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FLASH GENE
Symbol ROM1 contributors: npt/ - updated : 29-12-2006
HGNC name retinal outer segment membrane protein 1
HGNC id 10254
Location 11q12.3      Physical location : 62.380.212 - 62.382.590
Synonym name
  • rod outer segment membrane protein 1
  • tetraspanin-23
  • Synonym symbol(s) ROSP1, ROM, TSPAN23
    DNA
    TYPE functioning gene
    STRUCTURE 1.97 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - MS4A2 - PGA@ - ROM1 - SLC3A2 - PYGM PYGM - D11S146 - BCL1 - qter
    Authors Bascom (92)
    Text see PYGM
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1894 37.1 351 - Bascom (1995)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Nervousnervecranial nerve  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • RDS (peripherin)/ROM1 family
  • PRPH2/ROM1 family
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • regulation of disk morphogenesis and viability of rod phosphoreceptors
  • may function as an adhesion molecule involved in stabilization and compaction of outer segment disks
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • probably forms a complex with a RDS homodimer
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource Retinal Information Network
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    double heterozygotes mutation in RDS and ROM1 develop retinitis pigmentosa (Kajiwara 1994)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS