SALL1

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Spalt-like transcription factor 1
Identifiers
Symbols SALL1 ; HEL-S-89; HSAL1; Sal-1; TBS; ZNF794
External IDs OMIM602218 MGI1889585 HomoloGene2230 GeneCards: SALL1 Gene
RNA expression pattern
PBB GE SALL1 206893 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6299 58198
Ensembl ENSG00000103449 ENSMUSG00000031665
UniProt Q9NSC2 Q9ER74
RefSeq (mRNA) NM_001127892 NM_021390
RefSeq (protein) NP_001121364 NP_067365
Location (UCSC) Chr 16:
51.17 – 51.19 Mb
Chr 8:
89.03 – 89.04 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.[1][2] As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

Function[edit]

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.[1]

Clinical significance[edit]

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.[1]

Interactions[edit]

SALL1 has been shown to interact with TERF1[3] and UBE2I.[4]

References[edit]

  1. ^ a b c "Entrez Gene: SALL1 sal-like 1 (Drosophila)". 
  2. ^ Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (January 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. 
  3. ^ Netzer, C; Rieger L; Brero A; Zhang C D; Hinzke M; Kohlhase J; Bohlander S K (Dec 2001). "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. (England) 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. ISSN 0964-6906. PMID 11751684. 
  4. ^ Netzer, Christian; Bohlander Stefan K; Rieger Leonie; Müller Stefan; Kohlhase Jürgen (August 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochem. Biophys. Res. Commun. (United States) 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. ISSN 0006-291X. PMID 12200128. 

External links[edit]

Further reading[edit]

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