gigaxonin; kelch-like protein 16 (GAN, GAN1, KLHL16)

Function

• probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture
• substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination & subsequent proteasomal degradation of target proteins
• controls degradation of TBCB
• controls degradation of MAP1B & MAP1S, & is critical for neuronal maintenance & survival
• protein modification; protein ubiquitination
• ubiquitinated & probably targeted for proteasome-independent degradation
• interacts with TBCB
• interacts with CUL3
• part of a complex that contains CUL3, RBX1 & GAN
• interacts (via BTB domain) with UBA1
• interacts (via kelch domains) with MAP1B (via C-terminus) & MAP1S (via C-terminus)

Structure

• contains 1 BACK (BTB/kelch associated) domain
• contains 1 BTB/POZ domain
• contains 6 kelch repeats

Compartment

cytoplasm, cytoskeleton

Expression

expressed in brain, heart & muscle

Pathology

• defects in GAN are the cause of giant axonal neuropathy

More general terms

• kelch-like protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8139
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8139
• OMIM: https://mirror.omim.org/entry/256850
• OMIM: https://mirror.omim.org/entry/605379
• UniProt: http://www.uniprot.org/uniprot/Q9H2C0.html