Family

Kelch-like protein, gigaxonin type (IPR017096)

Short name: Kelch-like_gigaxonin-typ

Family relationships

Description

Kelch is a 50-residue motif, named after the Drosophila mutant in which it was first identified [PMID: 8453663]. This sequence motif represents one beta-sheet blade, and several of these repeats can associate to form a beta-propeller.

This group represents kelch-like proteins of the gigaxonin type. Gigaxonin binds to the ubiquitin-activating enzyme E1 through its N-terminal BTB domain and its six C-terminal kelch repeat domain interacts directly with the light chain (LC) of microtubule-associated protein 1B (MAP1B) [PMID: 16227972, PMID: 12147674]. Giant axonal neuropathy (GAN) is a devastating sensory and motor neuropathy caused by mutations in the GAN gene, which encodes the ubiquitously expressed protein gigaxonin. Kelch proteins seem to have an important role in skeletal muscle development and diseases, and are also involved in other diseases, such as cancer and neurological disorders [PMID: 24959344].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF