SALL1

Sal-like 1 (Drosophila)
Identifiers
Symbols	SALL1; HSAL1; Sal-1; TBS; ZNF794
External IDs	OMIM: 602218 MGI: 1889585 HomoloGene: 2230 GeneCards: SALL1 Gene
Gene Ontology Molecular function • DNA binding • sequence-specific DNA binding transcription factor activity • histone deacetylase activity • protein binding • beta-catenin binding • zinc ion binding • metal ion binding Cellular component • heterochromatin • intracellular • nucleus • cytoplasm • chromocenter • NuRD complex Biological process • negative regulation of transcription from RNA polymerase II promoter • ureteric bud development • branching involved in ureteric bud morphogenesis • kidney development • ventricular septum development • mesenchymal to epithelial transition involved in metanephros morphogenesis • transcription, DNA-dependent • regulation of transcription, DNA-dependent • heart development • gonad development • histone deacetylation • olfactory nerve development • olfactory bulb interneuron differentiation • pituitary gland development • positive regulation of Wnt receptor signaling pathway • adrenal gland development • inductive cell-cell signaling • outer ear morphogenesis • embryonic digit morphogenesis • negative regulation of transcription, DNA-dependent • positive regulation of transcription, DNA-dependent • positive regulation of transcription from RNA polymerase II promoter • embryonic digestive tract development • limb development • olfactory bulb mitral cell layer development • kidney epithelium development • ureteric bud invasion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6299	58198
Ensembl	ENSG00000103449	ENSMUSG00000031665
UniProt	Q9NSC2	Q6P5E3
RefSeq (mRNA)	NM_001127892.1	NM_021390.3
RefSeq (protein)	NP_001121364.1	NP_067365.2
Location (UCSC)	Chr 16: 51.17 – 51.19 Mb	Chr 8: 91.55 – 91.57 Mb
PubMed search	[1]	[2]

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

Function

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.

Clinical significance

Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.

Interactions

SALL1 has been shown to interact with TERF1 and UBE2I.

External links

• GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome

Further reading

• Nishinakamura R, Takasato M (2006). "Essential roles of Sall1 in kidney development.". Kidney Int. 68 (5): 1948–50. doi:10.1111/j.1523-1755.2005.00626.x. PMID 16221172. 
• Sweetman D, Münsterberg A (2006). "The vertebrate spalt genes in development and disease.". Dev. Biol. 293 (2): 285–93. doi:10.1016/j.ydbio.2006.02.009. PMID 16545361. 
• Kohlhase J, Schuh R, Dowe G et al. (1997). "Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt". Genomics 38 (3): 291–8. doi:10.1006/geno.1996.0631. PMID 8975705. 
• Kohlhase J, Wischermann A, Reichenbach H et al. (1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nat. Genet. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907. 
• Kohlhase J, Taschner PE, Burfeind P et al. (1999). "Molecular analysis of SALL1 mutations in Townes-Brocks syndrome". Am. J. Hum. Genet. 64 (2): 435–45. doi:10.1086/302238. PMC 1377753. PMID 9973281. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377753. 
• Marlin S, Blanchard S, Slim R et al. (2000). "Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient". Hum. Mutat. 14 (5): 377–86. doi:10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. PMID 10533063. 
• Engels S, Kohlhase J, McGaughran J (2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". J. Med. Genet. 37 (6): 458–60. doi:10.1136/jmg.37.6.458. PMC 1734618. PMID 10928856. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734618. 
• Buck A, Archangelo L, Dixkens C, Kohlhase J (2000). "Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1". Cytogenet. Cell Genet. 89 (3–4): 150–3. doi:10.1159/000015598. PMID 10965108. 
• Surka WS, Kohlhase J, Neunert CE et al. (2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects". Am. J. Med. Genet. 102 (3): 250–7. doi:10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q. PMID 11484202. 
• Netzer C, Rieger L, Brero A et al. (2002). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Hum. Mol. Genet. 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. PMID 11751684. 
• Kiefer SM, McDill BW, Yang J, Rauchman M (2002). "Murine Sall1 represses transcription by recruiting a histone deacetylase complex". J. Biol. Chem. 277 (17): 14869–76. doi:10.1074/jbc.M200052200. PMID 11836251. 
• Ma Y, Chai L, Cortez SC et al. (2002). "SALL1 expression in the human pituitary-adrenal/gonadal axis". J. Endocrinol. 173 (3): 437–48. doi:10.1677/joe.0.1730437. PMID 12065233. 
• Netzer C, Bohlander SK, Rieger L et al. (2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochem. Biophys. Res. Commun. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Sato A, Kishida S, Tanaka T et al. (2004). "Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin". Biochem. Biophys. Res. Commun. 319 (1): 103–13. doi:10.1016/j.bbrc.2004.04.156. PMID 15158448. 
• Suzuki Y, Yamashita R, Shirota M et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=515316. 
• Botzenhart EM, Green A, Ilyina H et al. (2006). "SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype". Hum. Mutat. 26 (3): 282. doi:10.1002/humu.9362. PMID 16088922. 
• Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129. 
• Borozdin W, Steinmann K, Albrecht B et al. (2006). "Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome". Hum. Mutat. 27 (2): 211–2. doi:10.1002/humu.9396. PMID 16429401. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.