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FLASH GENE
Symbol STOML1 contributors: mct/npt - updated : 23-02-2010
HGNC name stomatin (EPB72)-like 1
HGNC id 14560
Location 15q24.1      Physical location : 74.275.560 - 74.284.635
Synonym name
  • stomatin related protein 1
  • stomatin-like 1
  • UNC24 homolog
  • Synonym symbol(s) FLJ36370, SLP-1, STORP, hUNC-24, UNC24
    DNA
    TYPE anonymous DNA segment
    SPECIAL FEATURE head to head, opposite orientation
    STRUCTURE 9.07 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - LOXL1 - STOML1 - GOLGA6 - qter
    Authors Goy (00)
    regionally located 2 kb to PML, in head to head orientation
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced variants
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2116 - 398 - Gilles (2000)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    Nervousbrainforebraincerebral lobefrontal 
     brainforebraincerebral cortex  
     brainbasal nuclei   
    Respiratoryrespiratory tracttrachea  highly
    Skin/Tegumentskin   highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • bipartite protein with a major stomatin-like part at the N terminus with a beta sheet, alpha helical structure, and GYXXphi motif a targeting signal, sufficient to cause late endosomal targeting
  • two cholesterol recognition/interaction AA consensus motifs, one in the juxtamembrane region (AA 8186) and one in the SCP2 domain (sterol carrier protein-2 domain)
  • a PHB domain
  • a stomatin domain
  • a non specific lipid transfer domain at the C terminus
  • HOMOLOGY
    interspecies homolog to C.elegans UNC24
    intraspecies homolog to EPB72
    Homologene
    FAMILY
  • band 7/mec-2 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    text
  • Integral membrane protein
  • STOML1 and stomatin co-localize well in late endosomes but not at the plasma membrane, which is only positive for stomatin (Mainhofer 2009)
  • basic FUNCTION
  • regulating membrane protein function by binding sterols, perhaps by altering their local lipid environment
  • late endosomal protein, contributing to secretory lysosome exocytosis from cytotoxic T lymphocytes (Mainhofer 2009)
  • with STOML2 may form part of a docking complex, capturing secretory lysosomes at the immunological synapse (Mainhofer 2009)
  • involved in membrane trafficking and cytoplasmic lipid distribution (Mainhofer 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a complex with stomatin and, in contrast to stomatin, the distal C-terminal region of STOML1 was not involved in this complex formation (Mainhofer 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds cholesterol
  • STOML1 interacts with stomatin and is targeted to late endosomes (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    dysfunction should lead to enhanced cholesterol efflux from the late endosomal compartment (Mainhofer 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS