SNAP29

synaptosome associated protein 29

Ensembl:
ENSG00000099940
UniProt:
O95721
OMIM:
604202
Synonyms:
CEDNIK, SNAP-29

Cilia effects upon perturbation of SNAP29

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.11) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
extramedullary hemopoiesis, hyperplasia, increased bone mineral content, increased bone mineral density, increased lean body mass, decreased total body fat amount

Subcellular localization

autophagosomes, basal body, centrosome, mitochondria

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Protein processing & maturation
  • Ciliary membrane

Function

S RE membrane fusion regulator that binds to EHD1 and EHD3. This interaction is required for assembly of ciliary vesicle from small distal appendage vesicles (25686250). Role in Golgi trafficking and vesicle fusion. Mutations cause CEDNIK syndrome (15968592, 21073448).

Model organism evidence

Mus musculus (1 reference)

So far, it has been shown to be involved in membrane fusion, epidermal differentiation, formation of primary cilia, and autophagy.

PMIDs: 34069872