Harmonizome 3.0

heat shock 60kDa protein 1 (chaperonin)

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. [provided by RefSeq, Jun 2010]

heat shock 60kDa protein 1 (chaperonin) pseudogene

heat shock 60kDa protein 1 (chaperonin) pseudogene 17

heat shock 60kDa protein 1 (chaperonin) pseudogene 16

heat shock 60kDa protein 1 (chaperonin) pseudogene 15

heat shock 60kDa protein 1 (chaperonin) pseudogene 14

heat shock 60kDa protein 1 (chaperonin) pseudogene 13

heat shock 60kDa protein 1 (chaperonin) pseudogene 12

heat shock 60kDa protein 1 (chaperonin) pseudogene 11

heat shock 60kDa protein 1 (chaperonin) pseudogene 10

heat shock 60kDa protein 1 (chaperonin) pseudogene 19

heat shock 60kDa protein 1 (chaperonin) pseudogene 18

ClpB homolog, mitochondrial AAA ATPase chaperonin

This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

heat shock 60kDa protein 1 (chaperonin) pseudogene 3

heat shock 60kDa protein 1 (chaperonin) pseudogene 2

heat shock 60kDa protein 1 (chaperonin) pseudogene 1

heat shock 60kDa protein 1 (chaperonin) pseudogene 7

heat shock 60kDa protein 1 (chaperonin) pseudogene 6

heat shock 60kDa protein 1 (chaperonin) pseudogene 5

heat shock 60kDa protein 1 (chaperonin) pseudogene 4

heat shock 60kDa protein 1 (chaperonin) pseudogene 9

heat shock 60kDa protein 1 (chaperonin) pseudogene 8

heat shock 60kDa protein 1 (chaperonin) pseudogene 22

heat shock 60kDa protein 1 (chaperonin) pseudogene 20

heat shock 60kDa protein 1 (chaperonin) pseudogene 21