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FLASH GENE
Symbol RSPRY1 contributors: mct - updated : 16-11-2015
HGNC name ring finger and SPRY domain containing 1
HGNC id 29420
Corresponding disease
SEMDRM spondyloepimetaphyseal dysplasia with mental retardation
Location 16q21      Physical location : 57.220.240 - 57.272.940
DNA
TYPE functioning gene
STRUCTURE 54.18 kb     15 Exon(s)
regulatory sequence Promoter
Binding site   enhancer
text structure
  • FAM192A-RSPRY1 common regulatory region contains a conserved E-box enhancer, which is an element bound by myogenic regulatory factors that function in the regulation of muscle-specific gene expression
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2084 - 576 - -
    - - 4169 - 576 - -
    - - 3548 - 576 - -
    - - 1286 - 117 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiensFetal
    Digestiveliver   highlyHomo sapiensFetal
     liver   highlyHomo sapiensAdult
    Lymphoid/Immunespleen   highlyHomo sapiensAdult
    Nervousbrainmidbrainsubstantia nigra moderatelyHomo sapiensAdult
     brain   highly Homo sapiensFetal
     spinal cord   lowlyHomo sapiensAdult
    Reproductivefemale systemovary  highlyHomo sapiensAdult
     male systemtestis  highlyHomo sapiensAdult
    Urinarykidney   highly Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone    Homo sapiensFetal
    Muscularstriatumskeletal highly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte Homo sapiens
    Skeletonosteoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SPRY domain
  • a putative C3HC4-type zinc finger domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION extracellular
    text
  • was found to localize to the to the cytoplasm of muscle cells
  • basic FUNCTION
  • transcriptionally induced in response to neurogenic muscle wasting
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SEMDRM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS