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FLASH GENE
Symbol STOML1 contributors: mct/npt - updated : 23-02-2010
HGNC name stomatin (EPB72)-like 1
HGNC id 14560
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 81–86) 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