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FLASH GENE
Symbol IZUMO1 contributors: npt/mct/pgu - updated : 09-02-2009
HGNC name izumo sperm-egg fusion 1
HGNC id 28539
Location 19q13.33      Physical location : 49.244.146 - 49.250.166
Synonym name sperm-specific protein izumo
Synonym symbol(s) MGC34799, IZUMO, FLJ61440
DNA
TYPE functioning gene
STRUCTURE 6.02 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 1621 39 350 - 2008 18952059
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an extracellular immunoglobulin domain
  • one putative glycosylation site
  • four putative O-glycosylation sites at the 268th, 274th, 279th and 282nd threonine
  • conjugated GlycoP
    mono polymer complex
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • CATEGORY adhesion , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • type I membrane protein
  • hidden under the plasma membrane, becoming detectable on sperm surface only after the acrosome reaction
  • basic FUNCTION
  • involved in membrane fusion between sperm and egg (essentiel for fusion)
  • involved in the fertilization process in sperm
  • membrane protein that is not exposed to the outside of sperm, but is hidden under the plasma membrane before acrosome reaction
  • membrane protein that is not exposed to the outside of sperm, but is hidden under the plasma membrane before acrosome reaction
  • playing a role in oocyte-spermatozoa fusion failure
  • sperm protein that is essential for gamete fusion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other protected by N-glycan from fragmentation during sperm maturation in epididymis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mice deficient in Izumo by homologous recombination with deletion of exons 2 through 10 are healthy mice with fertile females but sterile males with normal reproductive behavior and sperm migration to the perivitelline spaces
  • sterility of Izumo -/- sperm
  • heterozygote males had no impairment of fertility
  • intracytoplasmic sperm injection using mutant sperm resulted in successful fertilization of eggs that implanted normally and developed to term