• HOME
  • BROWSE
  • SEARCH
  • LINK
  • DOWNLOAD
  • USER GUIDE
  • Protein
  • Gene
  • Annotation
  • Details
  • Classification
  • Domain Profile
  • Function
  • Protein Sequence
  • Nucleotide Sequence
  • Keyword
  • GO
  • Orthology
  • TOP

Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046591
UUCD1 version UUC-HoS-01096
Ensembl Protein ID ENSP00000437157.1
UniProt Accession P54252; A7LFZ5; D6RDL9; E9PB63; O15284; O15285; O15286; Q8N189; Q96TC3; Q96TC4; Q9H3N0; ATX3_HUMAN
Genbank Protein ID AAB33571.1; AAB63352.1; AAB63353.1; AAB63354.1; BAB18798.1; BAB55645.1; BAB55646.1; ABS29269.1; EAW81472.1; AAH33711.1
Protein Name Ataxin-3; Machado-Joseph disease protein 1; Spinocerebellar ataxia type 3 protein
Genbank Nucleotide ID S75313; U64820; U64821; U64822; AB050194; AB038653; AB038653; EU009923; AL049872; BC033711
Gene Name ATXN3; ATX3; MJD; MJD1; SCA3
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000066427.21 ENST00000558190.5 ENSP00000478320.1
ENSG00000066427.21 ENST00000359366.9 ENSP00000352324.5
ENSG00000066427.21 ENST00000503767.5 ENSP00000426697.1
ENSG00000066427.21 ENST00000340660.10 ENSP00000339110.6
ENSG00000066427.21 ENST00000532032.5 ENSP00000437157.1
ENSG00000066427.21 ENST00000554592.5 ENSP00000451385.1
ENSG00000066427.21 ENST00000556315.5 ENSP00000451132.1
ENSG00000066427.21 ENST00000554672.5 ENSP00000451417.1
ENSG00000066427.21 ENST00000557030.5 ENSP00000452139.1
ENSG00000066427.21 ENST00000556958.5 ENSP00000452532.1
ENSG00000066427.21 ENST00000556374.5 ENSP00000451399.1
ENSG00000066427.21 ENST00000553570.5 ENSP00000451405.1
ENSG00000066427.21 ENST00000554994.5 ENSP00000451771.1
ENSG00000066427.21 ENST00000556671.5 ENSP00000451693.1
ENSG00000066427.21 ENST00000554350.5 ENSP00000451103.1
ENSG00000066427.21 ENST00000556220.5 ENSP00000450641.1
ENSG00000066427.21 ENST00000554673.5 ENSP00000452356.1
ENSG00000066427.21 ENST00000506466.5 ENSP00000435571.1
ENSG00000066427.21 ENST00000526872.2 ENSP00000474067.1
ENSG00000066427.21 ENST00000429774.6 ENSP00000389376.3
ENSG00000066427.21 ENST00000620536.4 ENSP00000484016.1
ENSG00000066427.21 ENST00000545170.5 ENSP00000445618.2
ENSG00000066427.21 ENST00000621269.4 ENSP00000481390.1
ENSG00000066427.21 ENST00000393287.9 ENSP00000376965.6
ENSG00000066427.21 ENST00000617719.4 ENSP00000481998.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtBioGRID
mUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/Other/Other UBD/Other/Other 15265035; 16118278
UBD/Alpha-Helix/UIM UIM 24063750
DUB/Josephin Josephin 20940148; 21245847; 18599482
Classification
Family E-value Score Start End
UBD/Alpha-Helix/UIM 1.60e-05 26.0 224 242
UBD/Alpha-Helix/UIM 2.6e-05 16.2 244 260
Active Site
Position(s) Description Evidence
14 Nucleophile {ECO:0000269|PubMed:23625928}
119 Proton acceptor {ECO:0000305|PubMed:16020535,
ECO:0000305|PubMed:16118278}
134 N/A {ECO:0000305|PubMed:16020535,
ECO:0000305|PubMed:16118278}
Domain Profile

   UBD/Alpha-Helix/UIM

   S: 1    dEdeeLqlAlalSlqEeee 19
    +++e+Lq+AlalS+qE ++
   Q: 224 EDEEDLQRALALSRQEIDM 242
    69**************886 PP
   


   UBD/Alpha-Helix/UIM

   S: 1    dEdeeLqlAlalSlqEe 17
    dE+++L++A++lS+q
   Q: 244 DEEADLRRAIQLSMQGS 260
    7*************976 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription.
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription.
Protein Sequence
(Fasta)
MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE GGVTSEDYRT 60
FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ RLRIDPINER SFICNYKEHW 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046591|UBD,UBD/Other/Other;UBD,UIM;DUB,Josephin|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
GAGAGGGGCA GGGGGCGGAG CTGGAGGGGG TGGTTCGGCG TGGGGGCCGT TGGCTCCAGA 60
CAAATAAACA TGGAGTCCAT CTTCCACGAG AAAGTGAGTG TCCGCGTTCG GTGGGGAGCT 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046591|UBD,UBD/Other/Other;UBD,UIM;DUB,Josephin|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0378--Hydrolase
KW-1017--Isopeptide bond
KW-0523--Neurodegeneration
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-0645--Protease
KW-1185--Reference proteome
KW-0677--Repeat
KW-0950--Spinocerebellar ataxia
KW-0788--Thiol protease
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0818--Triplet repeat expansion
KW-0832--Ubl conjugation
KW-0833--Ubl conjugation pathway

Interpro

IPR033865--Ataxin-3
IPR006155--Josephin
IPR011990--TPR-like_helical_dom
IPR003903--UIM_dom

PROSITE

PS50957--JOSEPHIN
PS50330--UIM

Pfam

PF02099--Josephin
PF02809--UIM

SMART

SM01246--Josephin
SM00726--UIM

Gene Ontology

GO:0005737--C:cytoplasm
GO:0005829--C:cytosol
GO:0005759--C:mitochondrial matrix
GO:0031966--C:mitochondrial membrane
GO:0042405--C:nuclear inclusion body
GO:0016363--C:nuclear matrix
GO:0005730--C:nucleolus
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0005886--C:plasma membrane
GO:0051117--F:ATPase binding
GO:0042802--F:identical protein binding
GO:1990380--F:Lys48-specific deubiquitinase activity
GO:0061578--F:Lys63-specific deubiquitinase activity
GO:0004843--F:thiol-dependent ubiquitin-specific protease activity
GO:0036459--F:thiol-dependent ubiquitinyl hydrolase activity
GO:0031625--F:ubiquitin protein ligase binding
GO:0030036--P:actin cytoskeleton organization
GO:0034605--P:cellular response to heat
GO:0071218--P:cellular response to misfolded protein
GO:0007268--P:chemical synaptic transmission
GO:0045104--P:intermediate filament cytoskeleton organization
GO:0000226--P:microtubule cytoskeleton organization
GO:0006515--P:misfolded or incompletely synthesized protein catabolic process
GO:0035520--P:monoubiquitinated protein deubiquitination
GO:0007399--P:nervous system development
GO:0006289--P:nucleotide-excision repair
GO:1904294--P:positive regulation of ERAD pathway
GO:0043161--P:proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0016579--P:protein deubiquitination
GO:0071108--P:protein K48-linked deubiquitination
GO:0070536--P:protein K63-linked deubiquitination
GO:1904379--P:protein localization to cytosolic proteasome complex involved in ERAD pathway
GO:0010810--P:regulation of cell-substrate adhesion
GO:0006355--P:regulation of transcription, DNA-templated
GO:0006351--P:transcription, DNA-templated
GO:0006511--P:ubiquitin-dependent protein catabolic process

KEGG hsa:4287
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002015 Ailuropoda melanoleuca 90.62 1.00e-172 598.00
IUUC-Apl-003210 Anas platyrhynchos 76.12 5.00e-134 470.00
IUUC-Aca-005171 Anolis carolinensis 78.60 4.00e-115 407.00
IUUC-Aly-005625 Arabidopsis lyrata 44.64 3.00e-40 158.00
IUUC-Ath-007088 Arabidopsis thaliana 44.64 3.00e-40 158.00
IUUC-Afu-009069 Aspergillus fumigatus 30.67 1.10e-01 30.00
IUUC-Ame-010715 Astyanax mexicanus 70.93 3.00e-121 427.00
IUUC-Bta-013538 Bos taurus 81.54 8.00e-166 576.00
IUUC-Bci-013745 Botrytis cinerea 34.85 1.80e-01 31.60
IUUC-Bdi-015000 Brachypodium distachyon 42.01 2.00e-35 143.00
IUUC-Bol-015894 Brassica oleracea 44.05 1.00e-40 160.00
IUUC-Bra-018020 Brassica rapa 44.31 4.00e-41 162.00
IUUC-Cel-018121 Caenorhabditis elegans 37.12 1.00e-43 169.00
IUUC-Cja-018840 Callithrix jacchus 89.89 0.00e+00 674.00
IUUC-Cfa-021035 Canis familiaris 91.67 1.00e-175 608.00
IUUC-Cpo-021776 Cavia porcellus 85.19 3.00e-168 584.00
IUUC-Cho-024878 Choloepus hoffmanni 89.71 4.00e-169 587.00
IUUC-Cgl-026754 Colletotrichum gloeosporioides 55.56 4.20e-01 30.80
IUUC-Dre-027506 Danio rerio 69.64 2.00e-89 322.00
IUUC-Dno-029172 Dasypus novemcinctus 89.71 4.00e-173 600.00
IUUC-Dor-030900 Dipodomys ordii 80.00 2.00e-149 521.00
IUUC-Ete-033000 Echinops telfairi 66.54 6.00e-84 304.00
IUUC-Eca-034338 Equus caballus 91.76 7.00e-172 596.00
IUUC-Eeu-034585 Erinaceus europaeus 98.10 7.00e-57 214.00
IUUC-Fca-035441 Felis catus 90.07 5.00e-71 259.00
IUUC-Fal-037525 Ficedula albicollis 86.04 1.00e-127 449.00
IUUC-Gmo-039718 Gadus morhua 72.41 2.00e-111 394.00
IUUC-Gga-040774 Gallus gallus 82.45 7.00e-141 493.00
IUUC-Gac-041671 Gasterosteus aculeatus 72.76 5.00e-108 384.00
IUUC-Gma-042801 Glycine max 41.32 8.00e-37 147.00
IUUC-Ggo-044759 Gorilla gorilla 83.57 4.00e-134 470.00
IUUC-Hvu-047492 Hordeum vulgare 43.20 3.00e-34 139.00
IUUC-Itr-048851 Ictidomys tridecemlineatus 76.51 2.00e-130 457.00
IUUC-Lch-049519 Latimeria chalumnae 70.47 1.00e-109 389.00
IUUC-Lpe-050819 Leersia perrieri 43.27 3.00e-35 142.00
IUUC-Loc-051816 Lepisosteus oculatus 75.50 4.00e-129 454.00
IUUC-Laf-053784 Loxodonta africana 90.15 4.00e-173 600.00
IUUC-Mcc-055283 Macaca mulatta 94.54 0.00e+00 638.00
IUUC-Meu-056589 Macropus eugenii 87.20 4.00e-143 501.00
IUUC-Mtr-058233 Medicago truncatula 34.32 6.00e-37 148.00
IUUC-Mla-059013 Melampsora laricipopulina 39.90 1.00e-30 127.00
IUUC-Mga-059301 Meleagris gallopavo 81.13 6.00e-143 500.00
IUUC-Mmr-061038 Microcebus murinus 91.76 9.00e-177 612.00
IUUC-Mdo-062927 Monodelphis domestica 92.11 4.00e-150 524.00
IUUC-Mmu-063600 Mus musculus 87.23 2.00e-153 535.00
IUUC-Mpu-065897 Mustela putorius furo 96.11 1.00e-158 552.00
IUUC-Mlu-067543 Myotis lucifugus 95.05 1.00e-159 555.00
IUUC-Nle-069847 Nomascus leucogenys 88.51 9.00e-168 582.00
IUUC-Opr-070550 Ochotona princeps 81.47 1.00e-147 515.00
IUUC-Ont-071723 Oreochromis niloticus 69.68 2.00e-110 392.00
IUUC-Oan-073569 Ornithorhynchus anatinus 78.90 7.00e-149 520.00
IUUC-Ocu-074632 Oryctolagus cuniculus 89.81 1.00e-168 585.00
IUUC-Oba-075288 Oryza barthii 43.27 1.00e-37 150.00
IUUC-Obr-076050 Oryza brachyantha 42.69 2.00e-33 136.00
IUUC-Ogl-077174 Oryza glaberrima 43.27 1.00e-37 150.00
IUUC-Ogu-078006 Oryza glumaepatula 43.27 1.00e-37 150.00
IUUC-Oin-079278 Oryza indica 40.88 5.00e-35 141.00
IUUC-Olo-080941 Oryza longistaminata 43.27 1.00e-37 150.00
IUUC-Ome-081172 Oryza meridionalis 43.27 2.00e-37 150.00
IUUC-Oni-082239 Oryza nivara 43.27 1.00e-37 150.00
IUUC-Opu-083939 Oryza punctata 42.69 6.00e-37 147.00
IUUC-Oru-084393 Oryza rufipogon 43.27 1.00e-37 150.00
IUUC-Osa-086080 Oryza sativa 43.27 1.00e-37 150.00
IUUC-Ola-087566 Oryzias latipes 73.88 4.00e-111 394.00
IUUC-Oga-088617 Otolemur garnettii 75.00 2.00e-134 471.00
IUUC-Oar-090052 Ovis aries 84.18 2.00e-163 568.00
IUUC-Ptr-091435 Pan troglodytes 95.98 0.00e+00 647.00
IUUC-Psi-093313 Pelodiscus sinensis 88.72 4.00e-131 460.00
IUUC-Pma-094374 Petromyzon marinus 60.75 1.00e-84 306.00
IUUC-Ppa-095601 Physcomitrella patens 44.64 2.00e-44 173.00
IUUC-Pfo-097327 Poecilia formosa 70.37 1.00e-112 399.00
IUUC-Pab-098611 Pongo abelii 94.26 3.00e-152 530.00
IUUC-Pca-101022 Procavia capensis 99.11 5.00e-65 241.00
IUUC-Ppe-101545 Prunus persica 43.45 2.00e-38 152.00
IUUC-Pva-102844 Pteropus vampyrus 91.67 1.00e-175 608.00
IUUC-Rno-104896 Rattus norvegicus 84.24 3.00e-162 564.00
IUUC-Sha-107106 Sarcophilus harrisii 84.66 7.00e-158 549.00
IUUC-Sit-110477 Setaria italica 43.86 1.00e-36 147.00
IUUC-Sly-111416 Solanum lycopersicum 39.13 9.00e-18 83.60
IUUC-Stu-112227 Solanum tuberosum 32.93 3.00e-20 91.70
IUUC-Sar-113534 Sorex araneus 91.13 3.00e-145 508.00
IUUC-Sbi-114751 Sorghum bicolor 42.77 3.00e-35 142.00
IUUC-Ssc-115274 Sus scrofa 89.66 1.00e-175 608.00
IUUC-Tgu-117426 Taeniopygia guttata 84.27 4.00e-135 474.00
IUUC-Tru-118059 Takifugu rubripes 73.85 3.00e-109 387.00
IUUC-Tsy-119448 Tarsius syrichta 83.66 3.00e-88 318.00
IUUC-Tni-120681 Tetraodon nigroviridis 89.15 2.00e-61 227.00
IUUC-Tca-121442 Theobroma cacao 35.83 4.00e-40 158.00
IUUC-Tae-123969 Triticum aestivum 42.11 2.00e-32 132.00
IUUC-Tbe-127638 Tupaia belangeri 88.54 1.00e-156 545.00
IUUC-Ttr-129288 Tursiops truncatus 81.03 1.00e-149 522.00
IUUC-Vda-129976 Verticillium dahliae 42.11 9.00e-01 30.00
IUUC-Vpa-130788 Vicugna pacos 90.12 7.00e-171 593.00
IUUC-Vvi-131227 Vitis vinifera 42.51 7.00e-36 144.00
IUUC-Xtr-132147 Xenopus tropicalis 76.82 3.00e-124 437.00
IUUC-Xma-133144 Xiphophorus maculatus 70.03 3.00e-109 388.00
Created Date 25-Jun-2017

https://dev.news.makassarkota.go.id/public/pgsoft-demo/ https://jdih.sumbawabaratkab.go.id/lato/pg-soft-demo/ https://dev.news.makassarkota.go.id/public/slot-gacor/ http://pbb.tanahbumbukab.go.id/-/slot-gacor/ slot gacor https://siakad.unipra.ac.id/sass/slot-gacor-x500/ http://kpm.dinus.ac.id/assets/images/berita/slot/
Copyright © 2004-2017.The CUCKOO Workgroup. All Rights Reserved