SH3KBP1

SH3 domain containing kinase binding protein 1

Ensembl:
ENSG00000147010
UniProt:
Q96B97
OMIM:
300374
Synonyms:
CIN85

Cilia effects upon perturbation of SH3KBP1

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

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:
increased blood uric acid level, increased defecation amount

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

EHBP1L1- and CD2AP/CIN85-depleted cells had elongated cilia. The aberrantly elongated cilia phenotype and the ciliary localization defect of CD2AP/CIN85 in EHBP1L1-depleted cells were rescued by the expression of WT EHBP1L1, although this was not observed in the CD2AP/CIN85-binding-deficient mutant, indicating that the EHBP1L1-CD2AP/CIN85 interaction is crucial for controlling ciliary length(PMID: 36754282).