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FLASH GENE
Symbol HSPD1 contributors: mct - updated : 28-03-2020
HGNC name heat shock 60kDa protein 1 (chaperonin)
HGNC id 5261
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fourteen identical subunits with a structure of two stacked heptameric rings arranged around a 2-fold axis of symetry
    • HOMOLOGY
    interspecies homolog to murine Hsp60
    Homologene
    FAMILY
  • chaperonin (HSP60) family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    text
  • can accumulate in the cytosol in various pathological conditions, including cancer and chronic inflammatory diseases
    • basic FUNCTION
  • involved in mitochondrial protein import and macromolecular assembly
  • molecular chaperone involved in folding and quality control of mitochondrial proteins (Hansen 2007)
  • plays an essential role in assisting a large variety of newly synthesized proteins to reach their native forms by binding and facilitating their folding into native status inside a large central channel within each ring (Tsai 2008)
  • stimulate the best known TREM2-dependent process, phagocytosis
  • loss of HSPD1 signaling contributes to the glucocorticoid-induced enhancement of pro-apoptotic reactions, thereby accelerating osteoblast apoptosis and bone mass loss
  • might be a factor underlying adipose tissue inflammation and obesity-associated metabolic disorders
  • plays an essential role in malignant cell survival
  • HSPD1/HSPE1 may be implicated in the folding of membrane proteins
  • plays an essential role in protein homeostasis through mediating protein folding and assembly
  • is a mediator of stress-induced vascular smooth muscle cell (VSMC) proliferation
  • mediates microglial IL1B production by regulating NLRP3 inflammasome pathway
  • may play an important role in auditory function
  • major mitochondrial chaperone for maintaining mitochondrial proteostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major component of the chaperonins complex which weighs nearly a million Daltons and is composed of back-to-back rings of identical or closely related rotationally symmetric subunits (Tsai 2008)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HSPA9 through N-terminal region of HSPA9
    • (involvement in tumorigenesis, functional distinction in pathways involved in senescence)
  • binding to YBX1 in the cytoplasm and acting as a regulator of polysome association and subellular distribution of YBX1 (Ohashi 2009)
  • HSPD1 is a novel regulator of mitochondrial permeability transition, contributing to a cytoprotective chaperone network that antagonizes PPIF-dependent cell death in tumors
  • OLR1 through binding to extracellular HSPD1 promotes microglia-mediated neuroinflammation
  • LEP plays an important role in mitochondrial function and insulin sensitivity in the hypothalamus by regulating HSPD1
  • HSPD1 and SOD2 proteins interact (SOD2 likely is a substrate of the HSPD1 folding machinery and under conditions of diminished availability of HSPD1, SOD2 is impaired in reaching the native state
  • HSPD1 interacted with IRF3 and it contributed to the induction of IFNB1
  • FUS interacts with a mitochondrial chaperonin, HSPD1, and FUS translocation to mitochondria is, at least in part, mediated by HSPD1
  • is involved in the stimulation of VSMC migration, via TLR4 and ERK MAPK activation
  • co-chaperone for HSPD1, which is involved in the mitochondrial protein-folding machinery
  • showed pro-inflammatory properties in bronchial epithelial cells mediated by activation of TLR4-related molecules
  • possesses a GTPase activity and mediates protein folding with HSPE1
  • VSMC proliferation can be modulated via an HSPD1 dependent, cytosol localized mechanism that in part involves a stimulation of nuclear protein import through an interaction with RAN
  • induces the phosphorylation and nuclear localization of NFKB1
  • HSPD1 further activates NLRP3 inflammasome by elevating NLRP3 expression both at RNA and protein levels
  • HSPD1 negatively regulates the biological functions of ubiquitin-like protein FAU in macrophages
  • HSPD1 might repress CDH1 expression and promote metastatic characters of Buccal mucosa squamous cell carcinoma (BMSCC) cells for poor prognosis of BMSCC patients
    • cell & other
    REGULATION
    activated by MYC (is critical for MYC mediated transformation) (Tsai 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG13 , PMLD2
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in ovarian cancer, pancreatic cancer, large bowel carcinoma (Tsai 2008)
    tumoral     --low  
    in clear cell renal cell carcinoma (ccRCC) (pMID: 31112866)
    tumoral     --low  
    in hepatocellular carcinoma tissues compared to peritumor tissues
    tumoral     --over  
    in glioblastoma patients
    Susceptibility to sudden infant death syndrome (SIDS)
    Variant & Polymorphism SNP
  • pathogenic variant of rs72466451 may play a role in a subgroup of SIDS cases with impaired HSPD1-mediated stress response
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    might serve as a potential therapeutic target in the treatment of HCC
    cancerbrainglioma/neuroblstoma
    is a potential therapeutic target for glioblastoma treatment
    ANIMAL & CELL MODELS