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FLASH GENE
Symbol SPAG6 contributors: mct - updated : 25-05-2020
HGNC name sperm associated antigen 6
HGNC id 11215
Location 10p12.2      Physical location : 22.634.398 - 22.706.538
Synonym name
  • axoneme central apparatus protein
  • sperm flagellar protein
  • protein PF16 homolog
  • testicular tissue protein Li 176
    • Synonym symbol(s) RSA1, PFIC, MGC26276, Repro-SA-1, pf16, CFAP194, CT141, FAP194, MGC26276, DKFZp434I153
    DNA
    TYPE functioning gene
    STRUCTURE 72.17 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure absence of a TATA box, and putative binding sites for several factors implicated in spermatogenesis (CREB/CREM, SOX17 and SPZ1) as well as ciliogenesis (FOXJ1
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2568 - 509 - 2017 28393201
    10 - 2422 - 458 - 2017 28393201
    11 - 2799 - 484 - 2017 28393201
    12 - 2923 - 484 - 2017 28393201
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousbrain   highly Homo sapiens
     spinal cord     Homo sapiens
    Reproductivefemale systemovary    Homo sapiens
     male systemtestis  predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivesperm cell Homo sapiens
    Reproductivespermatocyte Homo sapiens
    Reproductivespermatogonia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		eight contigous Armadillo repeats
    HOMOLOGY
    interspecies ortholog to Chlamydomonas reinhardtii PF16
    Homologene
    FAMILY cancer-testis antigen family
    CATEGORY structural protein , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • mediating protein-protein interaction
  • essential for sperm flagellar motility and is important for the maintenance of the structural integrity of mature sperm
  • axoneme central apparatus protein, is essential for function of ependymal cell cilia and sperm flagella
  • SPAG6 not only regulates cilia/flagellar motility, but that in its absence, ciliogenesis, axoneme orientation, and tracheal epithelial cell polarity are altered
  • might have a role in malignant myeloid hematologic cell proliferation and apoptosis by regulating caspase proteins and TP53
  • plays an important role in sperm flagellar function
  • is crucial for sperm motility
  • likely controlled neuronal migration as well as neurite branching and elongation
  • selectively increased expression of acetylated tubulin, a microtubule stability marker
  • new roles for SPAG6 in modulation of cell morphology, proliferation, migration, and ciliogenesis
  • plays an essential role in the process of neuronal proliferation and differentiation
  • SPAG6 and L1TD1 are tumor-specifically methylated in non-small cell lung cancer (NSCLC) and DNA methylation is involved in the transcriptional regulation of these genes
  • potential role of SPAG6 and SPAG16 stabilizing the cytoplasmic microtubules of eukaryotic cells
  • SPAG6 gene regulates tumor cell proliferation, apoptosis, invasion, and metastasis
  • likely SPAG6 gene could affect hearing by regulating the expression of SLC26A5 gene
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SPAG6 may regulate apoptosis in SCN4A through the TNFSF10 signal pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in non-small cell lung cancer (NSCLC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    SPAG6 could be a potential therapeutic target in myelodysplastic syndromes
    ANIMAL & CELL MODELS