UBIAD1

Also known as SCCD, TERE1, UbiA prenyltransferase domain containing 1

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.

Gene data

UBIAD1

Name: UbiA prenyltransferase domain containing 1
Type: protein-coding
Position: 11,273,198–11,296,049 (+)
Aliases: SCCD, TERE1
Ensembl: ENSG00000120942
RefSeq RNA: NM_001330349.2, NM_001330350.2, NM_013319.3, XM_047418727.1, XM_054336191.1
RefSeq protein: NP_001317278.1, NP_001317279.1, NP_037451.1, XP_047274683.1, XP_054192166.1

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008].

Pathways

Metabolism Metabolism of vitamins and cofactors Metabolism of vitamin K Metabolism of fat-soluble vitamins

via MyGene.info

Wikidata facts

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HomoloGene ID: 8336
exact match: identifiers.org/ncbigene/29914
genomic start: 11273198
genomic end: 11356106
cytogenetic location: 1p36.22

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Clinical significance
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Further reading

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.

The enzyme is named for its canonical role in ubiquinone production, catalyzing reaction EC 2.5.1.39; it thus has a role in oxidative stress pathways.