Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HSPD1 contributors: SGE/npt - updated : 25-05-2007
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
    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
    Physical map
    LOC391470 2 similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) SLC39A10 2q33.1 solute carrier family 39 (zinc transporter), member 10 DNAH7 2q33-1 dynein, axonemal, heavy polypeptide 7 STK17B 2q33.1 serine/threonine kinase 17b (apoptosis-inducing) NEDL2 2q33.1 serine/threonine kinase 17b (apoptosis-inducing) FLJ39660 2q33.1 hypothetical protein FLJ39660 LOC200624 2q33.1 hypothetical LOC200624 DKFZp434P055 2q33.1 hypothetical protein DKFZp434P055 GTF3C3 2q33.1 general transcription factor IIIC, polypeptide 3, 102kDa LOC389068 2 similar to ISPD3024 FLJ12377 LOC91526 2q33.1 hypothetical protein DKFZp434D2328 LOC391471 2 similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 SF3B1 2p23.3-q34 splicing factor 3b, subunit 1, 155kDa FLJ13448 2q33.1 hypothetical protein FLJ13448 HSPD1 2q33.1 heat shock 60kDa protein 1 (chaperonin) HSPE1 2q33.1 heat shock 10kDa protein 1 (chaperonin 10) PREI3 2q33.1 preimplantation protein 3 C2orf11 2q33.1 chromosome 2 open reading frame 11 LOC92935 2q33.1 hypothetical protein BC009115 BOLL 2q33.1 bol, boule-like (Drosophila) PLCL1 2q33 phospholipase C-like 1 SATB2 2q32-q33 SATB family member 2 FLJ32063 2q33.1 hypothetical protein FLJ32063 LOC389069 2 similar to selenophosphate synthetase 1 LOC389070 2 LOC389070 FLJ38973 2q33.1 hypothetical protein FLJ38973 FLJ37953 2q33.1 hypothetical protein FLJ37953 FLJ22555 2q33.1 hypothetical protein FLJ22555 DNAPTP6 2q33.2 DNA polymerase-transactivated protein 6 FLJ37818 2q33.2 hypothetical protein FLJ37818 FLJ31322 2q33.2 hypothetical protein FLJ31322 TRIPIN 2q33.2 tripin AOX1 2q33 aldehyde oxidase 1 AOX2 2q33.2 aldehyde oxidase 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2339 - 573 - Steptoe
    12 - 2319 - 573 - Steptoe
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Endocrineadrenal gland   highly
    Nervousnerve   highly
    Reproductivemale systemprostate  moderately
    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     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    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
  • 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)
  • 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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS