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FLASH GENE
Symbol GSN contributors: mct/npt/pgu - updated : 06-05-2014
HGNC name gelsolin (amyloidosis, Finnish type)
HGNC id 4620
Corresponding disease
FAP4 familial amyloid polyneuropathy IV
Location 9q33.2      Physical location : 124.030.379 - 124.095.120
Synonym name
  • brevin
  • actin-depolymerizing factor
  • Synonym symbol(s) GELS, DKFZp313L0718, ADF, AGEL
    DNA
    TYPE functioning gene
    STRUCTURE 64.74 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D9S29 - TNC - D9S154 - D9S41 - D9S26 - D9S21 /D9S103 - GSN - D9S49 - D9S60 ,AK1 AK1 - D9S61 - qter
    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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2719 83 782 - 2009 19666512
    secreted form
    18 - 2685 81 731 - 2009 19666512
    cytoplasmic form
    19 - 2764 - 731 - 2009 19666512
    19 - 2797 - 731 - 2009 19666512
    19 - 2759 - 731 - 2009 19666512
    19 - 2756 - 742 - 2009 19666512
    19 - 2747 - 742 - 2009 19666512
    17 - 2592 - 731 - 2009 19666512
    - - 2579 - 748 - 2009 19666512
    - - 2656 - 739 - 2009 19666512
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     mouth   highly
    Hearing/Equilibriumearouter    Homo sapiens
    Nervousnervecranial nerve  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    Hearing / Equilibriumhair cell receptor Homo sapiens
    Lymphoid/Immunemacrophage
    NervousSchawnn cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two tandem homologous halves, each containing a three-fold segmental repeat,
  • the N half representing a Ca2+ insensitive, PIP2 sensitive severing site
  • the C half, a Ca2+ dependent actin binding and capping site, separated by a linker cleaved by caspase 3
  • six gelsolin-like repeats
  • HOMOLOGY
    intraspecies homolog to villin
    Homologene
    FAMILY
  • villin/gelsolin family
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • implicated in actin remodeling in growing and in apoptotic cells
  • can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed
  • with calponin are reported to play signaling roles in addition to their better-characterized actin-binding properties and it is possible that the GCC regulates both of these functions
  • calcium-regulated actin severing and capping protein, having biological role in cardiac remodeling
  • important contributor to heart failure progression through novel mechanisms of HIF-1alpha and DNase I activation and downregulation of antiapoptotic survival factors
  • required for macrophage recruitment during remyelination of the peripheral nervous system
  • plays a role in the actin polymerization complex of hair cell stereocilia
  • ACSL1 and gelsolin are oppositely regulated in adipogenesis and lipogenesis
  • regulate dynamic actin filament organization by severing and capping
  • also regulates cell morphology, differentiation, movement, and apoptosis
  • CELLULAR PROCESS cell life, cell death/apoptosis
    cell organization/biogenesis
    cell communication
    PHYSIOLOGICAL PROCESS
    text putatively recycling filaments at the leading edge of motile cells
    PATHWAY
    metabolism
    signaling
    a component
  • form a tight gelsolin:calponin complex (GCC)
  • FHL1 exists as part of a complex that binds with PDLIM1, GSN and ACTN1
  • part of the whirlin complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to actin and to fibronectin
  • can physically interact with TP53
  • GSN associates with the N-terminus of STXN4 to regulate insulin granule exocytosis
  • induces cardiomyocyte hypertrophy and NPPB expression via MAPK14 signaling and GATA4 transcriptional factor activation
  • cell & other
    REGULATION
    activated by hypoxia (hypoxia stimulates expression of CAPG and GSN via HIF1A-dependent and -independent pathways, respectively, and this up-regulation may contribute to the increased motility of pulmonary artery smooth muscle cells under hypoxia)
    Other calcium Ca2+ and polyphosphoinositide 4,5-biphosphate (PIP2)-regulated
    cleaved by CASP3 to form a potential effector of morphologic change during apoptosis
    ASSOCIATED DISORDERS
    corresponding disease(s) FAP4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    is highly expressed in murine and human hearts after myocardial infarction and is associated with progression of heart failure
    tumoral     --low  
    in pancreatic cancer and enhanced targeting of gelsolin to the ubiquitin-proteasome pathway is an important contributing factor for this effect
    tumoral     --low  
    in breast cancer tissues and is linked with metastasis development and death in patients
    constitutional       loss of function
    inactivation of gelsolin during sperm capacitation occurs by its binding to PIP(2) and tyrosine phosphorylation by SRC
    Susceptibility
    Variant & Polymorphism
    Candidate gene for malignant pleural mesothelioma
    Marker
  • CSF-gelsolin level might reflect the alteration of gelsolin in brain tissue of epileptic patients and CSF-gelsolin seems to be a potential biomarker for epilepsy
  • Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    inhibition of GSN may form a novel target for heart failure therapy
    ANIMAL & CELL MODELS
  • GSN(-/-) mice have a surprisingly lower mortality, markedly reduced hypertrophy, smaller late infarct size, less interstitial fibrosis, and improved cardiac function when compared with GSN(+/+) mice
  • in Gsn(-/-) mice, emigration of newly generated cells from the subventricular zone into the olfactory bulb was slowed