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FLASH GENE
Symbol SAMD9L contributors: mct/npt - updated : 19-04-2023
HGNC name sterile alpha motif domain containing 9-like
HGNC id 1349
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies paralog to SAMD9
Homologene
FAMILY
CATEGORY immunity/defense
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
text
  • localizes in early endosomes
  • basic FUNCTION
  • SAMD9/SAMD9L are myeloid tumor suppressors (Asou 2009)
  • RNA interference of SAMD9L expression enhanced the migratory phenotype of activated T cells treated with IFN-beta compared with controls (Pappas 2009)
  • SAMD9 and SAMD9L have also recently been shown to play key roles in the innate immune responses to stimuli such as viral infection
  • haploinsufficiency of SAMD9L and/or SAMD9 gene(s) contributes to myeloid transformation
  • role of SAMD9L in the regulation of cell proliferation
  • has a role in cell proliferation, most likely as a tumor suppressor
  • is likely one of the crucial genes in the development of sporadic myelodysplastic syndromes and myeloid leukemias, including those characterized by deletions of chromosome 7q
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) APCTS , SCA49
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in acute myeloid leukemia, myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) (Asou 2009)
    tumoral germinal mutation      
    in myelodysplastic syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice