Gene/Proteome Database (LMPD)

LMPD ID
LMP004370
Gene ID
27235
Species
Homo sapiens (Human)
Gene Name
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Gene Symbol
COQ2
Synonyms
CL640; COQ10D1; MSA1
Alternate Names
4-hydroxybenzoate polyprenyltransferase, mitochondrial; PHB:polyprenyltransferase; coenzyme Q2 homolog, prenyltransferase; para-hydroxybenzoate-polyprenyltransferase, mitochondrial
Chromosome
4
Map Location
4q21.23
EC Number
2.5.1.39
Summary
This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]
Orthologs
View orthologs and multiple alignments for COQ2

Proteins

4-hydroxybenzoate polyprenyltransferase, mitochondrial
Refseq ID NP_056512
Protein GI 260656052
UniProt ID Q96H96
mRNA ID NM_015697
Length 421
RefSeq Status REVIEWED
MTPISQVRMRKGSAHTAAQPGRLGLHPAGATAHACRGMTSIRARPGLTSAMLGSRAAGFARGLRAVALAWLPGWRGRSFALARAAGAPHGGDLQPPACPEPRGRQLSLSAAAVVDSAPRPLQPYLRLMRLDKPIGTWLLYLPCTWSIGLAAEPGCFPDWYMLSLFGTGAILMRGAGCTINDMWDQDYDKKVTRTANRPIAAGDISTFQSFVFLGGQLTLALGVLLCLNYYSIALGAGSLLLVITYPLMKRISYWPQLALGLTFNWGALLGWSAIKGSCDPSVCLPLYFSGVMWTLIYDTIYAHQDKRDDVLIGLKSTALRFGENTKPWLSGFSVAMLGALSLVGVNSGQTAPYYAALGAVGAHLTHQIYTLDIHRPEDCWNKFISNRTLGLIVFLGIVLGNLWKEKKTDKTKKGIENKIEN

Gene Information

Entrez Gene ID
27235
Gene Name
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Gene Symbol
COQ2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0005743 TAS:Reactome C mitochondrial inner membrane
GO:0002083 IEA:UniProtKB-EC F 4-hydroxybenzoate decaprenyltransferase activity
GO:0047293 IEA:UniProtKB-EC F 4-hydroxybenzoate nonaprenyltransferase activity
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0006071 IGI:UniProtKB P glycerol metabolic process
GO:0008299 IEA:UniProtKB-KW P isoprenoid biosynthetic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006744 IDA:UniProtKB P ubiquinone biosynthetic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00130 Ubiquinone and other terpenoid-quinone biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_118595 Mitochondrial protein import
REACT_160111 Ubiquinol biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR006370 4-hydroxybenzoate polyprenyl transferase
IPR000537 UbiA prenyltransferase family

UniProt Annotations

Entry Information

Gene Name
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
Protein Entry
COQ2_HUMAN
UniProt ID
Q96H96
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96H96-1; Sequence=Displayed; Name=3; IsoId=Q96H96-3; Sequence=VSP_017677, VSP_017678;
Catalytic Activity A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate.
Disease Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM
Disease Multiple system atrophy 1 (MSA1) [MIM
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.
Pathway Cofactor biosynthesis; ubiquinone biosynthesis.
Sequence Caution Sequence=AAC72955.1; Type=Frameshift; Positions=172; Evidence= ; Sequence=AAH20728.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ; Sequence=CAF18241.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
Similarity Belongs to the UbiA prenyltransferase family.
Subcellular Location Mitochondrion membrane ; Multi- pass membrane protein .
Tissue Specificity Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.

Identical and Related Proteins

Unique RefSeq proteins for LMP004370 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
260656052 RefSeq NP_056512 421 4-hydroxybenzoate polyprenyltransferase, mitochondrial

Identical Sequences to LMP004370 proteins

Reference Database Accession Length Protein Name

Related Sequences to LMP004370 proteins

Reference Database Accession Length Protein Name
GI:260656052 EMBL CAF18241.1 421 para-hydroxybenzoate--polyprenyltransferase, mitochondrial precursor [Homo sapiens]
GI:260656052 GenBank AHD76161.1 421 Sequence 19434 from patent US 8586006
GI:260656052 RefSeq XP_526592.2 421 PREDICTED: 4-hydroxybenzoate polyprenyltransferase, mitochondrial [Pan troglodytes]
GI:260656052 RefSeq XP_003832295.1 421 PREDICTED: 4-hydroxybenzoate polyprenyltransferase, mitochondrial [Pan paniscus]
GI:260656052 RefSeq XP_004038957.1 421 PREDICTED: 4-hydroxybenzoate polyprenyltransferase, mitochondrial [Gorilla gorilla gorilla]
GI:260656052 RefSeq XP_010357256.1 422 PREDICTED: LOW QUALITY PROTEIN: 4-hydroxybenzoate polyprenyltransferase, mitochondrial [Rhinopithecus roxellana]