HSP60

HSP60, also known as HSPD1, is a member of the chaperonin family. HSP60 may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. It may also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. HSP60 gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13.Defects in HSP60 are a cause of spastic paraplegia autosomal dominant type 13 (SPG13). Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Defects in HSP60 are the cause of leukodystrophy hypomyelinating type 4 (HLD4); also called mitochondrial HSP60 chaperonopathy or MitCHAP-60 disease. HLD4 is a severe autosomal recessive hypomyelinating leukodystrophy. HSP60 is cinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurrs within the first two decades of life.

HSP60 Related Areas

Cancer>>Apoptosis>>Heat-Shock Protein>>HSPD1/HSP60

HSP60 Alternative Names

HSPD1, HSP60, CPN60, GROEL, HLD4, HSP65, HuCHA60, SPG13 [Homo sapiens]

Hspd1, Hsp60, 60kDa [Mus musculus]

Summaries for HSP60

Entrez Gene summary for HSP60:

HSPD1 gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This HSP60 is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with HSPD1 gene. Two transcript variants encoding the same protein have been identified for HSPD1 gene. Mutations associated with HSPD1 gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]

OMIM - description for HSP60:

It had long been assumed that all information necessary for proper folding of proteins and their assembly into oligomeric complexes was contained within the primary sequence of the polypeptides and that no catalyst or other accessory proteins were involved in this process. However, this basic tenet of biochemistry was challenged by the discovery of chaperonins, which are involved in the folding and assembly of a number of different proteins (Cheng et al., 1989; Ellis, 1990; Rothman, 1989). Members of the chaperonin family include the GroEL protein of E. coli and HSP60, a protein present in eukaryotic cell mitochondria. In both prokaryotic and eukaryotic systems, synthesis of these proteins is induced in response to stresses, such as heat shock (Venner et al., 1990).

Wikipedia summary for HSP60:

Heat shock proteins are generally responsible for preventing damage to proteins in response to high levels of heat. Heat shock proteins are classified into six major families based on their molecular mass: small HSPs, HSP40, HSP60, HSP70, HSP90, and HSP110.

Heat shock protein 60 (HSP60) is a mitochondrial chaperonin that is typically held responsible for the transportation and refolding of proteins from the cytoplasm into the mitochondrial matrix. In addition to its role as a heat shock protein, HSP60 functions as a chaperonin to assist in folding linear amino acid chains into their respective three-dimensional structure. Through the extensive study of groEL, HSP60's bacterial homolog, HSP60 has been deemed essential in the synthesis and transportation of essential mitochondrial proteins from the cell's cytoplasm into the mitochondrial matrix. Further studies have linked HSP60 to diabetes, stress response, cancer and certain types of immunological disorders.

Human HSP60 Protein General Information

 

• Protein names: Heat shock protein 60 , Short name=HSP-60 , Short name=Hsp60
• Sequence length: 573 AA.
• Domain: Transit peptide
• Sequence similarities: Belongs to the chaperonin (HSP60) family.
• Subunit structure: Interacts with HRAS By similarity. Interacts with HBV protein X and HTLV-1 protein p40tax.
• Subcellular location: Mitochondrion matrix.
• Involvement in disease: Defects in HSPD1 are a cause of spastic paraplegia autosomal dominant type 13 (SPG13) . Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Ref.26 Defects in HSPD1 are the cause of leukodystrophy hypomyelinating type 4 (HLD4) ; also called mitochondrial HSP60 chaperonopathy or MitCHAP-60 disease. HLD4 is a severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurrs within the first two decades of life.

General information above from UniProt

Function for HSP60 Protein

UniProtKB:

HSP60 is implicated in mitochondrial protein import and macromolecular assembly. HSP60 May facilitate the correct folding of imported proteins. HSP60 May also prevent misfolding and promote the refolding and proper assembly of rix.unfolded polypeptides generated under stress conditions in the mitochondrial mat

Genatlas:

• HSP60 is involved in mitochondrial protein import and macromolecular assembly
• HSP60 is molecular chaperone involved in folding and quality control of mitochondrial proteins (Hansen 2007)
• HSP60 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)
• HSP60 stimulates the best known TREM2-dependent process, phagocytosis

Homology for human HSP60

• homolog to murine Hsp60

Phenotype Information for HSP60

• Gene/Locus: HSPD1, SPG13, HSP60, HLD4
• Phenotype: Leukodystrophy, hypomyelinating, 4
  Spastic paraplegia-13

Phenotype Information for HSP60 from OMIM (Online Mendelian Inheritance in Man)