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FLASH GENE
Symbol SALL4 contributors: mct/ - updated : 13-06-2015
HGNC name sal-like 4 (Drosophila)
HGNC id 15924
Corresponding disease
DRRS Duane radial ray syndrome
OORS oculooto radial syndrome
Location 20q13.2      Physical location : 50.400.584 - 50.419.048
Synonym name
  • zinc finger protein SALL4
  • sal-like protein 4
  • Synonym symbol(s) dJ1112F19.1, HSAL4, ZNF797, MGC133050, DRRS
    DNA
    TYPE functioning gene
    STRUCTURE 18.47 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    COX6CP2 20 cytochrome c oxidase subunit VIc pseudogene 2 PTPN1 20q13.1-q13.2 protein tyrosine phosphatase, non-receptor type 1 LOC200230 20q13.13 similar to KIAA0386 C20orf175 20 chromosome 20 open reading frame 175 RPL36P2 20q13.1 ribosomal protein L36 pseudogene 2 PARD6B 20q13.13 par-6 partitioning defective 6 homolog beta (C. elegans) BCAS4 20q13.13-q13.2 breast carcinoma amplified sequence 4 TMSL6 20 thymosin-like 6 ADNP 20q13.3-q13.2 activity-dependent neuroprotector PSMD10P 20q13.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 pseudogene DPM1 20q13.13 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit MOCS3 20 molybdenum cofactor synthesis 3 KCNG1 20q13 potassium voltage-gated channel, subfamily G, member 1 LAMR1P1 20q13.3 laminin receptor 1 pseudogene 1 NFATC2 20q13.2-q13.31 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 ATP9A 20q13.1-q13.2 ATPase, class II, type 9A SALL4 20q13.13-q13.2 sal-like 4 (Drosophila) ERP28P 20q13.13 endoplasmic reticulum lumenal protein 28 pseudogene ZFP64 20q13.13 zinc finger protein 64 homolog (mouse) MRPS33P4 20q13.13 mitochondrial ribosomal protein S33 pseudogene 4 RPL36P1 20q13 ribosomal protein L36 pseudogene 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3487 - 1053 - 2010 20837710
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Reproductivefemale systemovary   
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    cell lineage progenitor of mesodermal lineage (MPCs)
    cell lines pheochromocytoma cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight C2H2 double zinc finger motifs
  • HOMOLOGY
    interspecies ortholog to murine Sall4
    intraspecies homolog to SALL3
    Homologene
    FAMILY
  • sal C2H2-type zinc-finger protein family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,heterochromosome
    basic FUNCTION
  • involved in zinc-ion homeostasis by zinc-responsive transcriptonal regulation
  • plays positive roles in the generation of pluripotent stem cells from blastocysts and fibroblasts
  • modulates stem cell pluripotency and self-renewal capability in embryonic development and also plays a role in leukemogenesis
  • plays a central role in embryonic and leukemic stem cells
  • novel role for SALL4 in drug sensitivity, at least in part through the maintenance of side population cells, and therefore may be responsible for drug-resistance in leukemia
  • robust stimulator for the expansion of hematopoietic stem cells
  • key factor for the maintenance of pluripotency and self-renewal of embryonic stem cells
  • stem cell protein, playing a vital role in maintaining stem cell identity and governing stem cell self-renewal through transcriptional repression
  • auto- and cross-regulation of CDX4 and SALL4 establish a stable molecular circuit in the mesoderm that facilitates the activation of the blood-specific program as development proceeds
  • is a transcription factor that enhances proliferation and migration in breast cancer cells
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • link between SALL4 and BMI1 in regulating self-renewal of normal and leukemic stem cells (potential role for a SALL4/BMI1 network in leukemogenesis)
  • DNMTs and histone deacetylase repressors synergistically contribute to the regulatory effects of SALL4
  • mechanistically, SALL4 sequesters ZBTB16 to noncognate chromatin domains to induce expression of KIT, a target of ZBTB16-mediated repression required for differentiation
  • CDX1-induced SALL4 and KLF5 converted gastric epithelial cells into tissue stem-like progenitor cells, which then transdifferentiated into intestinal epithelial cell
  • TRIM21 is likely involved in nuclear SALL4 degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DRRS , OORS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    mRNA overexpression essential for embryonic development and the self-renewal of embryonic stem cells, in lung cancer
    tumoral     --over  
    causing the aberrant activation of the Wnt/beta-catenin pathway in myelodysplastic syndromes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • sensitive diagnostic marker for primary germ cell tumors of the CNS with high specificity, and is a more sensitive marker than alpha-fetoprotein and glypican-3 for yolk sac tumors
  • Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    leukemia stem cell-specific therapy by targeting SALL4
    ANIMAL & CELL MODELS