SALL1
spalt like transcription factor 1
- Ensembl:
- ENSG00000103449
- UniProt:
- Q9NSC2
- OMIM:
- 602218
- Synonyms:
- HSAL1, TBS, ZNF794
Cilia effects upon perturbation of SALL1
- Cilia number / % ciliated:
- Incrased cilia number
- Loss-of-function effect:
- Longer cilia
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
Ciliopathy associations
- Townes-Brocks Syndrome
Subcellular localization
basal body, nucleus
Functional category
- Ciliary assembly/disassembly
- Cardiac & muscle development
- Transcription regulation
Function
Zinc-finger transcription factor that mediates transcriptio l repression via its interaction with the nucleosome- remodeling deacetylase (NuRD) complex. Truncated SALL1 interacts with or sequester factors related to cilia function, including the negative regulators of ciliogenesis CCP110 and CEP97. SALL1 mutations can disrupt cilia formation and function (29395072). Truncated SALL1 increases the ubiquitin proteasome- mediated degradation of LUZP1, contributing to Townes-Brocks Syndrome (32553112).