UBIAD1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

AliasesUBIAD1, SCCD, TERE1, UbiA prenyltransferase domain containing 1
End11,296,049 bp[1]
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UBIAD1
Identifiers
AliasesUBIAD1, SCCD, TERE1, UbiA prenyltransferase domain containing 1
External IDsOMIM: 611632; MGI: 1918957; HomoloGene: 8336; GeneCards: UBIAD1; OMA:UBIAD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 4: 148.52 – 148.53 Mb
PubMed search[3][4]
Wikidata
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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.[8]

Recent evidence suggests that UBIAD1 has enzymatic activity in the vitamin K pathway, converting menadione to MK-4.[9][10] This translates to a role in blood vessel development in zebrafish.[11]

Clinical significance

Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.[12][13][14]

References

Further reading

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