SMARCC1

SWI/SNF related BAF chromatin remodeling complex subunit C1

Ensembl:
ENSG00000173473
UniProt:
Q92922
OMIM:
601732
Synonyms:
BAF155, CRACC1, RSC8, SRG3

Cilia effects upon perturbation of SMARCC1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.00) 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:
congenital hydrocephalus

Ciliopathy associations

  • Holoprosencephaly

Subcellular localization

nucleoplasm

Functional category

  • Motile cilium & axoneme

Function

Mutations in SMARCC1 cause McKusick-Kaufman Syndrome (PMID: 28753627).