UBIAD1

 UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by the UBIAD1 gene.^[5][6][7]

UBIAD1
Identifiers
Aliases	UBIAD1, SCCD, TERE1, UbiA prenyltransferase domain containing 1
External IDs	OMIM: 611632 MGI: 1918957 HomoloGene: 8336 GeneCards: UBIAD1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.22 Start 11,273,206 bp[1] End 11,296,049 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E2 Start 148,434,495 bp[2] End 148,444,771 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • antioxidant activity • GO:0001948 protein binding • prenyltransferase activity • transferase activity, transferring alkyl or aryl (other than methyl) groups Cellular component • cytoplasm • integral component of membrane • integral component of Golgi membrane • Golgi apparatus • endoplasmic reticulum membrane • membrane • mitochondrial membranes • Golgi membrane • endoplasmic reticulum • mitochondrion • cell nucleus Biological process • menaquinone biosynthetic process • ubiquinone biosynthetic process • vitamin K biosynthetic process • vitamin K metabolic process • cellular oxidant detoxification • ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	29914	71707
Ensembl	ENSG00000120942	ENSMUSG00000047719
UniProt	Q9Y5Z9	Q9DC60
RefSeq (mRNA)	NM_013319 NM_001330349 NM_001330350	NM_027873
RefSeq (protein)	NP_001317278 NP_001317279 NP_037451	NP_082149
Location (UCSC)	Chr 1: 11.27 – 11.3 Mb	Chr 4: 148.43 – 148.44 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

The enzyme is named for its canonical role in ubiquinone production. Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, a role in blood vessel development, and may be involved in oxidative stress pathways.^[8][9][10]

Clinical significanceEdit

Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.^[11][12]>^[13]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.