POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Ensembl:
ENSG00000085998
UniProt:
Q8WZA1
OMIM:
606822
Synonyms:
FLJ20277, LGMD2O, MEB, MGAT1.2

Cilia effects upon perturbation of POMGNT1

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

Human ciliopathy phenotype:
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; retinitis pigmentosa 76; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

POMGNT1 is specifically expressed in photoreceptor basal body (26908613).

Model organism evidence

Danio rerio (1 reference)

Pomgnt1 mutation in zebrafish resulted in a loss of matriglycan, retention of synaptotagmin-1-positive EYS secretory vesicles within the outer nuclear layer, and diminished EYS protein near the connecting cilia.

PMIDs: 32385361