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Protein

4-hydroxybenzoate polyprenyltransferase, mitochondrial

Gene

COQ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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, generating the first membrane-bound Q intermediate.UniRule annotation4 Publications

Catalytic activityi

A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate.UniRule annotation3 Publications

Cofactori

Mg2+UniRule annotation

Pathwayi: ubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.UniRule annotation
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

GO - Molecular functioni

  • 4-hydroxybenzoate decaprenyltransferase activity Source: UniProtKB
  • 4-hydroxybenzoate nonaprenyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  • glycerol metabolic process Source: UniProtKB
  • isoprenoid biosynthetic process Source: UniProtKB-KW
  • 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.
ZFISH:ENSG00000173085-MONOMER.
BRENDAi2.5.1.39. 2681.
ReactomeiR-HSA-1268020. Mitochondrial protein import.
R-HSA-2142789. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
4-hydroxybenzoate polyprenyltransferase, mitochondrialUniRule annotation (EC:2.5.1.39UniRule annotation3 Publications)
Short name:
4-HB polyprenyltransferaseUniRule annotation
Alternative name(s):
4-hydroxybenzoate decaprenyltransferaseUniRule annotation
COQ2 homolog
Short name:
hCOQ2
Para-hydroxybenzoate--polyprenyltransferaseUniRule annotation
Short name:
PHB:PPTUniRule annotation
Short name:
PHB:polyprenyltransferaseUniRule annotation
Gene namesi
Name:COQ2UniRule annotation
Synonyms:CL640
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25223. COQ2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini35 – 83Mitochondrial matrix1 PublicationAdd BLAST49
Transmembranei84 – 104HelicalUniRule annotationAdd BLAST21
Topological domaini105 – 108Mitochondrial intermembrane1 Publication4
Transmembranei109 – 129HelicalUniRule annotationAdd BLAST21
Topological domaini130 – 148Mitochondrial matrix1 PublicationAdd BLAST19
Transmembranei149 – 169HelicalUniRule annotationAdd BLAST21
Topological domaini170 – 172Mitochondrial intermembrane1 Publication3
Transmembranei173 – 193HelicalUniRule annotationAdd BLAST21
Topological domaini194 – 203Mitochondrial matrix1 Publication10
Transmembranei204 – 224HelicalUniRule annotationAdd BLAST21
Topological domaini225 – 231Mitochondrial intermembrane1 Publication7
Transmembranei232 – 252HelicalUniRule annotationAdd BLAST21
Topological domaini253 – 277Mitochondrial matrix1 PublicationAdd BLAST25
Transmembranei278 – 298HelicalUniRule annotationAdd BLAST21
Topological domaini299 – 300Mitochondrial intermembrane1 Publication2
Transmembranei301 – 321HelicalUniRule annotationAdd BLAST21
Topological domaini322 – 332Mitochondrial matrix1 PublicationAdd BLAST11
Transmembranei333 – 353HelicalUniRule annotationAdd BLAST21
Topological domaini354 – 371Mitochondrial intermembrane1 PublicationAdd BLAST18

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 1 (COQ10D1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:607426
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06816196S → N in COQ10D1; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_076913132M → R in COQ10D1; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_068162147R → H in COQ10D1; loss of ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_068163178N → S in COQ10D1; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_025701247Y → C in COQ10D1; decreased 4-hydroxybenzoate decaprenyltransferase activity. 4 Publications1
Natural variantiVAR_076914252A → V in COQ10D1; loss of ubiquinone biosynthesis. 2 Publications1
Multiple system atrophy 1 (MSA1)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:146500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07023929F → L in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_07024049P → H in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_07024157S → T in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_07024378M → V in MSA1; associated with disease susceptibility; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_07024497I → T in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070245107P → S in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070246113S → F in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070247267T → A in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070248297S → C in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070250337R → Q in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070251343V → A in MSA1; associated with disease susceptibility. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinsonism

Organism-specific databases

DisGeNETi27235.
MalaCardsiCOQ2.
MIMi146500. phenotype.
607426. phenotype.
Orphaneti255249. Leigh syndrome with nephrotic syndrome.
227510. Multiple system atrophy, cerebellar type.
98933. Multiple system atrophy, parkinsonian type.
PharmGKBiPA142672084.

Polymorphism and mutation databases

DMDMi74731901.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 34MitochondrionUniRule annotationAdd BLAST34
ChainiPRO_000022862335 – 3714-hydroxybenzoate polyprenyltransferase, mitochondrialUniRule annotationAdd BLAST337

Proteomic databases

MaxQBiQ96H96.
PaxDbiQ96H96.
PeptideAtlasiQ96H96.
PRIDEiQ96H96.

PTM databases

iPTMnetiQ96H96.
PhosphoSitePlusiQ96H96.

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

BgeeiENSG00000173085.
CleanExiHS_COQ2.
ExpressionAtlasiQ96H96. baseline and differential.
GenevisibleiQ96H96. HS.

Organism-specific databases

HPAiHPA056599.
HPA068727.

Interactioni

Protein-protein interaction databases

BioGridi118083. 16 interactors.
STRINGi9606.ENSP00000310873.

Structurei

3D structure databases

ProteinModelPortaliQ96H96.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni122 – 144Allylic polyprenyl diphosphate-binding siteUniRule annotationAdd BLAST23

Sequence similaritiesi

Belongs to the UbiA prenyltransferase family.UniRule annotation

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1381. Eukaryota.
COG0382. LUCA.
HOGENOMiHOG000003697.
HOVERGENiHBG081302.
InParanoidiQ96H96.
KOiK06125.
OrthoDBiEOG091G0K82.
PhylomeDBiQ96H96.
TreeFamiTF105873.

Family and domain databases

HAMAPiMF_01635. UbiA. 1 hit.
InterProiIPR031103. HB_octoprenylTrfase.
IPR006370. HB_polyprenyltransferase.
IPR000537. UbiA_prenyltransferase.
IPR030470. UbiA_prenylTrfase_CS.
[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. AlignAdd to basket

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 differs from that shown. Reason: Frameshift at position 172.Curated
The sequence AAH20728 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAF18241 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07023716L → V.1 PublicationCorresponds to variant rs6818847dbSNPEnsembl.1
Natural variantiVAR_07023822P → L.1 Publication1
Natural variantiVAR_07023929F → L in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_07024049P → H in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_07024157S → T in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_07024269R → H.1 Publication1
Natural variantiVAR_07024378M → V in MSA1; associated with disease susceptibility; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_06816196S → N in COQ10D1; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_07024497I → T in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070245107P → S in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070246113S → F in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_076913132M → R in COQ10D1; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_068162147R → H in COQ10D1; loss of ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_068163178N → S in COQ10D1; decreased ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_025701247Y → C in COQ10D1; decreased 4-hydroxybenzoate decaprenyltransferase activity. 4 Publications1
Natural variantiVAR_076914252A → V in COQ10D1; loss of ubiquinone biosynthesis. 2 Publications1
Natural variantiVAR_070247267T → A in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070248297S → C in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070249336N → H.1 Publication1
Natural variantiVAR_070250337R → Q in MSA1; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_070251343V → A in MSA1; associated with disease susceptibility. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017677318 – 334IYTLD…WNKFI → KWGLEILPRLV in isoform 3. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_017678335 – 371Missing in isoform 3. 2 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ96H96.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118083. 16 interactors.
STRINGi9606.ENSP00000310873.

PTM databases

iPTMnetiQ96H96.
PhosphoSitePlusiQ96H96.

Polymorphism and mutation databases

DMDMi74731901.

Proteomic databases

MaxQBiQ96H96.
PaxDbiQ96H96.
PeptideAtlasiQ96H96.
PRIDEiQ96H96.

Protocols and materials databases

DNASUi27235.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi27235.
DisGeNETi27235.
GeneCardsiCOQ2.
H-InvDBHIX0004341.
HGNCiHGNC:25223. COQ2.
HPAiHPA056599.
HPA068727.
MalaCardsiCOQ2.
MIMi146500. phenotype.
607426. phenotype.
609825. gene.
neXtProtiNX_Q96H96.
Orphaneti255249. Leigh syndrome with nephrotic syndrome.
227510. Multiple system atrophy, cerebellar type.
98933. Multiple system atrophy, parkinsonian type.
PharmGKBiPA142672084.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1381. Eukaryota.
COG0382. LUCA.
HOGENOMiHOG000003697.
HOVERGENiHBG081302.
InParanoidiQ96H96.
KOiK06125.
OrthoDBiEOG091G0K82.
PhylomeDBiQ96H96.
TreeFamiTF105873.

Enzyme and pathway databases

UniPathwayiUPA00232.
BioCyciMetaCyc:ENSG00000173085-MONOMER.
ZFISH:ENSG00000173085-MONOMER.
BRENDAi2.5.1.39. 2681.
ReactomeiR-HSA-1268020. Mitochondrial protein import.
R-HSA-2142789. Ubiquinol biosynthesis.

Miscellaneous databases

GeneWikiiCOQ2.
GenomeRNAii27235.
PROiQ96H96.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173085.
CleanExiHS_COQ2.
ExpressionAtlasiQ96H96. baseline and differential.
GenevisibleiQ96H96. HS.

Family and domain databases

HAMAPiMF_01635. UbiA. 1 hit.
InterProiIPR031103. HB_octoprenylTrfase.
IPR006370. HB_polyprenyltransferase.
IPR000537. UbiA_prenyltransferase.
IPR030470. UbiA_prenylTrfase_CS.
[Graphical view]
PfamiPF01040. UbiA. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01474. ubiA_proteo. 1 hit.
PROSITEiPS00943. UBIA. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 123 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.