This 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 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. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13.
Full Name
heat shock protein family D (Hsp60) member 1
Function
Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:1346131, PubMed:11422376).
The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).
Biological Process
de novo' protein folding Source: BHF-UCL Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: BHF-UCL Apoptotic mitochondrial changes Source: GO_Central B cell activation Source: BHF-UCL B cell proliferation Source: BHF-UCL Biological process involved in interaction with symbiont Source: CAFA Chaperone-mediated protein complex assembly Source: BHF-UCL Isotype switching to IgG isotypes Source: BHF-UCL Mitochondrial unfolded protein response Source: GO_Central MyD88-dependent toll-like receptor signaling pathway Source: BHF-UCL Negative regulation of apoptotic process Source: UniProtKB Positive regulation of apoptotic process Source: BHF-UCL Positive regulation of interferon-alpha production Source: BHF-UCL Positive regulation of interferon-gamma production Source: BHF-UCL Positive regulation of interleukin-10 production Source: BHF-UCL Positive regulation of interleukin-12 production Source: BHF-UCL Positive regulation of interleukin-6 production Source: BHF-UCL Positive regulation of macrophage activation Source: BHF-UCL Positive regulation of T cell activation Source: BHF-UCL Positive regulation of T cell mediated immune response to tumor cell Source: BHF-UCL Protein folding Source: GO_Central Protein import into mitochondrial intermembrane space Source: GO_Central Protein maturation Source: BHF-UCL Protein refolding Source: UniProtKB Protein stabilization Source: UniProtKB Response to cold Source: AgBase Response to unfolded protein Source: BHF-UCL T cell activation Source: MGI
Cellular Location
Mitochondrion matrix
Involvement in disease
Spastic paraplegia 13, autosomal dominant (SPG13): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Leukodystrophy, hypomyelinating, 4 (HLD4): 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 occurs within the first two decades of life.
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