InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UBIAD1

Summary

InnateDB Protein

IDBP-89343.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UBIAD1

Protein Name

UbiA prenyltransferase domain containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000366006

InnateDB Gene

IDBG-89341 (UBIAD1)

Protein Structure

UniProt Annotation

Function

Prenyltransferase 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. {ECO:0000269PubMed:20953171, ECO:0000269PubMed:23374346}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.

Disease Associations

Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared. {ECO:0000269PubMed:17668063, ECO:0000269PubMed:17962451, ECO:0000269PubMed:18176953, ECO:0000269PubMed:19429578, ECO:0000269PubMed:19649163, ECO:0000269PubMed:20489584, ECO:0000269PubMed:20505825}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:11314041}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004659	prenyltransferase activity
GO:0005515	protein binding
GO:0016209	antioxidant activity

Biological Process

GO:0006744	ubiquinone biosynthetic process
GO:0009234	menaquinone biosynthetic process
GO:0042371	vitamin K biosynthetic process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030173	integral component of Golgi membrane
GO:0031966	mitochondrial membrane