane333 – 35321Helical; Potential

Natural variations

Alternative sequence318 – 33417IYTLD…WNKFI → KWGLEILPRLV in isoform 3.
VSP_017677
Alternative sequence335 – 37137Missing in isoform 3.
VSP_017678
Natural variant161L → V. Ref.8
Corresponds to variant rs6818847 [ dbSNP | Ensembl ].
VAR_070237
Natural variant221P → L. Ref.8
VAR_070238
Natural variant291F → L in MSA1; associated with disease susceptibility. Ref.8
VAR_070239
Natural variant491P → H in MSA1; associated with disease susceptibility. Ref.8
VAR_070240
Natural variant571S → T in MSA1; associated with disease susceptibility. Ref.8
VAR_070241
Natural variant691R → H. Ref.8
VAR_070242
Natural variant781M → V in MSA1; associated with disease susceptibility. Ref.8
VAR_070243
Natural variant961S → N in COQ10D1. Ref.7
VAR_068161
Natural variant971I → T in MSA1; associated with disease susceptibility. Ref.8
VAR_070244
Natural variant1071P → S in MSA1; associated with disease susceptibility. Ref.8
VAR_070245
Natural variant1131S → F in MSA1; associated with disease susceptibility. Ref.8
VAR_070246
Natural variant1471R → H in COQ10D1. Ref.7
VAR_068162
Natural variant1781N → S in COQ10D1. Ref.7
VAR_068163
Natural variant2471Y → C in COQ10D1. Ref.6 Ref.7
VAR_025701
Natural variant2671T → A in MSA1; associated with disease susceptibility. Ref.8
VAR_070247
Natural variant2971S → C in MSA1; associated with disease susceptibility. Ref.8
VAR_070248
Natural variant3361N → H. Ref.8
VAR_070249
Natural variant3371R → Q in MSA1; associated with disease susceptibility. Ref.8
VAR_070250
Natural variant3431V → A in MSA1; associated with disease susceptibility. Ref.8
VAR_070251

Sequences

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

Last modified December 1, 2001. Version 1.
Checksum: 92371F0DD373A732

FASTA37140,489
        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 

« Hide

Isoform 3 [UniParc].

Checksum: 386A0430F0BC890B
Show »

FASTA32835,468

References

« Hide '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. expand/collapse author list , 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.
[8]"Mutations in COQ2 in familial and sporadic multiple-system atrophy."
Multiple-System Atrophy Research Collaboration
N. Engl. J. Med. 369:233-244(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MSA1 LEU-29; HIS-49; THR-57; VAL-78; THR-97; SER-107; PHE-113; ALA-267; CYS-297; GLN-337 AND ALA-343, VARIANTS VAL-16; LEU-22; HIS-69 AND HIS-336.
+Additional computationally mapped references.

Web resources

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.
RefSeqNP_056512.5. NM_015697.7.
UniGeneHs.144304.
Hs.729069.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118083. 2 interactions.
STRING9606.ENSP00000409275.

PTM databases

PhosphoSiteQ96H96.

Polymorphism databases

DMDM74731901.

Proteomic databases

PaxDbQ96H96.
PRIDEQ96H96.

Protocols and materials databases

DNASU27235.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311469; ENSP00000310873; ENSG00000173085.
ENST00000439031; ENSP00000409275; ENSG00000173085.
GeneID27235.
KEGGhsa:27235.
UCSCuc003hog.3. human. [Q96H96-1]

Organism-specific databases

CTD27235.
GeneCardsGC04M084184.
H-InvDBHIX0004341.
HGNCHGNC:25223. COQ2.
HPAHPA056599.
MIM146500. phenotype.
607426. phenotype.
609825. gene.
neXtProtNX_Q96H96.
Orphanet255249. Leigh syndrome with nephrotic syndrome.
227510. Multiple system atrophy, cerebellar type.
98933. Multiple system atrophy, parkinsonian type.
PharmGKBPA142672084.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0382.
HOGENOMHOG000003697.
HOVERGENHBG081302.
InParanoidQ96H96.
KOK06125.
PhylomeDBQ96H96.
TreeFamTF105873.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000173085-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_17015. Metabolism of proteins.
UniPathwayUPA00232.

Gene expression databases

ArrayExpressQ96H96.
BgeeQ96H96.
CleanExHS_COQ2.
GenevestigatorQ96H96.

Family and domain databases

InterProIPR006370. HB_polyprenyl-transferase.
IPR000537. UbiA_prenyltransferase.
[Graphical view]
PfamPF01040. UbiA. 1 hit.
[Graphical view]
TIGRFAMsTIGR01474. ubiA_proteo. 1 hit.
PROSITEPS00943. UBIA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCOQ2.
GenomeRNAi27235.
NextBio50099.
PROQ96H96.
SOURCESearch...

Entry information

Entry nameCOQ2_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 98 of the entry and version 1 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 4

Human chromosome 4: entries, gene names and cross-references to MIM