RAB28

RAB28, member RAS oncogene family

Ensembl:
ENSG00000157869
UniProt:
P51157
OMIM:
612994

Cilia effects upon perturbation of RAB28

Loss-of-function effect:
No effect
Overexpression effect:
No effect

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.95) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.19) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=187, lfc=-2.17) PMID:30270045

Phenotypes

Mouse phenotype:
decreased lean body mass, abnormal vocalization, decreased bone mineral content, decreased circulating total protein level, increased circulating triglyceride level, increased total body fat amount, decreased heart weight, decreased bone mineral density, abnormal coat/hair pigmentation, abnormal bone structure
Human ciliopathy phenotype:
cone-rod dystrophy

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

basal body, flagella

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • T cell biology

Function

Associated with autosomal recessive cone-rod dystrophy. IFT-associated cargo with BBSome-dependent cell autonomous and non- autonomous functions at the ciliary base, maintaining the structural and functio l integrity of cilia (27930654). Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding (32101165)

Model organism evidence

Mus musculus (1 reference)

In the brain of furin cKO mice, impaired ciliogenesis and the derangement of microtubule structures appeared along with the down-regulated expression of RAB28, a ciliary vesicle protein.

PMIDs: 38292192

Danio rerio (1 reference)

Many ciliary proteins are essential for normal photoreceptor function and cilium dysfunction often results in retinal degeneration leading to impaired vision.

PMIDs: 32258030

C. elegans (2 references)

Together, these findings reveal that Rab28 and the BBSome are key in vivo regulators of EV production at the periciliary membrane and suggest that EVs may mediate signaling between cilia and glia to shape sensory organ compartments.

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.

PMIDs: 32101165, 27930654