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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046018
UUCD1 version UUC-HoS-00363
Ensembl Protein ID ENSP00000476795.1
UniProt Accession Q9H2C0; GAN_HUMAN
Genbank Protein ID AAG35311.1; AAH44840.1
Protein Name Gigaxonin; Kelch-like protein 16
Genbank Nucleotide ID AF291673; BC044840
Gene Name GAN; GAN1; KLHL16
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000261609.4 ENST00000568107.2 ENSP00000476795.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
ArrayExpressTCGAICGCCOSMIC
THPAHPM
DNA & RNA Element
UTRdbcircBasecircRNADbCircNet
TRANSFACTargetScanRepTarSomamiR
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexHINTMentha
InWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMPHOSIDAmUbiSiDa
DNA Methylation
TCGAICGC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 adaptor/Cullin RING/BCR/BTB_3-box BTB_3-box 15983046; 15071497; 16227972; 18680552
Classification
Family E-value Score Start End
E3 adaptor/Cullin RING/BCR/BTB_3-box: BTB 5.70e-11 44.3 30 99
E3 adaptor/Cullin RING/BCR/BTB_3-box: 3-box 5.20e-08 32.1 132 162
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/BCR/BTB_3-box: BTB
   S: 1    aDvilvvggeeffahkivLaasSsvFyalflmele.esksklmveikdvqpevfrallkFlYtgkldene 69
           +D  lv++gee++++k +Laa+S++ +  ++ + + +  s+ ++e+++++  v+r++l+++ +g++++ne
   Q: 30   CDAHLVLDGEEIPVQKNILAAASPYIRTKLNYNPPkDDGSTYKIELEGISVMVMREILDYIFSGQIRLNE 99
           899***************************888884666666666668*******************997 PP
   

   E3 adaptor/Cullin RING/BCR/BTB_3-box: 3-box
   S: 2    eNclgilrfAdlydcpdLkdaaldfilkhFk 32
           eNc+gi++fA +y++++++  a +++++hF+
   Q: 132  ENCIGIRDFALHYCLHHVHYLATEYLETHFR 162
           9*****************************7 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     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.
 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.
Protein Sequence
(Fasta)
MAEGSAVSDP QHAARLLRAL SSFREESRFC DAHLVLDGEE IPVQKNILAA ASPYIRTKLN 60
YNPPKDDGST YKIELEGISV MVMREILDYI FSGQIRLNED TIQDVVQAAD LLLLTDLKTL 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046018|E3,BTB_3-box|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AGCGCGCCGC GGATAGCACA GGCACGTCCC GGGGGCTCCA GCTTCTGCTC AGAGCGCGGA 60
GAGCCGGGCC GGGCGGGCGC GCGCGCAGGA CTCGGGCCGC TCGAGGGGTC CGGCCGGACG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046018|E3,BTB_3-box|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0225--Disease mutation
KW-0880--Kelch repeat
KW-0523--Neurodegeneration
KW-0622--Neuropathy
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0832--Ubl conjugation
KW-0833--Ubl conjugation pathway
Interpro

IPR011705--BACK
IPR017096--BTB-kelch_protein
IPR000210--BTB/POZ_dom
IPR015915--Kelch-typ_b-propeller
IPR006652--Kelch_1
IPR030579--KLHL16
IPR011333--SKP1/BTB/POZ
PROSITE

PS50097--BTB
Pfam

PF07707--BACK
PF00651--BTB
PF01344--Kelch_1
SMART

SM00875--BACK
SM00225--BTB
SM00612--Kelch
Gene Ontology

GO:0031463--C:Cul3-RING ubiquitin ligase complex
GO:0005737--C:cytoplasm
GO:0005856--C:cytoskeleton
GO:0007010--P:cytoskeleton organization
GO:0016567--P:protein ubiquitination
KEGG hsa:8139
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002164 Ailuropoda melanoleuca 98.35 0.00e+00 1075.00
IUUC-Apl-004132 Anas platyrhynchos 91.22 0.00e+00 1011.00
IUUC-Aca-005264 Anolis carolinensis 90.25 0.00e+00 1090.00
IUUC-Ame-011222 Astyanax mexicanus 69.52 0.00e+00 702.00
IUUC-Bta-012855 Bos taurus 98.49 0.00e+00 1176.00
IUUC-Cja-019865 Callithrix jacchus 98.99 0.00e+00 1180.00
IUUC-Cfa-020864 Canis familiaris 99.16 0.00e+00 1185.00
IUUC-Cpo-021500 Cavia porcellus 98.32 0.00e+00 1172.00
IUUC-Csa-023114 Chlorocebus sabaeus 100.00 0.00e+00 1194.00
IUUC-Cho-024996 Choloepus hoffmanni 98.52 0.00e+00 1063.00
IUUC-Dre-028758 Danio rerio 68.71 1.00e-180 626.00
IUUC-Dno-029380 Dasypus novemcinctus 98.82 0.00e+00 1167.00
IUUC-Dor-030704 Dipodomys ordii 98.45 0.00e+00 774.00
IUUC-Ete-032632 Echinops telfairi 97.49 0.00e+00 1162.00
IUUC-Eca-034092 Equus caballus 98.72 0.00e+00 1076.00
IUUC-Eeu-034482 Erinaceus europaeus 92.99 0.00e+00 1088.00
IUUC-Fca-035706 Felis catus 98.72 0.00e+00 1074.00
IUUC-Fal-037414 Ficedula albicollis 91.65 0.00e+00 957.00
IUUC-Gmo-039716 Gadus morhua 68.02 0.00e+00 859.00
IUUC-Gga-040801 Gallus gallus 91.62 0.00e+00 1108.00
IUUC-Gac-042023 Gasterosteus aculeatus 67.62 0.00e+00 865.00
IUUC-Ggo-045209 Gorilla gorilla 99.63 0.00e+00 1087.00
IUUC-Itr-048003 Ictidomys tridecemlineatus 99.11 0.00e+00 904.00
IUUC-Lch-050253 Latimeria chalumnae 82.21 0.00e+00 988.00
IUUC-Loc-052224 Lepisosteus oculatus 80.68 0.00e+00 968.00
IUUC-Laf-054497 Loxodonta africana 98.15 0.00e+00 1165.00
IUUC-Mcc-055363 Macaca mulatta 100.00 0.00e+00 1194.00
IUUC-Meu-056415 Macropus eugenii 88.27 0.00e+00 1038.00
IUUC-Mga-059506 Meleagris gallopavo 91.53 0.00e+00 1010.00
IUUC-Mmr-060695 Microcebus murinus 99.16 0.00e+00 1184.00
IUUC-Mdo-062539 Monodelphis domestica 95.48 0.00e+00 1149.00
IUUC-Mmu-063833 Mus musculus 98.32 0.00e+00 1177.00
IUUC-Mpu-066163 Mustela putorius furo 99.00 0.00e+00 1181.00
IUUC-Mlu-067351 Myotis lucifugus 99.16 0.00e+00 1185.00
IUUC-Nle-069432 Nomascus leucogenys 99.83 0.00e+00 1192.00
IUUC-Opr-070941 Ochotona princeps 88.54 0.00e+00 929.00
IUUC-Ont-072620 Oreochromis niloticus 69.70 0.00e+00 891.00
IUUC-Oan-073408 Ornithorhynchus anatinus 94.20 1.00e-148 518.00
IUUC-Ocu-074067 Oryctolagus cuniculus 98.32 0.00e+00 1174.00
IUUC-Ola-087263 Oryzias latipes 67.85 0.00e+00 858.00
IUUC-Oga-088387 Otolemur garnettii 98.50 0.00e+00 1179.00
IUUC-Oar-089890 Ovis aries 97.62 0.00e+00 1059.00
IUUC-Ptr-090867 Pan troglodytes 100.00 0.00e+00 1080.00
IUUC-Pan-092790 Papio anubis 99.63 0.00e+00 1087.00
IUUC-Psi-093381 Pelodiscus sinensis 92.04 0.00e+00 923.00
IUUC-Pma-094681 Petromyzon marinus 67.26 6.00e-157 547.00
IUUC-Pfo-096446 Poecilia formosa 67.85 0.00e+00 874.00
IUUC-Pab-097839 Pongo abelii 100.00 0.00e+00 1193.00
IUUC-Pca-101042 Procavia capensis 81.75 1.00e-121 429.00
IUUC-Pva-102911 Pteropus vampyrus 99.33 0.00e+00 1185.00
IUUC-Rno-105073 Rattus norvegicus 96.85 0.00e+00 1167.00
IUUC-Sha-107321 Sarcophilus harrisii 94.30 0.00e+00 1165.00
IUUC-Sar-113417 Sorex araneus 87.80 0.00e+00 920.00
IUUC-Ssc-115450 Sus scrofa 98.66 0.00e+00 1180.00
IUUC-Tgu-117089 Taeniopygia guttata 91.25 0.00e+00 1090.00
IUUC-Tru-118452 Takifugu rubripes 65.14 0.00e+00 822.00
IUUC-Tsy-119125 Tarsius syrichta 93.60 0.00e+00 892.00
IUUC-Tni-120845 Tetraodon nigroviridis 64.55 0.00e+00 817.00
IUUC-Tbe-127688 Tupaia belangeri 69.18 1.00e-113 403.00
IUUC-Ttr-128621 Tursiops truncatus 98.26 0.00e+00 918.00
IUUC-Vpa-130159 Vicugna pacos 99.35 0.00e+00 626.00
IUUC-Xtr-132635 Xenopus tropicalis 84.06 0.00e+00 999.00
Created Date 25-Jun-2017

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