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FLASH GENE
Symbol SPATA5 contributors: mct - updated : 12-10-2015
HGNC name spermatogenesis associated 5
HGNC id 18119
Corresponding disease
EHLMRS epilepsy, hearing loss, and mental retardation syndrome
Location 4q28.1      Physical location : 123.844.224 - 124.240.602
Synonym name
  • spermatogenesis associated factor SPAF
  • ATPase family protein 2 homolog
  • Synonym symbol(s) SPAF, AFG2, EHLMRS
    DNA
    TYPE functioning gene
    STRUCTURE 396.38 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 8152 - 893 - 2015 26299366
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine     Homo sapiens
    Lymphoid/Immunespleen     Homo sapiens
    Nervousbrainforebraincerebral cortex   Homo sapiens
     brainlimbic systemhippocampus   Homo sapiens
    Reproductivemale systemtestis    Mus musculus
     male systemtestis    Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • highly conserved ATPase domain, which is involved in a variety of cellular processes, including protein unfolding and degradation, microtubule motor movement, DNA replication, and membrane fusion
  • a putative mitochondrial targeting sequence and two AAA domains
  • HOMOLOGY
    interspecies homolog to murine Spata5
    homolog to rattus LOC361935
    Homologene
    FAMILY AAA ATPase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • involved in spermatogenesis
  • might be involved in regulating the structural integrity of mitochondria during spermatogenesis
  • might play a role in post-translational modification during cell differentiation in neuronal development
  • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • TWIST1-binding sequences associated with CHST11, LITAF, ROR2, and SPATA5 also bound the potential TWIST1 cofactor RREB1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EHLMRS
    Susceptibility to Alopecia areata (AA)
    Variant & Polymorphism SNP
  • SNP in an intronic region of the SPATA5 associated to susceptibility for AA
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS