CRMP1

collapsin response mediator protein 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000072832
UniProt:
Q14194
OMIM:
602462
Synonyms:
DPYSL1, DRP-1

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:
abnormal skin morphology

Ciliopathy associations

  • Ellis-van Creveld Syndrome

References: PMID:39669252

Subcellular localization

centrosome, cytosol

Functional category

  • Motile cilium & axoneme

Function

CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome(39669252).