Entity Details

Primary name ATX3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP54252
EntryNameATX3_HUMAN
FullNameAtaxin-3
TaxID9606
Evidenceevidence at protein level
Length361
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesATXN3

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0004843 thiol-dependent deubiquitinase
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006289 nucleotide-excision repair
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins
GO:0007268 chemical synaptic transmission
GO:0007399 nervous system development
GO:0010810 regulation of cell-substrate adhesion
GO:0016363 nuclear matrix
GO:0016579 protein deubiquitination
GO:0030036 actin cytoskeleton organization
GO:0031625 ubiquitin protein ligase binding
GO:0031966 mitochondrial membrane
GO:0034605 cellular response to heat
GO:0035520 monoubiquitinated protein deubiquitination
GO:0042405 nuclear inclusion body
GO:0042802 identical protein binding
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045104 intermediate filament cytoskeleton organization
GO:0045202 synapse
GO:0051117 ATPase binding
GO:0061578 Lys63-specific deubiquitinase activity
GO:0070536 protein K63-linked deubiquitination
GO:0071108 protein K48-linked deubiquitination
GO:0071218 cellular response to misfolded protein
GO:1904294 positive regulation of ERAD pathway
GO:1904379 protein localization to cytosolic proteasome complex involved in ERAD pathway
GO:1990380 Lys48-specific deubiquitinase activity

Subcellular Location

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Subcellular Location
Nucleus
Nucleus matrix

Domains

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DomainNameCategoryType
IPR003903 Ubiquitin interacting motifSiteConserved site
IPR006155 Josephin domainDomainDomain
IPR033865 Machado-Joseph disease proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
109150 OMIMSpinocerebellar ataxia 3 (SCA3)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

182 interactions

InteractorPartnerSourcesPublicationsLink
ATX3_HUMANUBC_HUMANBioGRID, MINT12857950 14559776 14602712 16040601 16118278 16196087 18599482 19153604 20622874 20865150 21118805 23314748 23625928 23659897 25144244 25231079 25448680 25527291 25988170 28190767 28918024 29576527 29661116 30455355 details
ATX3_HUMANPSMD7_HUMANBioGRID, HPRD, IntAct, MINT12944474 30455355 32814053 details
ATX3_HUMANTERA_HUMANBioGRID, HPRD, IntAct, MINT12944474 14749733 16525503 16822850 18199748 19175675 19843543 20414249 22970133 23383273 24100225 25231079 27762274 27851749 28180282 28275011 28939772 29540532 30455355 32814053 details
ATX3_HUMANEWS_HUMANBioGRID, HPRD, IntAct16713569 32814053 details
ATX3_HUMANRHG19_HUMANBioGRID, HPRD, IntAct16713569 32814053 details
ATX3_HUMANPHAF1_HUMANBioGRID, HPRD, IntAct16713569 32814053 details
ATX3_HUMANRD23A_HUMANBioGRID, HPRD, IntAct10915768 16712842 16713569 17935801 19013454 22970133 30455355 32296183 32814053 details
ATX3_HUMANRD23B_HUMANBioGRID, HPRD, IntAct, MINT10915768 16712842 16713569 19843543 30455355 details
ATX3_HUMANPICK1_HUMANBioGRID, HPRD, IntAct16713569 details
ATX3_HUMANATX3_HUMANBioGRID, MINT16194547 16525503 21780213 22129356 details
ATX3_HUMANUBE4B_HUMANBioGRID, MINT14749733 16525503 details
ATX3_HUMANUBQL1_HUMANBioGRID, HPRD, IntAct, MINT17082820 32814053 details
ATX3_HUMANOTUB2_HUMANBioGRID, IntAct19615732 32814053 details
ATX3_HUMANUBP13_HUMANBioGRID, IntAct19615732 32814053 details
ATX3_HUMANANXA7_HUMANBioGRID, MINT21900206 details
ATX3_HUMANCDN1A_HUMANBioGRID, MINT21900206 details
ATX3_HUMANDYN2_HUMANBioGRID, IntAct, MINT21900206 32814053 details
ATX3_HUMANGSK3B_HUMANBioGRID, MINT17434145 21900206 details
ATX3_HUMANMKNK1_HUMANBioGRID, MINT21900206 details
ATX3_HUMANKS6A1_HUMANBioGRID, MINT21900206 details
ATX3_HUMANKITH_HUMANBioGRID, MINT21900206 details
ATX3_HUMANPRKN_HUMANBioGRID, IntAct20940148 22081612 24063750 29530980 30455355 details
ATX3_HUMANBECN1_HUMANBioGRID, IntAct28445460 details
ATX3_HUMANKAPCA_HUMANIntAct32814053 details
ATX3_HUMANTGFR2_HUMANIntAct32814053 details
ATX3_HUMANTCPZ_HUMANBioGRID, IntAct30455355 32814053 details
ATX3_HUMANSOX14_HUMANIntAct32814053 details
ATX3_HUMANCASP1_HUMANHPRD, IntAct32814053 9535906 details
ATX3_HUMANPDPK1_HUMANIntAct32814053 details
ATX3_HUMANSERPH_HUMANBioGRID, IntAct29111377 32814053 details
ATX3_HUMANPOC1A_HUMANIntAct32814053 details
ATX3_HUMANTEX11_HUMANBioGRID, HPRD, IntAct16713569 32814053 details
ATX3_HUMANSPA2L_HUMANIntAct32814053 details
ATX3_HUMANRN111_HUMANIntAct32814053 details
ATX3_HUMANFX4L6_HUMANIntAct32814053 details
ATX3_HUMANTERF2_HUMANIntAct32814053 details
ATX3_HUMANCASP3_HUMANIntAct32814053 details
ATX3_HUMANPIAS1_HUMANIntAct32814053 details
ATX3_HUMANWWP1_HUMANIntAct32814053 details
ATX3_HUMANSPAG8_HUMANIntAct32814053 details
ATX3_HUMANCCD17_HUMANIntAct32814053 details
ATX3_HUMANBSCL2_HUMANIntAct32814053 details
ATX3_HUMANRBPMS_HUMANIntAct32814053 details
ATX3_HUMANSYTL5_HUMANIntAct32814053 details
ATX3_HUMANTEX19_HUMANIntAct32814053 details
ATX3_HUMANPALS1_HUMANIntAct32814053 details
ATX3_HUMANRUAS1_HUMANIntAct32814053 details
ATX3_HUMANCDKAL_HUMANIntAct32814053 details
ATX3_HUMANFL2D_HUMANIntAct32814053 details
ATX3_HUMANCREB5_HUMANIntAct32814053 details
ATX3_HUMANH31_HUMANIntAct32814053 details
ATX3_HUMANPK3CA_HUMANIntAct32814053 details
ATX3_HUMANLYAM2_HUMANIntAct32814053 details
ATX3_HUMANHYPM_HUMANIntAct32814053 details
ATX3_HUMANHMMR_HUMANIntAct32814053 details
ATX3_HUMANTBX22_HUMANIntAct32814053 details
ATX3_HUMANPARVA_HUMANIntAct32814053 details
ATX3_HUMANRASF1_HUMANIntAct32814053 details
ATX3_HUMANMET7A_HUMANIntAct32814053 details
ATX3_HUMANDCR1B_HUMANIntAct32814053 details
ATX3_HUMANAAMDC_HUMANIntAct32814053 details
ATX3_HUMANLDH6B_HUMANIntAct32814053 details
ATX3_HUMANZMAT2_HUMANIntAct32814053 details
ATX3_HUMANTLR10_HUMANIntAct32814053 details
ATX3_HUMANTELO2_HUMANIntAct32814053 details
ATX3_HUMANFEZ2_HUMANIntAct32814053 details
ATX3_HUMANDLGP2_HUMANIntAct32814053 details
ATX3_HUMANARFG3_HUMANIntAct32814053 details
ATX3_HUMANMALT1_HUMANBioGRID, IntAct29111377 32814053 details
ATX3_HUMANSTK36_HUMANIntAct32814053 details
ATX3_HUMANS52A3_HUMANIntAct32814053 details
ATX3_HUMANPATZ1_HUMANIntAct32814053 details
ATX3_HUMANZHX3_HUMANIntAct32814053 details
ATX3_HUMANASIC4_HUMANIntAct32814053 details
ATX3_HUMANRNF31_HUMANIntAct32814053 details
ATX3_HUMANHDA10_HUMANIntAct32814053 details
ATX3_HUMANMYLIP_HUMANIntAct32814053 details
ATX3_HUMANNUP43_HUMANIntAct32814053 details
ATX3_HUMANVP37A_HUMANIntAct32814053 details
ATX3_HUMANZN366_HUMANIntAct32814053 details
ATX3_HUMANCG031_HUMANIntAct32814053 details
ATX3_HUMANCRLF3_HUMANIntAct32814053 details
ATX3_HUMANATL4_HUMANIntAct32814053 details
ATX3_HUMANCP054_HUMANIntAct32814053 details
ATX3_HUMANAB17C_HUMANIntAct32814053 details
ATX3_HUMANEDRF1_HUMANIntAct32814053 details
ATX3_HUMANCLPP_HUMANIntAct32814053 details
ATX3_HUMANNR0B2_HUMANIntAct32814053 details
ATX3_HUMANMKRN3_HUMANIntAct32814053 details
ATX3_HUMANUPAR_HUMANIntAct32814053 details
ATX3_HUMANFBLN1_HUMANIntAct32814053 details
ATX3_HUMANIBP4_HUMANIntAct32814053 details
ATX3_HUMANUNG_HUMANIntAct32814053 details
ATX3_HUMANCHLE_HUMANIntAct32814053 details
ATX3_HUMANFYN_HUMANIntAct32814053 details
ATX3_HUMANTYDP2_HUMANIntAct32814053 details
ATX3_HUMANMICA2_HUMANIntAct32814053 details
ATX3_HUMANARK72_HUMANIntAct32814053 details
ATX3_HUMANFANCG_HUMANIntAct32814053 details
ATX3_HUMANASB3_HUMANIntAct32814053 details
ATX3_HUMANMTF2_HUMANIntAct32814053 details
ATX3_HUMANKLH20_HUMANIntAct32814053 details
ATX3_HUMANLHX6_HUMANIntAct32814053 details
ATX3_HUMANGDAP1_HUMANIntAct32814053 details
ATX3_HUMANGORS2_HUMANIntAct32814053 details
ATX3_HUMANHDAC3_HUMANBioGRID17079677 29802126 details
ATX3_HUMANNCOR1_HUMANBioGRID17079677 details
ATX3_HUMANCBP_HUMANBioGRID12297501 17885668 30994454 details
ATX3_HUMANEP300_HUMANBioGRID12297501 details
ATX3_HUMANKAT2B_HUMANBioGRID12297501 details
ATX3_HUMANCHIP_HUMANBioGRID19153604 20943656 21625540 21855799 23696636 29111377 32401531 details
ATX3_HUMANUB2L3_HUMANBioGRID22081612 details
ATX3_HUMANUBE2S_HUMANBioGRID20622874 details
ATX3_HUMANTRAF6_HUMANBioGRID20622874 details
ATX3_HUMANCSK2B_HUMANBioGRID18839019 details
ATX3_HUMANNEDD8_HUMANBioGRID17935801 details
ATX3_HUMANRFFL_HUMANBioGRID22626734 details
ATX3_HUMANPJA1_HUMANBioGRID22626734 details
ATX3_HUMANTRI63_HUMANBioGRID22626734 details
ATX3_HUMANTRI55_HUMANBioGRID22626734 details
ATX3_HUMANTRI54_HUMANBioGRID22626734 details
ATX3_HUMANUBP21_HUMANBioGRID22626734 details
ATX3_HUMANGDIR1_HUMANBioGRID15952105 details
ATX3_HUMANASIC1_HUMANBioGRID15952105 details
ATX3_HUMANSUMO1_HUMANBioGRID15952105 28275011 details
ATX3_HUMANA4_HUMANBioGRID21832049 details
ATX3_HUMANHDAC6_HUMANBioGRID24685680 details
ATX3_HUMANTBB5_HUMANBioGRID24685680 30455355 details
ATX3_HUMANTBA1A_HUMANBioGRID24685680 details
ATX3_HUMANSQSTM_HUMANBioGRID25158237 details
ATX3_HUMANM3K1_HUMANBioGRID25260751 details
ATX3_HUMANPNKP_HUMANBioGRID25590633 30994454 details
ATX3_HUMANSMUF1_HUMANBioGRID20804422 details
ATX3_HUMANP53_HUMANBioGRID27851749 details
ATX3_HUMANCAN2_HUMANBioGRID27731380 28334907 details
ATX3_HUMANCHK1_HUMANBioGRID28180282 details
ATX3_HUMANCAN1_HUMANBioGRID28334907 details
ATX3_HUMANMLP3A_HUMANBioGRID30460066 31625269 details
ATX3_HUMANGBRAP_HUMANBioGRID31625269 details
ATX3_HUMANMLP3C_HUMANBioGRID31625269 details
ATX3_HUMANIMA1_HUMANBioGRID31107713 details
ATX3_HUMANUB2D3_HUMANBioGRID32401531 details
ATX3_HUMANUBE2W_HUMANBioGRID32401531 details
ATX3_HUMANUBB_HUMANBioGRID, HPRD, MINT12857950 16525503 29111377 details
ATX3_HUMANHAP1_HUMANBioGRID, UniProt21386698 30994454 details
ATX3_HUMANUBAC1_HUMANIntAct31413325 details
ATX3_HUMANMIC60_HUMANMINT31379806 details
ATX3_HUMANLTOR1_HUMANMINT31379806 details
ATX3_HUMANXRCC6_HUMANBioGRID17885668 30455355 details
ATX3_HUMANAMFR_HUMANBioGRID19661182 details
ATX3_HUMANFOXO4_HUMANBioGRID21536589 details
ATX3_HUMANPRS8_HUMANBioGRID17302910 30455355 details
ATX3_HUMANDNJB2_HUMANBioGRID21625540 details
ATX3_HUMANCREB1_HUMANBioGRID11572863 details
ATX3_HUMANPML_HUMANBioGRID11572863 details
ATX3_HUMANSPRTN_HUMANBioGRID23042605 details
ATX3_HUMANB2CL1_HUMANBioGRID23562578 details
ATX3_HUMANSYVN1_HUMANBioGRID24068323 details
ATX3_HUMANMGRN1_HUMANBioGRID24769000 details
ATX3_HUMANITCH_HUMANBioGRID24865853 details
ATX3_HUMANHS90A_HUMANBioGRID27851749 30455355 details
ATX3_HUMANMDC1_HUMANBioGRID28275011 details
ATX3_HUMANSDHB_HUMANBioGRID29111377 details
ATX3_HUMANNDUA4_HUMANBioGRID29111377 30455355 details
ATX3_HUMANHS105_HUMANBioGRID29111377 30455355 details
ATX3_HUMANHS71A_HUMANBioGRID29111377 details
ATX3_HUMANHS71B_HUMANBioGRID29111377 details
ATX3_HUMANDDB1_HUMANBioGRID28180282 30455355 details
ATX3_HUMANCUL1_HUMANBioGRID28180282 30685895 details
ATX3_HUMANCUL4A_HUMANBioGRID28180282 details
ATX3_HUMANTBB3_HUMANBioGRID28180282 details
ATX3_HUMANDYHC1_HUMANBioGRID28180282 30455355 details
ATX3_HUMANCASP7_HUMANBioGRID30455355 details
ATX3_HUMANTBA4A_HUMANBioGRID30455355 details
ATX3_HUMANHD_HUMANBioGRID30994454 details
ATX3_HUMANRPB1_HUMANBioGRID30994454 details
ATX3_HUMANDNLI3_HUMANBioGRID30994454 details
ATX3_HUMANTAF4_HUMANBioGRID30994454 details
ATX3_HUMANFBX33_HUMANBioGRID30685895 details
ATX3_HUMANPTC1_HUMANBioGRID31253779 details
ATX3_HUMANKLF4_HUMANBioGRID31563563 details
ATX3_HUMANLHX3_HUMANBioGRID23861948 details