RUVBL1

RuvB like AAA ATPase 1

Ensembl:
ENSG00000175792
UniProt:
Q9Y265
OMIM:
603449
Synonyms:
ECP54, INO80H, NMP238, PONTIN52, RVB1

Cilia effects upon perturbation of RUVBL1

Loss-of-function effect:
No effect

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.82) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased mean corpuscular volume, preweaning lethality, complete penetrance, increased mean corpuscular hemoglobin concentration, increased blood urea nitrogen level
Mouse ciliopathy phenotype:
increased circulating creatinine level

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Metabolism
  • Protein processing & maturation
  • Cell migration & adhesion

Function

Role in the pre-assembly and targeting of ciliary protein complexes. Ruvbl1 may be a major organiser of dynein arm complex assembly (29959317). Essential for cilia motility in both zebrafish and mouse, cooperating with Ruvbl2 through the assembly of ciliary ODAs and IDAs, requires Ruvbl2 for stability. Essential for the stabilization of axonemal dynein intermediate chain 1 (D I1) and D I2 in mouse,and facilitates dynein arm assembly in cytosolic foci enriched with R2TP-like complexes (29113992). Depletion of HsRuvBL1 in RPE1 cells leads to the loss of primary cilia (28574207).

Model organism evidence

Xenopus (1 reference)

We investigated the developmental significance of Ruvbl1 in multiciliated cells of the Xenopus laevis epidermis since ruvbl1 is expressed in the multiciliated cells and pronephros during X.

PMIDs: 38074458

Drosophila (1 reference)

Cytoplasmic cilia, a specialized type of cilia in which the axoneme resides within the cytoplasm rather than within the ciliary compartment, are proposed to allow for the efficient assembly of very long cilia.

PMIDs: 32706373