UGGT1

UDP-glucose glycoprotein glucosyltransferase 1

Ensembl:
ENSG00000136731
UniProt:
Q9NYU2
OMIM:
605897
Synonyms:
HUGT1, UGCGL1

Cilia effects upon perturbation of UGGT1

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal blood vessel morphology, abnormal allantois morphology, abnormal pharyngeal arch morphology, embryonic growth retardation, edema, abnormal visceral yolk sac morphology, abnormal placenta morphology, preweaning lethality, complete penetrance, anophthalmia, abnormal neural tube morphology, abnormal vitelline vasculature morphology, abnormal craniofacial morphology
Mouse ciliopathy phenotype:
abnormal midbrain development, abnormal embryo turning, abnormal facial morphology, abnormal neural tube closure, abnormal liver morphology, cataract, abnormal head shape, small kidney, abnormal heart morphology, abnormal vitreous body morphology, abnormal kidney morphology, abnormal reti morphology

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation

Function

UGGT1 localized at cilia