KEGG   Homo sapiens (human): 8139
Entry
8139              CDS       T01001                                 
Symbol
GAN, GAN1, GIG, KLHL16
Name
(RefSeq) gigaxonin isoform 1
  KO
K10453  kelch-like protein 16 (gigaxonin)
Organism
hsa  Homo sapiens (human)
Network
nt06541  Cytoskeleton in neurons
  Element
N01855  Neurofilament regulation, ubiqutination by Gigaxonin
Disease
H01259  Giant axonal neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    8139 (GAN)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit type E3
   Cul3 complex
    Adoptor and target recognizing subunit (BTB)
     8139 (GAN)
SSDB
Motif
Pfam: Kelch_1 BACK Kelch_KLHDC2_KLHL20_DRC7 Beta-prop_Calicin BTB Kelch_FKB95 Beta-prop_ATRN-LZTR1 Beta-prop_FBX42 Kelch_2 NANM DUF6242_C BTB_KLHL33 BTB_3
Other DBs
NCBI-GeneID: 8139
NCBI-ProteinID: NP_071324
OMIM: 605379
HGNC: 4137
Ensembl: ENSP00000497351.1
UniProt: Q9H2C0 A0A0S2Z4W2 B3KTC3
Structure
LinkDB
Position
16:81314962..81390809
AA seq 597 aa
MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLN
YNPPKDDGSTYKIELEGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTL
CCEFLEGCIAAENCIGIRDFALHYCLHHVHYLATEYLETHFRDVSSTEEFLELSPQKLKE
VISLEKLNVGNERYVFEAVIRWIAHDTEIRKVHMKDVMSALWVSGLDSSYLREQMLNEPL
VREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGGEERVSRKPTAAMRCMCPLYD
PNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPDANTWTALPPM
NEARHNFGIVEIDGMLYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMK
KKIYAMGGGSYGKLFESVECYDPRTQQWTAICPLKERRFGAVACGVAMELYVFGGVRSRE
DAQGSEMVTCKSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPIGASIYVIGDLDTGTN
YDYVREFKRSTGTWHHTKPLLPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP
NT seq 1794 nt   +upstreamnt  +downstreamnt
atggctgagggcagtgccgtgtctgaccctcagcacgccgcgcgtctgctgcgagcgctc
agctctttccgcgaggagtctcgcttctgcgacgcgcacctggtcctcgacggggaggag
atcccggtgcagaagaacatcctggcggcggccagcccgtacatcaggacaaagttaaac
tataatcctccaaaagatgatggatcaacttataagattgaacttgaagggatatcggta
atggttatgagagagatcctggattacatcttcagtgggcagatcaggctaaatgaagat
acaatccaagatgttgttcaggcagctgacctgctgctactgacggaccttaaaaccctg
tgctgtgagtttttggaaggctgcattgctgctgagaactgtattggtatccgtgacttt
gcactacattactgcctccatcacgttcattaccttgccacagaatacctggagactcat
ttccgagacgtcagcagcacggaagaattcttagagctgagtcctcaaaagcttaaagaa
gtgatttctcttgagaagttaaacgttggcaatgaaagatatgtctttgaagcagtaatt
cgatggatagcacatgatacagaaataagaaaggtccacatgaaggatgttatgtcagct
ctgtgggtttcagggttggactccagttatttacgggaacagatgctgaatgaaccatta
gtacgagaaattgtcaaagagtgtagcaatataccgctcagccagccgcagcaaggggag
gcgatgctggccaacttcaaaccccggggctactctgagtgcatcgtgactgttggtgga
gaagagagagtttcacggaaacccacagcagcgatgcgatgcatgtgccctctctatgac
cctaacaggcagctttggatcgaactggcccctttaagcatgccgagaattaaccatgga
gttctctcagcagaaggatttttgtttgtattcgggggccaagatgaaaataagcagact
cttagctcaggagaaaagtatgatccagatgcaaatacatggacagcattgccacctatg
aacgaggcaagacataacttcggaattgtggagatagatgggatgctgtacattttggga
ggagaggatggtgaaaaggagctgatttccatggagtgttacgatatttattctaaaacc
tggacaaagcaacctgatttgaccatggtcagaaagatcggctgctatgcagctatgaaa
aagaaaatctacgccatgggtggaggctcctacggaaagctttttgagtctgtagagtgt
tatgatcccaggacccagcagtggactgccatatgtccactaaaagagaggaggtttgga
gcggtggcctgtggagttgctatggagctgtatgtgtttgggggagtccgaagtcgtgag
gacgcccagggtagcgagatggtaacttgcaagtccgagttctaccatgatgagtttaaa
aggtggatctatcttaacgaccagaatttatgcatccccgccagttcctcttttgtttat
ggagctgtacctataggagccagtatttatgttattggagatcttgatacaggtaccaat
tacgactacgtgcgtgagtttaaaagaagcacaggaacctggcaccacactaaaccactc
cttccatccgaccttcgccgtacaggatgtgcagccttacgcattgcgaattgcaagctt
ttccgcctgcagcttcagcaaggcttattccgtattcgtgttcattccccttga

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