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gigaxonin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

8139

PubChem

8139

Alliance of Genome Resources

HGNC:4137

Annotation

Keyword

3D-structure
Cytoskeleton
Disease variant
Kelch repeat
Neurodegeneration
Neuropathy
Proteomics identification
Reference proteome
Repeat
Ubl conjugation
Ubl conjugation pathway

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A0S2Z4W2
B3KTC3
Q9H2C0	Kelch-like protein 16

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
cytoskeleton organization	IEA
protein ubiquitination	IDA	15983046
protein ubiquitination	IEA
proteasome-mediated ubiquitin-dependent protein catabolic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

macromolecule modification [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

proteasome-mediated ubiquitin-dependent protein catabolic process

cellular process [inference]

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
cytoplasm	IDA	19424503
cytoplasm	IBA
cytosol	TAS
cytoskeleton	IEA
Cul3-RING ubiquitin ligase complex	IDA	15983046

GO Hierarchy

cellular component

protein-containing complex [inference]

intracellular protein-containing complex [inference]

ubiquitin ligase complex [inference]

cullin-RING ubiquitin ligase complex [inference]

Cul3-RING ubiquitin ligase complex

catalytic complex [inference]

transferase complex [inference]

ubiquitin ligase complex [inference]

cullin-RING ubiquitin ligase complex [inference]

Cul3-RING ubiquitin ligase complex

cellular anatomical entity [inference]

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	12147674 15778465 16227972 16303566 25036637 28514442 32814053 33961781 36931259
ubiquitin ligase-substrate adaptor activity	IBA

GO Hierarchy

molecular function

binding [inference]

protein binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity [inference]

enzyme-substrate adaptor activity [inference]

ubiquitin ligase-substrate adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

isoform a

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 6** entries
InterPro
BTB-kelch protein
BTB/Kelch-associated
BTB/POZ domain
Kelch repeat type 1
Kelch-type beta propeller
SKP1/BTB/POZ domain superfamily

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0090068	giant axonal neuropathy 1	Alliance of Genome Resources

Ortholog

Displaying entries **51 - 60** of 98 in total

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Species	Gene ID	Orthologous MAtrix
Nannospalax galili	103732126	NANGA25352
Serinus canaria	103816728	SERCA09957
Rhinopithecus roxellana	104671626	RHIRO19099
Esox lucius	105018578	ESOLU55825
Esox lucius	105018579	ESOLU55825
Pteropus vampyrus	105289835	PTEVA07417
Macaca nemestrina	105491209	MACNE07511
Mandrillus leucophaeus	105546818	MANLE03359
Cercocebus atys	105598762	CERAT00882
Aotus nancymaae	105726500	AOTNA12778