SALL1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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.

AliasesSALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
End51,152,334 bp[1]
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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
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Function

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]

Interactions

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

References

Further reading

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