SALL1

SALL1
Identifiers
Aliases	SALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDs	MGI: 1889585 HomoloGene: 2230 GeneCards: SALL1
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • beta-catenin binding • histone deacetylase activity • transcription factor activity, sequence-specific DNA binding • metal ion binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • protein binding • nucleic acid binding • transcription regulatory region DNA binding Cellular component • cytoplasm • NuRD complex • nucleoplasm • heterochromatin • chromocenter • nucleus Biological process • neurogenesis • ureteric bud development • pituitary gland development • kidney epithelium development • inductive cell-cell signaling • regulation of transcription, DNA-templated • olfactory bulb mitral cell layer development • ventricular septum development • olfactory bulb interneuron differentiation • somatic stem cell population maintenance • kidney development • embryonic digit morphogenesis • mesenchymal to epithelial transition involved in metanephros morphogenesis • outer ear morphogenesis • olfactory nerve development • negative regulation of transcription from RNA polymerase II promoter • adrenal gland development • ureteric bud invasion • GO:0006350 transcription, DNA-templated • limb development • positive regulation of Wnt signaling pathway • positive regulation of transcription, DNA-templated • heart development • branching involved in ureteric bud morphogenesis • negative regulation of transcription, DNA-templated • gonad development • embryonic digestive tract development • positive regulation of transcription from RNA polymerase II promoter • histone deacetylation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6299	58198
Ensembl	ENSG00000103449	ENSMUSG00000031665
UniProt	Q9NSC2	Q9ER74 Q6P5E3
RefSeq (mRNA)	NM_001127892 NM_002968	NM_021390
RefSeq (protein)	NP_001121364 NP_002959	NP_067365
Location (UCSC)	Chr 16: 51.14 – 51.15 Mb	Chr 8: 89.03 – 89.04 Mb
PubMed search

6299

58198

ENSG00000103449

ENSMUSG00000031665

Q9NSC2

Q9ER74
Q6P5E3

NM_001127892
NM_002968

NM_021390

NP_001121364
NP_002959

NP_067365

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

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

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.

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Wikipedia