GAN
entrez
8139
canonical
uniprot
Q9H2C0
canonical
ensembl
ENSG00000261609
resolver
ensp
ENSP00000497351
resolver
ensp
ENSP00000520738
resolver
enst
ENST00000648994
resolver
enst
ENST00000718305
resolver
genesymbol
GAN
resolver
genesymbol_syn
GAN1
resolver
genesymbol_syn
KLHL16
resolver
hgnc
HGNC:4137
resolver
uniprot
A0A0S2Z4W2
resolver
uniprot
B3KTC3
resolver
uniprot_entry
A0A0S2Z4W2_HUMAN
resolver
uniprot_entry
B3KTC3_HUMAN
resolver
uniprot_entry
GAN_HUMAN
resolver
amino_acid_sequence
MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLNYNPPKDDGSTYKIELEGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDFALHYCLHHVHYLATEYLETHFRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDTEIRKVHMKDVMSALWVSGLDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGGEERVSRKPTAAMRCMCPLYDPNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPDANTWTALPPMNEARHNFGIVEIDGMLYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMKKKIYAMGGGSYGKLFESVECYDPRTQQWTAICPLKERRFGAVACGVAMELYVFGGVRSREDAQGSEMVTCKSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPIGASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPLLPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP
uniprot
proteins
disease_involvement
DISEASE: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]: A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. {ECO:0000269|PubMed:11062483, ECO:0000269|PubMed:11971098, ECO:0000269|PubMed:12655563, ECO:0000269|PubMed:16303566, ECO:0000269|PubMed:17578852, ECO:0000269|PubMed:17587580}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival. {ECO:0000269|PubMed:12147674, ECO:0000269|PubMed:15983046, ECO:0000269|PubMed:16227972, ECO:0000269|PubMed:16303566}.
uniprot
proteins
mass_dalton
67638
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. {ECO:0000269|PubMed:15983046}.
uniprot
proteins
pubmed
11062483
uniprot
proteins
pubmed
11971098
uniprot
proteins
pubmed
12147674
uniprot
proteins
pubmed
12655563
uniprot
proteins
pubmed
14528312
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15983046
uniprot
proteins
pubmed
16227972
uniprot
proteins
pubmed
16303566
uniprot
proteins
pubmed
17578852
uniprot
proteins
pubmed
17587580
uniprot
proteins
pubmed
19424503
uniprot
proteins
pubmed
19818708
uniprot
proteins
pubmed
24627108
uniprot
proteins
sequence_length
597
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton.
uniprot
proteins