TWIST1

twist family bHLH transcription factor 1

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000122691
UniProt:: Q15672
OMIM:: 601622
Synonyms:: ACS3, BHLHA38, BPES2, BPES3, CRS, CRS1, H-TWIST, SCS, TWIST

Cilia effects upon perturbation of TWIST1

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia

Ciliogenesis screen results (4 screens)

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
Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Mouse phenotype:: decreased circulating triglyceride level, abnormal autopod morphology, abnormal vertebral arch morphology, decreased prepulse inhibition, abnormal digit morphology, abnormal pelvic girdle bone morphology, abnormal skin morphology, decreased circulating amylase level, abnormal il morphology, abnormal zygomatic bone morphology, decreased circulating hdl cholesterol level, decreased circulating cholesterol level, increased lean body mass, abnormal vertebrae morphology, decreased startle reflex

Subcellular localization

nucleus

References: PMID:41493130

Functional category

Ciliary assembly/disassembly

Function

Twist1 knockout resulted in reduced ciliary length and number.

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.