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FLASH GENE
Symbol SAMD9L contributors: mct/npt - updated : 29-06-2016
HGNC name sterile alpha motif domain containing 9-like
HGNC id 1349
Corresponding disease
APCTS Ataxia-pancytopenia syndrome
Location 7q21.3      Physical location : 92.759.367 - 92.777.680
Synonym name chromosome 7 open reading frame 6
Synonym symbol(s) C7orf6, KIAA2005, FLJ39885, DRIF2, UEF1, UEF
DNA
TYPE functioning gene
STRUCTURE 18.35 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 7133 184.4 1584 - 2007 17407603
6 - 6793 - 1584 - 2007 17407603
4 - 6397 - 1584 - 2007 17407603
5 - 6529 - 1584 - 2007 17407603
5 - 6954 - 1584 - 2007 17407603
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   moderately
Digestiveliver   moderately
 stomach   moderately
Nervousbrainhindbraincerebellum lowly Homo sapiens
Reproductivefemale systemuterus  highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow    Homo sapiens
Nervouscentral    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies paralog to SAMD9
Homologene
FAMILY
CATEGORY immunity/defense
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endosome
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
    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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS