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FLASH GENE
Symbol SALL1 contributors: mct/pgu - updated : 21-02-2018
HGNC name sal-like 1 (Drosophila)
HGNC id 10524
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C2HC zinc finger motif at the N terminus not present in SAL
  • four double zinc finger motifs (DZP) with a simple domain C2H2 associated to the third domain, (GALD4DB)
  • including glutamamine proline alanine and serine rich regions
  • one KRAB domain
    • HOMOLOGY
    interspecies homolog to Drosophila homeotic gene Sal-like 1
    intraspecies homolog to SALL3
    Homologene
    FAMILY
  • sal C2H2-type zinc-finger protein family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,heterochromosome
    text nuclear localization to punctate nuclear foci (pericentromeric heterochromatin)
    basic FUNCTION
  • transcriptional repressor involved in organogenesis
  • having an important role in the interaactions of the pituitary-adrenal/gonadal axis during reproduction
  • enhancing the canonical Wnt signaling by localizing to heterochromatin
  • zinc-finger transcription factor linked to chromatin-mediated repression
  • modulates gene expression and regulates organogenesis, including kidney development
  • induces angiogenesis by stimulating VEGFA promoter activity
  • essential for ureteric bud attraction in kidney development
  • SALL1-dependent signals from the metanephric mesenchyme are required to modulate ureteric bud tip Wnt patterning in order to initiate branching
  • multi-zinc finger transcription factor that regulates kidney organogenesis
  • novel role for SALL1 as a member of the transcriptional network that regulates stem cell pluripotency
  • nuclear transcription factor, is required to maintain the stemness of nephron progenitor cells 2)
  • role for SALL1 in maintaining the stemness of the progenitor cell pool by restraining their differentiation into renal vesicles 2)
  • SALL1, is expressed in SIX2-positive progenitors as well as differentiating nascent nephrons, and it is essential for kidney formation
  • SALL1 marks cardiac progenitor cells (CPCs) in an undifferentiated state and regulates cardiac differentiation
  • regulates microglial morphology during development
  • transcriptional regulation by SALL1 maintains microglial identity and physiological properties in the CNS and allows microglia-specific manipulation
  • SALL1 is likely involved in feedback control, a common theme in SHH pathway regulation
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcriptional repressor
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TERF1,SALL ptoteins
  • HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2
  • GBX2 is a direct target gene of SALL1, and is directly repressed in a NuRD-dependent fashion
  • interacts with KIF26B (KIF26B acts downstream of SALL1 and regulates the adhesion of mesenchymal cells surrounding ureteric buds)
  • expressed in a differentiation-dependent manner and physically interacts with NANOg and SOX2, two components of the core pluripotency network
  • SALL1 activates progenitor-related genes in SIX2-positive nephron progenitors and represses gene expression in SIX2-negative differentiating nascent nephrons
  • is required for normal expression of SALL1 and other microglial genes that are important for microglial development and function
  • interacts with the nucleosome remodeling and deacetylase complex (NuRD) to inhibit premature differentiation of nephron progenitor cells
  • important function of SALL1-NuRD interaction in the regulation of SIX2-positive multipotent renal progenitor cells and formation of the loop of Henle
  • both endogenous CCP110 and CEP97 were able to bind to both SALL1FL and SALL1 mutant
  • TRIM21 degrades both SALL1 and SALL4
    • cell & other
    REGULATION
    Other regulation of its activity during development through post-translational modification by sumoylation
    ASSOCIATED DISORDERS
    corresponding disease(s) TBS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sall1 deletion in Six2-positive nephron progenitors results in severe progenitor depletion and apoptosis of the differentiating nephrons in mice