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SALL1

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Identifiers
SymbolsSALL1 ; HEL-S-89; HSAL1; Sal-1; TBS; ZNF794
External IDsOMIM602218 MGI1889585 HomoloGene2230 GeneCards: SALL1 Gene
RNA expression pattern
File:PBB GE SALL1 206893 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez629958198
EnsemblENSG00000103449ENSMUSG00000031665
UniProtQ9NSC2Q9ER74
RefSeq (mRNA)NM_001127892NM_021390
RefSeq (protein)NP_001121364NP_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

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

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

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

References

  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. PMID 9425907. doi:10.1038/ng0198-81. 
  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. ISSN 0964-6906. PMID 11751684. doi:10.1093/hmg/10.26.3017. 
  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. ISSN 0006-291X. PMID 12200128. doi:10.1016/S0006-291X(02)02003-X. 

External links

Further reading

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

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