SALL1

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SALL1
Identifiers
Aliases SALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1
External IDs MGI: 1889585 HomoloGene: 2230 GeneCards: 6299
RNA expression pattern
PBB GE SALL1 206893 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127892
NM_002968

NM_021390

RefSeq (protein)

NP_001121364.1
NP_002959.2

n/a

Location (UCSC) Chr 16: 51.14 – 51.15 Mb Chr 8: 89.03 – 89.04 Mb
PubMed search [1] [2]
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.[3][4] 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.[3]

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.[3]

Interactions[edit]

SALL1 has been shown to interact with TERF1[5] and UBE2I.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b c "Entrez Gene: SALL1 sal-like 1 (Drosophila)". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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[edit]

Further reading[edit]

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