DAB1

DAB adaptor protein 1

Ensembl:
ENSG00000173406
UniProt:
O75553
OMIM:
603448

Cilia effects upon perturbation of DAB1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.96) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia type 37

Subcellular localization

cilia associated gene, cytosol

Functional category

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

Function

Mutations in the DAB1 gene cause Spinocerebellar Ataxia (PMID: 28686858).