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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
Corresponding disease
PMLD2 hypomyelinating leukodystrophy Pelizaeus-Merzbacher-like disease 2
SPG13 spastic paraplegia 13
Location 2q33.1      Physical location : 198.351.309 - 198.364.998
Synonym name
  • P60 lymphocyte protein
  • chaperonin
  • heat shock 60kD protein 1 (chaperonin)
  • heat shock protein 65
  • mitochondrial matrix protein P1
    • Synonym symbol(s) GROEL, CH60, HSP60, CPN60, HSP65, HuCHA60, HLD4, HSP-60, SPG13
    EC.number 5.6.1.7
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text head to head with HSPE1
    STRUCTURE 13.69 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure bidirectional promoter with a SP1 transcription factor binding site
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2339 - 573 - 2019 31112866
    12 - 2319 - 573 - 2019 31112866
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Endocrineadrenal gland   highly
    Hearing/Equilibriumearinnercochlea   Rattus norvegicus
    Nervousnerve   highly
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text amnion cells
    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