TAF1

TATA-box binding protein associated factor 1

Ensembl:
ENSG00000147133
UniProt:
P21675
OMIM:
313650
Synonyms:
BA2R, CCG1, CCGS, DYT3, DYT3/TAF1

Cilia effects upon perturbation of TAF1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.21) 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:
intellectual disability, X-linked, syndromic 33; congenital heart disease; Abnormal heart morphology

Ciliopathy associations

  • Cornelia de Lange Syndrome

Subcellular localization

nucleoplasm

Functional category

  • Motile cilium & axoneme

Function

Mutations in TAF1 cause Cornelia de Lange Syndrome (PMID: 37377026).