UAP1
Description
The UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1) is a protein-coding gene located on chromosome 1.
UDP-N-acetylhexosamine pyrophosphorylase is an enzyme that in humans is encoded by the UAP1 gene.
UAP1 catalyzes the final step in the biosynthesis of UDP-GlcNAc, converting UTP and glucosamine 1-phosphate (GlcNAc-1-P) to UDP-GlcNAc. It also converts UTP and galactosamine 1-phosphate (GalNAc-1-P) to UDP-GalNAc. In addition to its metabolic role, UAP1 acts as a regulator of innate immunity in response to viral infection by mediating pyrophosphorylation of IRF3. Specifically, UAP1 catalyzes the pyrophosphorylation of IRF3 phosphorylated at Ser-386 by TBK1, promoting IRF3 dimerization and activation, leading to type I interferon responses.
UAP1 is also known as AGX, AGX1, AGX2, SPAG2.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- hereditary hyperferritinemia with congenital cataracts
- breast cancer
- cataract 13 with adult I phenotype
- cataract 38
- cataract
- cochleosaccular degeneration-cataract syndrome
- X-linked endothelial corneal dystrophy
- congenital cataract-ichthyosis syndrome
- Lisch epithelial corneal dystrophy
