BRWD1

bromodomain and WD repeat domain containing 1

Ensembl:
ENSG00000185658
UniProt:
Q9NSI6
OMIM:
617824
Synonyms:
C21ORF107, DCAF19, FLJ11315, N143, WDR9

Cilia effects upon perturbation of BRWD1

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.32) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
hypospermia, spermatogenesis defect, developmental dysplasia, abnormal spleen morphology, abnormal semil vesicle morphology, increased circulating hdl cholesterol level, abnormal skin morphology, increased circulating cholesterol level, hypoplasia
Mouse ciliopathy phenotype:
small testis, male infertility, female infertility

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia, flagella, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Ciliary membrane

Function

BRWD1 staining was detected in the whole flagella and respiratory cilia of normal controls but was absent in BRWD1-mutated individuals. (33389130).