VPS45

vacuolar protein sorting 45 homolog

Ensembl:
ENSG00000136631
UniProt:
Q9NRW7
OMIM:
610035
Synonyms:
H-VPS45, H1, VPS45A, VPS45B

Cilia effects upon perturbation of VPS45

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Unknown

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.79) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Human ciliopathy phenotype:
congenital neutropenia-myelofibrosis-nephromegaly syndrome; Recurrent infections-myelofibrosis-nephromegaly syndrome

Subcellular localization

basal body, transition zone

Functional category

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

Function

Regulates cilium length and morphology, ciliary and preciliary membrane volume. Interacts with RABS-5 to control periciliary vesicle number, levels of polycystin- 2, fusion and maturation of specific cilium-derived endocytic vesicles and early endosomes (29572244).

Model organism evidence

C. elegans (1 reference)

Here, using Caenorhabditis elegans, we describe closely linked functions for early endosome (EE) maturation factors RABS-5 (Rabenosyn-5) and VPS-45 (VPS45) in regulating cilium length and morphology, ciliary and periciliary membrane volume, and ciliary signalling-related sensory behaviour.

PMIDs: 29572244