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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
General
kelch-like protein
phosphoprotein
Properties
SIZE: entity length = 597 aa
MW = 68 kD
COMPARTMENT: cytoplasm
MOTIF: Ser phosphorylation site {S8}
BTB domain {30-99}
MOTIF: Zinc finger
NAME: Zinc finger
EFFECTOR-BOUND: Zn+2
BACK {134-236}
kelch repeat {274-326}
kelch repeat {327-374}
kelch repeat {376-421}
kelch repeat {422-468}
kelch repeat {470-522}
MOTIF: Tyr phosphorylation site {Y471}
kelch repeat {528-574}
Database Correlations
OMIM correlations
UniProt Q9H2C0
PFAM correlations
Entrez Gene 8139
Kegg hsa:8139
References
- UniProt :accession Q9H2C0
- Inherited Peripheral Neuropathies Mutation DB
http://www.molgen.ua.ac.be/CMTmutations/
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/GAN