HSPD1 Back

heat shock 60kDa protein 1 (chaperonin)

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NCBI Description of HSPD1

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.

Community Annotation of HSPD1 Add / Edit HSPD1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HSPD1 is highly significantly mutated in
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HSPD1 is significantly mutated in
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HSPD1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for HSPD1