RefSeq (protein)



Location (UCSC) Chr 16: 51.14 – 51.15 Mb Chr 8: 89.03 – 89.04 Mb PubMed search [3] [4] Wikidata
View/Edit Human View/Edit Mouse

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene.[5][6] As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.


The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.[5]

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.[5]


SALL1 has been shown to interact with TERF1[7] and UBE2I.[8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000103449 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031665 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c "Entrez Gene: SALL1 sal-like 1 (Drosophila)". 
  6. ^ Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (Jan 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907. 
  7. ^ Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK (Dec 2001). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Human Molecular Genetics. 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. PMID 11751684. 
  8. ^ Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J (Aug 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochemical and Biophysical Research Communications. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128. 

External links

Further reading

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