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SALL1

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SALL1
Identifiers
AliasesSALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDsOMIM: 602218; MGI: 1889585; HomoloGene: 2230; GeneCards: SALL1; OMA:SALL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127892
NM_002968

NM_021390
NM_001371069
NM_001371070

RefSeq (protein)

NP_001121364
NP_002959

NP_067365
NP_001357998
NP_001357999

Location (UCSC)Chr 16: 51.14 – 51.15 MbChr 8: 89.75 – 89.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.

Function

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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

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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]

Interactions

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000103449Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031665Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 20982906.
  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.
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Further reading

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