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Details on Person UniProt:Q96H96-6 COQ2

Class:IdReferenceIsoform:9819446
_chainChangeLogtransit peptide:1-34 for 9819446 added on Fri November 4 2022;chain:35-371 for 9819446 added on Fri November 4 2022
_displayNameUniProt:Q96H96-6 COQ2
_timestamp2025-02-21 19:57:44
chaintransit peptide:1-34
chain:35-371
checksum8BCE473A1D0C60CB
commentFUNCTION Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl donor (such as all-trans-decaprenyl diphosphate) (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). The length of the polyprenyl side chain varies depending on the species, in humans, the side chain is comprised of 10 isoprenyls (decaprenyl) producing CoQ10 (also known as ubiquinone), whereas rodents predominantly generate CoQ9 (PubMed:15153069, PubMed:16400613). However, this specificity is not complete, human tissues have low amounts of CoQ9 and rodent organs contain some CoQ10 (PubMed:15153069). Plays a central role in the biosynthesis of CoQ10 (PubMed:15153069, PubMed:16400613, PubMed:17374725). CoQ10 is a vital molecule that transports electrons from mitochondrial respiratory chain complexes (PubMed:16400613, PubMed:17374725, PubMed:27493029). CoQs also function as cofactors for uncoupling protein and play a role as regulators of the extracellularly-induced ceramide-dependent apoptotic pathway (PubMed:16400613, PubMed:17374725). Regulates mitochondrial permeability transition pore (mPTP) opening and ROS production (pivotal events in cell death) in a tissue specific manner (By similarity).CATALYTIC ACTIVITY an all-trans-polyprenyl diphosphate + 4-hydroxybenzoate = a 4-hydroxy-3-(all-trans-polyprenyl)benzoate + diphosphateCATALYTIC ACTIVITY all-trans-decaprenyl diphosphate + 4-hydroxybenzoate = 4-hydroxy-3-(all-trans-decaprenyl)benzoate + diphosphateCATALYTIC ACTIVITY all-trans-nonaprenyl diphosphate + 4-hydroxybenzoate = 4-hydroxy-3-(all-trans-nonaprenyl)benzoate + diphosphateCOFACTOR Cofactor biosynthesis; ubiquinone biosynthesis.SUBCELLULAR LOCATION Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.MISCELLANEOUS Potential minor and functional isoform produced by alternative initiation.MISCELLANEOUS Potential minor and functional isoform produced by alternative initiation.MISCELLANEOUS Potential minor and functional isoform produced by alternative initiation.SIMILARITY Belongs to the UbiA prenyltransferase family.SEQUENCE CAUTION Extended N-terminus.
created[InstanceEdit:9819394] Weiser, Joel
descriptionrecommendedName: fullName evidence="2"4-hydroxybenzoate polyprenyltransferase, mitochondrial shortName evidence="2"4-HB polyprenyltransferase ecNumber evidence="3 5 6"2.5.1.39 alternativeName: fullName evidence="15"4-hydroxybenzoate decaprenyltransferase alternativeName: COQ2 homolog shortName evidence="15"hCOQ2 alternativeName: fullName evidence="16"Para-hydroxybenzoate--polyprenyltransferase shortName evidence="2"PHB:PPT shortName evidence="2"PHB:polyprenyltransferase
geneNameCOQ2
CL640
identifierQ96H96
isoformParent
isSequenceChangedFALSE
keywordAlternative initiation
Alternative splicing
Disease variant
Isoprene biosynthesis
Membrane
Mitochondrion
Mitochondrion inner membrane
Neurodegeneration
Parkinsonism
Primary mitochondrial disease
Proteomics identification
Reference proteome
Transferase
Transit peptide
Transmembrane
Transmembrane helix
Ubiquinone biosynthesis
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameCOQ2
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8987754] ENSEMBL:ENSG00000173085 COQ2 [Homo sapiens]
secondaryIdentifierCOQ2_HUMAN
A0A1D8H0A6
O95331
Q1JQ78
Q684R2
sequenceLength371
species[Species:48887] Homo sapiens
variantIdentifierQ96H96-6
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