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Q96H96

- COQ2_HUMAN

UniProt

Q96H96 - COQ2_HUMAN

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Protein

4-hydroxybenzoate polyprenyltransferase, mitochondrial

Gene

COQ2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate.1 Publication

Pathwayi

GO - Molecular functioni

  1. 4-hydroxybenzoate decaprenyltransferase activity Source: UniProtKB-EC
  2. 4-hydroxybenzoate nonaprenyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. glycerol metabolic process Source: UniProtKB
  3. isoprenoid biosynthetic process Source: UniProtKB-KW
  4. small molecule metabolic process Source: Reactome
  5. ubiquinone biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Isoprene biosynthesis, Ubiquinone biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000173085-MONOMER.
ReactomeiREACT_118595. Mitochondrial protein import.
REACT_160111. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
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 namesi
Name:COQ2
Synonyms:CL640
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:25223. COQ2.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961S → N in COQ10D1. 1 Publication
VAR_068161
Natural varianti147 – 1471R → H in COQ10D1. 1 Publication
VAR_068162
Natural varianti178 – 1781N → S in COQ10D1. 1 Publication
VAR_068163
Natural varianti247 – 2471Y → C in COQ10D1. 2 Publications
VAR_025701
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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291F → L in MSA1; associated with disease susceptibility. 1 Publication
VAR_070239
Natural varianti49 – 491P → H in MSA1; associated with disease susceptibility. 1 Publication
VAR_070240
Natural varianti57 – 571S → T in MSA1; associated with disease susceptibility. 1 Publication
VAR_070241
Natural varianti78 – 781M → V in MSA1; associated with disease susceptibility. 1 Publication
VAR_070243
Natural varianti97 – 971I → T in MSA1; associated with disease susceptibility. 1 Publication
VAR_070244
Natural varianti107 – 1071P → S in MSA1; associated with disease susceptibility. 1 Publication
VAR_070245
Natural varianti113 – 1131S → F in MSA1; associated with disease susceptibility. 1 Publication
VAR_070246
Natural varianti267 – 2671T → A in MSA1; associated with disease susceptibility. 1 Publication
VAR_070247
Natural varianti297 – 2971S → C in MSA1; associated with disease susceptibility. 1 Publication
VAR_070248
Natural varianti337 – 3371R → Q in MSA1; associated with disease susceptibility. 1 Publication
VAR_070250
Natural varianti343 – 3431V → A in MSA1; associated with disease susceptibility. 1 Publication
VAR_070251

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinsonism

Organism-specific databases

MIMi146500. phenotype.
607426. phenotype.
Orphaneti255249. Leigh syndrome with nephrotic syndrome.
227510. Multiple system atrophy, cerebellar type.
98933. Multiple system atrophy, parkinsonian type.
PharmGKBiPA142672084.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3434MitochondrionSequence AnalysisAdd
BLAST
Chaini35 – 3713374-hydroxybenzoate polyprenyltransferase, mitochondrialPRO_0000228623Add
BLAST

Proteomic databases

MaxQBiQ96H96.
PaxDbiQ96H96.
PRIDEiQ96H96.

PTM databases

PhosphoSiteiQ96H96.

Expressioni

Tissue specificityi

Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.1 Publication

Gene expression databases

BgeeiQ96H96.
CleanExiHS_COQ2.
ExpressionAtlasiQ96H96. baseline and differential.
GenevestigatoriQ96H96.

Organism-specific databases

HPAiHPA056599.

Interactioni

Protein-protein interaction databases

BioGridi118083. 2 interactions.
STRINGi9606.ENSP00000409275.

Structurei

3D structure databases

ProteinModelPortaliQ96H96.
SMRiQ96H96. Positions 114-310.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei84 – 10421HelicalSequence AnalysisAdd
BLAST
Transmembranei109 – 12921HelicalSequence AnalysisAdd
BLAST
Transmembranei149 – 16921HelicalSequence AnalysisAdd
BLAST
Transmembranei173 – 19321HelicalSequence AnalysisAdd
BLAST
Transmembranei204 – 22421HelicalSequence AnalysisAdd
BLAST
Transmembranei232 – 25221HelicalSequence AnalysisAdd
BLAST
Transmembranei278 – 29821HelicalSequence AnalysisAdd
BLAST
Transmembranei301 – 32121HelicalSequence AnalysisAdd
BLAST
Transmembranei333 – 35321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the UbiA prenyltransferase family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0382.
HOGENOMiHOG000003697.
HOVERGENiHBG081302.
InParanoidiQ96H96.
KOiK06125.
PhylomeDBiQ96H96.
TreeFamiTF105873.

Family and domain databases

InterProiIPR006370. HB_polyprenyl-transferase.
IPR000537. UbiA_prenyltransferase.
[Graphical view]
PfamiPF01040. UbiA. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01474. ubiA_proteo. 1 hit.
PROSITEiPS00943. UBIA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96H96-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MLGSRAAGFA RGLRALALAW LPGWRGRSFA LARAAGAPHG GDLQPPACPE
60 70 80 90 100
PRGRQLSLSA AAVVDSAPRP LQPYLRLMRL DKPIGTWLLY LPCTWSIGLA
110 120 130 140 150
AEPGCFPDWY MLSLFGTGAI LMRGAGCTIN DMWDQDYDKK VTRTANRPIA
160 170 180 190 200
AGDISTFQSF VFLGGQLTLA LGVLLCLNYY SIALGAGSLL LVITYPLMKR
210 220 230 240 250
ISYWPQLALG LTFNWGALLG WSAIKGSCDP SVCLPLYFSG VMWTLIYDTI
260 270 280 290 300
YAHQDKRDDV LIGLKSTALR FGENTKPWLS GFSVAMLGAL SLVGVNSGQT
310 320 330 340 350
APYYAALGAV GAHLTHQIYT LDIHRPEDCW NKFISNRTLG LIVFLGIVLG
360 370
NLWKEKKTDK TKKGIENKIE N
Length:371
Mass (Da):40,489
Last modified:December 1, 2001 - v1
Checksum:i92371F0DD373A732
GO
Isoform 3 (identifier: Q96H96-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:328
Mass (Da):35,468
Checksum:i386A0430F0BC890B
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → V.1 Publication
Corresponds to variant rs6818847 [ dbSNP | Ensembl ].
VAR_070237
Natural varianti22 – 221P → L.1 Publication
VAR_070238
Natural varianti29 – 291F → L in MSA1; associated with disease susceptibility. 1 Publication
VAR_070239
Natural varianti49 – 491P → H in MSA1; associated with disease susceptibility. 1 Publication
VAR_070240
Natural varianti57 – 571S → T in MSA1; associated with disease susceptibility. 1 Publication
VAR_070241
Natural varianti69 – 691R → H.1 Publication
VAR_070242
Natural varianti78 – 781M → V in MSA1; associated with disease susceptibility. 1 Publication
VAR_070243
Natural varianti96 – 961S → N in COQ10D1. 1 Publication
VAR_068161
Natural varianti97 – 971I → T in MSA1; associated with disease susceptibility. 1 Publication
VAR_070244
Natural varianti107 – 1071P → S in MSA1; associated with disease susceptibility. 1 Publication
VAR_070245
Natural varianti113 – 1131S → F in MSA1; associated with disease susceptibility. 1 Publication
VAR_070246
Natural varianti147 – 1471R → H in COQ10D1. 1 Publication
VAR_068162
Natural varianti178 – 1781N → S in COQ10D1. 1 Publication
VAR_068163
Natural varianti247 – 2471Y → C in COQ10D1. 2 Publications
VAR_025701
Natural varianti267 – 2671T → A in MSA1; associated with disease susceptibility. 1 Publication
VAR_070247
Natural varianti297 – 2971S → C in MSA1; associated with disease susceptibility. 1 Publication
VAR_070248
Natural varianti336 – 3361N → H.1 Publication
VAR_070249
Natural varianti337 – 3371R → Q in MSA1; associated with disease susceptibility. 1 Publication
VAR_070250
Natural varianti343 – 3431V → A in MSA1; associated with disease susceptibility. 1 Publication
VAR_070251

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei318 – 33417IYTLD…WNKFI → KWGLEILPRLV in isoform 3. 2 PublicationsVSP_017677Add
BLAST
Alternative sequencei335 – 37137Missing in isoform 3. 2 PublicationsVSP_017678Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
RefSeqiNP_056512.5. NM_015697.7.
UniGeneiHs.144304.
Hs.729069.

Genome annotation databases

EnsembliENST00000311469; ENSP00000310873; ENSG00000173085.
ENST00000439031; ENSP00000409275; ENSG00000173085.
GeneIDi27235.
KEGGihsa:27235.
UCSCiuc003hog.3. human. [Q96H96-1]

Polymorphism databases

DMDMi74731901.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
RefSeqi NP_056512.5. NM_015697.7.
UniGenei Hs.144304.
Hs.729069.

3D structure databases

ProteinModelPortali Q96H96.
SMRi Q96H96. Positions 114-310.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118083. 2 interactions.
STRINGi 9606.ENSP00000409275.

PTM databases

PhosphoSitei Q96H96.

Polymorphism databases

DMDMi 74731901.

Proteomic databases

MaxQBi Q96H96.
PaxDbi Q96H96.
PRIDEi Q96H96.

Protocols and materials databases

DNASUi 27235.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311469 ; ENSP00000310873 ; ENSG00000173085 .
ENST00000439031 ; ENSP00000409275 ; ENSG00000173085 .
GeneIDi 27235.
KEGGi hsa:27235.
UCSCi uc003hog.3. human. [Q96H96-1 ]

Organism-specific databases

CTDi 27235.
GeneCardsi GC04M084184.
H-InvDB HIX0004341.
HGNCi HGNC:25223. COQ2.
HPAi HPA056599.
MIMi 146500. phenotype.
607426. phenotype.
609825. gene.
neXtProti NX_Q96H96.
Orphaneti 255249. Leigh syndrome with nephrotic syndrome.
227510. Multiple system atrophy, cerebellar type.
98933. Multiple system atrophy, parkinsonian type.
PharmGKBi PA142672084.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0382.
HOGENOMi HOG000003697.
HOVERGENi HBG081302.
InParanoidi Q96H96.
KOi K06125.
PhylomeDBi Q96H96.
TreeFami TF105873.

Enzyme and pathway databases

UniPathwayi UPA00232 .
BioCyci MetaCyc:ENSG00000173085-MONOMER.
Reactomei REACT_118595. Mitochondrial protein import.
REACT_160111. Ubiquinol biosynthesis.

Miscellaneous databases

GeneWikii COQ2.
GenomeRNAii 27235.
NextBioi 50099.
PROi Q96H96.
SOURCEi Search...

Gene expression databases

Bgeei Q96H96.
CleanExi HS_COQ2.
ExpressionAtlasi Q96H96. baseline and differential.
Genevestigatori Q96H96.

Family and domain databases

InterProi IPR006370. HB_polyprenyl-transferase.
IPR000537. UbiA_prenyltransferase.
[Graphical view ]
Pfami PF01040. UbiA. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR01474. ubiA_proteo. 1 hit.
PROSITEi PS00943. UBIA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiCOQ2_HUMAN
AccessioniPrimary (citable) accession number: Q96H96
Secondary accession number(s): O95331, Q1JQ78, Q684R2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3