LMPD Database

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LMP005363

UniProt Annotations

Entry Information
Gene NameUbiA prenyltransferase domain containing 1
Protein EntryUBIA1_HUMAN
UniProt IDQ9Y5Z9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5Z9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Z9-2; Sequence=VSP_019455, VSP_019456; Note=No experimental confirmation available.;
DiseaseCorneal dystrophy, Schnyder type (SCCD) [MIM
FunctionPrenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2- methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.
InteractionP04035:HMGCR; NbExp=5; IntAct=EBI-6621921, EBI-465513; P35610:SOAT1; NbExp=2; IntAct=EBI-2819725, EBI-6621955; P35610-1:SOAT1; NbExp=3; IntAct=EBI-2819725, EBI-6621997;
MiscellaneousStrongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).
PathwayCofactor biosynthesis; ubiquinone biosynthesis.
PathwayQuinol/quinone metabolism; menaquinone biosynthesis.
SimilarityBelongs to the UbiA prenyltransferase family.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.
SubunitInteracts with HMGCR and SOAT1.
Tissue SpecificityUbiquitously expressed.