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