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FLASH GENE
Symbol STOM contributors: mct - updated : 06-04-2011
HGNC name stomatin
HGNC id 3383
Corresponding disease
HHST1 hereditary hydrocytosis 1
Location 9q34.1      Physical location : 124.101.353 - 124.132.545
Synonym name erythrocyte membrane protein band 7.2 (stomatin)
Synonym symbol(s) EPB72, BND7, EPB7, BAN7
DNA
TYPE functioning gene
STRUCTURE 31.19 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
CDK5RAP2 9q33.3 CDK5 regulatory subunit associated protein 2 LOC389788 9 similar to EGFL5 LOC392387 9 similar to Ahcy protein FBXW2 9q34 F-box and WD-40 domain protein 2 PSMD5 9q33.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 PHF19 9q34.11 PHD finger protein 19 TRAF1 9q33-q34 TNF receptor-associated factor 1 C5 9q33 complement component 5 CEP1 9q33 centrosomal protein 1 RAB14 9q32-q34.11 RAB14, member RAS oncogene family LOC392388 9 similar to vacuolar H+-ATPase B subunit GSN 9q33.3 gelsolin (amyloidosis, Finnish type) MOST2 9q34.11 MOST2 protein STOM 9q34.1 stomatin a1/3GTP 9q34.11 alpha-1,3-galactosyltransferase pseudogene DAB2IP 9q33.1-q33.3 DAB2 interacting protein LOC158135 9q34.11 similar to H23L24.3.p NDUFA8 9q32.4-q34.41 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa FLJ46909 9q34.11 FLJ46909 protein LHX6 9q34.11 LIM homeobox 6 MGC2734 MRRF 9q33-q34.1 mitochondrial ribosome recycling factor PTGS1 9q32-q33.3 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) LOC347168 9q34.11 similar to Olfactory receptor 1J1 OR1J5 9q34.11 olfactory receptor, family 1, subfamily J, member 5 OR1J4 9q34.2 olfactory receptor, family 1, subfamily J, member 4 LOC138883 9q34.11 similar to Olfactory receptor 1N3 LOC138882 9q34.11 similar to Olfactory receptor 1N2
RNA
TRANSCRIPTS type messenger
text with three alternative forms generated from alternative polyadenylation signals
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 3108 - 288 - 2000 10713127
3 - 2593 - 123 - 2000 10713127
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart    
Digestiveliver    
Nervousbrain    
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte Homo sapiens
Blood/Hematopoieticplatelet
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal putative transmembrane hydrophobic domain (1TM) followed by a bipartite region made of a beta sheet and an alpha helical structure
  • a PHB domain
  • a large cytoplasmic C terminal domain
  • HOMOLOGY
    interspecies homolog to murine Epb72
    Homologene
    FAMILY BAND7/MEC2 family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • at the alpha-granular membrane
  • stomatin, sorcin, and synexin were shown to locate mainly outside induced GM1 (ganglioside M1) patches in the human erythrocyte membrane
  • basic FUNCTION
  • playing a role in the organization and function of alpha granules
  • integral membrane protein that is monotopically exposed on the cytoplasmic side of the membrane
  • regulating membrane protein function by binding sterols, perhaps by altering their local lipid environment
  • stomatin-specific, raft-based process is involved in storage-associated vesiculation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding cholesterol
  • stomatin-actin association is important in maintaining the structure and in modulating the function of stomatin-containing membrane rafts in red cells
  • STOML1 interacts with stomatin and is targeted to late endosomes (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHST1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS