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FLASH GENE
Symbol RSPH1 contributors: mct - updated : 17-10-2013
HGNC name radial spoke head 1 homolog (Chlamydomonas)
HGNC id 12371
Corresponding disease
ICS25 immotile cilia syndrome 25
Location 21q22.3      Physical location : 43.892.598 - 43.916.401
Synonym name
  • testes specific A2 homolog (mouse)
  • meichroacidin
  • male meiotic metaphase chromosome-associated acidic protein
  • cancer/testis antigen 79
  • radial spoke protein 44
  • Synonym symbol(s) TSGA2, FLJ32753, RSP44, RSPH10A, CT79 , MGC126568, FLJ32753, MGC141927, TSA2
    DNA
    TYPE functioning gene
    STRUCTURE 23.82 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map see UBASH3A
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1382 38 309 in the sperm 2007 1745189
    - - - 44 - . in brain, thyroid and trachea, as in human testis 2007 1745189
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   lowly Homo sapiensAdult
    Nervousspinal cord   lowly Homo sapiensAdult
    Reproductivemale systemtestis  highly Homo sapiensAdult
    Respiratoryrespiratory tract     Homo sapiensAdult
     respiratory tracttrachea  highly Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid Homo sapiensAdult
    Respiratoryepithelial cell Homo sapiens
    cell lineage testicular germ cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an acidic N terminus, with a a Membrane Occupation Recognition Nexus (MORN) motif
  • six repeat sequences, six MORN repeats (the MORN motif is a repeat found in multiple copies in several proteins, including the junctophilins family)
  • a 7-glutamic acid sequence
  • a short hydrophobic region
  • a single potential tyrosine phosphorylation site and five casein kinase phosporylation motifs
  • an acidic C terminus
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    text
  • localizes within cilia of airway cells
  • basic FUNCTION
  • presumed to be involved in testicular germ cell differentiation and sperm formation
  • may potentially also play a role in sperm-egg interaction
  • RSPH1 could participate in the regulation process of ciliary motion
  • CELLULAR PROCESS nucleotide
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text spermiogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS25
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS