The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin.
Identification of seven novel mutations in the GAN gene.
Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer.
Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway.
Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.
Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level.
Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases.
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways.
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.
Architecture of the human interactome defines protein communities and disease networks.
Cullin 3-Based Ubiquitin Ligases as Master Regulators of Mammalian Cell Differentiation.
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
A central chaperone-like role for 14-3-3 proteins in human cells.
Gigaxonin is required for intermediate filament transport.
The CRL3(gigaxonin) ubiquitin ligase-USP15 pathway governs the destruction of neurofilament proteins.
Multimodal cell maps as a foundation for structural and functional genomics.
The Kelch 3 motif on gigaxonin mediates the interaction with NUDCD3 and regulates vimentin filament morphology.
Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
NEDD8:AcM-UBE2M binds CRL3 E3 ubiquitin ligase complex
AcM-UBE2M transfers NEDD8 to CRL3 E3 ubiquitin ligase complex
CAND1 binds cytosolic CRL E3 ubiquitin ligases
COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
Antigen processing: Ubiquitination & Proteasome degradation
UniProtKB Q9H2C0 (GAN_HUMAN)