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FLASH GENE
Symbol HSPB8 contributors: mct - updated : 17-12-2010
HGNC name heat shock 22kDa protein 8
HGNC id 30171
Corresponding disease
CMT2L Charcot-Marie-Tooth disease, axonal, type 2L
Location 12q24.23      Physical location : 119.616.594 - 119.632.550
Synonym name
  • protein kinase H11
  • small stress protein-like protein HSP22
  • alpha-crystallin C chain
  • E2-induced gene 1 protein
  • Synonym symbol(s) E2IG1, HSP22, H11, DHMN2, HMN2, HMN2A, CRYAC
    DNA
    TYPE functioning gene
    STRUCTURE 15.96 kb     3 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2056 - 196 - 2001 11470154
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Endocrineparathyroid   highly
    Nervousbrain   predominantly Homo sapiens
     nervecranial nerve  predominantly Homo sapiens
    Reproductivemale systemprostate   
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    Nervouscentral  highly Homo sapiens
    Nervousperipherous  highly Homo sapiens
    cell lineage
    cell lines melanoma cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two binding domains (N- and C-terminal) that are specific for different binding partners
  • conserved alpha crystallin domain at the C-terminus possessing chaperone activity
  • conjugated PhosphoP
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Hs22
    Homologene
    FAMILY
  • HSP20/alpha crystallin family
  • HspB family of molecular chaperones
  • CATEGORY chaperone/stress , receptor membrane serine/threonine
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • having protein serine/threonine kinase, heat shock protein, transferase activities
  • displays chaperone activity, autokinase activity, and trigger or block apoptosis activity
  • interacts with biological membranes and many different proteins, among them glycolytic enzymes and different protein kinases
  • possesses chaperonelike activity and prevents aggregation of denatured proteins
  • HSPB8 activity is intrinsically dependent on BAG3, a protein that may facilitate the disposal of doomed proteins by stimulating macroautophagy
  • responsible for recognizing the misfolded proteins whereas BAG3, at least in part through its proline-rich domain, might recruit and activate the macroautophagy machinery in close proximity to the chaperone-loaded substrates (MID: 18094623)
  • bind to unfolded or misfolded proteins and protect them from aggregation
  • potential role of HSPB8 in ribonucleoprotein processing
  • promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis
  • its activity might be implicated in the degradation of several types of neurotoxic proteins accumulating in TARDBP-positive aggregates in most of the cases of sporadic ALS, in some familial ALS not linked to SOD1 mutations, as well as in frontotemporal dementia
  • having a role in the autophagic removal of misfolded proteins responsible for neurodegenerative diseases
  • for full HSPB8 activity, autophagy was required although, unlike HSPB7, HSPB8 did induce autophagy
  • small heat-shock protein implicated in autophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homo or heterodimers (HSP22-MKBP and HSP22-HSP27 hetero-dimers involve the N and C termini of HSP22 and HSP27)
  • form a stable molecular complex with the chaperone cohort protein BAG3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HSPB1 and HSPB2
  • interacting with CRYAB and HSPB6
  • binds to BAG3 through the hydrophobic groove formed by its strands beta4 and beta8, a region previously known to be responsible for the formation and stability of higher-order oligomers of many sHsps (small Hsps)
  • DEAD box protein DDX20 (gemin3, DP103) is an interacting partner of HSPB8
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2L
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • defects in HSPB8-mediated autophagy are likely to contribute to CMT2L pathology and their detection in peripheral blood mononuclear cells could be a useful, accessible biomarker for the disease
  • Therapy target
    ANIMAL & CELL MODELS