PQBP1

polyglutamine binding protein 1

Ensembl:
ENSG00000102103, ENSG00000292208
UniProt:
O60828
OMIM:
300463
Synonyms:
MRX2, MRX55, MRXS3, MRXS8, RENS1

Cilia effects upon perturbation of PQBP1

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

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.82) 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:
abnormal embryo size

Subcellular localization

basal body, cilia, flagella, nucleus

Functional category

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

Function

Interacts with and inhibits Dymin 2 to induce neuro l ciliogenesis. Forms a complex with the GTPase Dymin 2 and thereby inhibits its GTPase activity. Mutations of the PQBP1 WW domain cause recessive X-linked intellectual disability. Mouse embryos were electroporated with the PQBP1 RNAi or control U6 RNAi plasmid together with the GFP expression plasmid and subjected to immunohistochemistry at P10 with the GFP and AC3 antibodies. Arrows indicate the primary cilium. PQBP1 RNAi reduced the number of neurons bearing a cilium. Scale bar, 5 μm. (23994472).

Model organism evidence

Mus musculus (1 reference)

Here, we report that knockdown of the X-linked ID (XLID) protein polyglutamine-binding protein 1 (PQBP1) in neurons profoundly impairs the morphogenesis of the primary cilium, including in the mouse cerebral cortex in vivo.

PMIDs: 23994472