Entity Details

Primary name ATX7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15265
EntryNameATX7_HUMAN
FullNameAtaxin-7
TaxID9606
Evidenceevidence at protein level
Length892
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesATXN7

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0006997 nucleus organization
GO:0007026 negative regulation of microtubule depolymerization
GO:0007601 visual perception
GO:0015630 microtubule cytoskeleton
GO:0016363 nuclear matrix
GO:0016578 histone deubiquitination
GO:0016579 protein deubiquitination

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus
Nucleus matrix

Domains

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DomainNameCategoryType
IPR013243 SCA7 domainDomainDomain
IPR030706 Ataxin-7FamilyFamily

Diseases

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Disease IDSourceNameDescription
164500 OMIMSpinocerebellar ataxia 7 (SCA7)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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

82 interactions

InteractorPartnerSourcesPublicationsLink
ATX7_HUMANPICK1_HUMANBioGRID, HPRD, IntAct16713569 details
ATX7_HUMANASPP2_HUMANBioGRID, HPRD, IntAct16713569 details
ATX7_HUMANRD23A_HUMANBioGRID, HPRD, IntAct16713569 details
ATX7_HUMANACTN1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANACTN2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANAGRIN_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANACTN4_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANADA33_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANFBLN4_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANCEP72_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANCOG6_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANFBLN3_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANCRIM1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANCAR10_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANCEP70_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANKALRN_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANJAG2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANGRN_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANGASP1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANGOGA3_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANFINC_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANFBN1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANGOGA2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANLAMB2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANLRSM1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANLTBP4_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANMATN2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANMEGF6_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANMEGF8_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANMPRIP_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANPP12C_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANNELL1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANNELL2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANNOC2L_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANNUP62_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANPNMA1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANRABE1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANTRI27_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANSIAH1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANSPY1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANITPI2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANTRAF2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANRNF31_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANVWF_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANUBQL2_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANTXD11_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANTRI54_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANTRI23_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANLAMB1_HUMANBioGRID, IntAct21078624 details
ATX7_HUMANSRBS1_HUMANMINT23892081 details
ATX7_HUMANUBP22_HUMANBioGRID, MINT18206972 18206973 19843541 21746879 24981860 26195632 details
ATX7_HUMANCRX_HUMANBioGRID, HPRD11580893 15932940 details
ATX7_HUMANPRS4_HUMANBioGRID, HPRD11734547 details
ATX7_HUMANSNX1_HUMANBioGRID21078624 details
ATX7_HUMANTHY1_HUMANBioGRID21078624 details
ATX7_HUMANSUMO1_HUMANBioGRID19843541 details
ATX7_HUMANSUMO2_HUMANBioGRID19843541 30559154 details
ATX7_HUMANTERA_HUMANBioGRID23652004 details
ATX7_HUMANTRRAP_HUMANBioGRID, HPRD, IntAct, MINT15115762 15932940 16494529 17375202 18206972 24981860 details
ATX7_HUMANKAT2A_HUMANBioGRID, HPRD, IntAct, MINT15115762 15932940 16494529 17375202 18206972 19843541 24981860 31753913 details
ATX7_HUMANTAF10_HUMANBioGRID, HPRD, IntAct, MINT15115762 17375202 18206972 19114550 24981860 details
ATX7_HUMANAT7L3_HUMANBioGRID, IntAct, MINT18206972 19843541 21746879 24981860 26186194 27601583 28514442 details
ATX7_HUMANTAF12_HUMANBioGRID, MINT15932940 16494529 24981860 details
ATX7_HUMANENY2_HUMANBioGRID, MINT21746879 24981860 details
ATX7_HUMANTAF9_HUMANBioGRID, MINT15932940 24981860 details
ATX7_HUMANSUPT3_HUMANBioGRID, MINT15932940 16494529 18206972 24981860 details
ATX7_HUMANTADA3_HUMANBioGRID, MINT15932940 24981860 details
ATX7_HUMANSP20H_HUMANBioGRID, MINT19114550 24981860 details
ATX7_HUMANTAF5L_HUMANBioGRID, MINT15932940 24981860 details
ATX7_HUMANSGF29_HUMANBioGRID, MINT15932940 20850016 24981860 details
ATX7_HUMANPSMD2_HUMANBioGRID11734547 details
ATX7_HUMANPSMD7_HUMANBioGRID11734547 details
ATX7_HUMANPRS8_HUMANBioGRID11734547 details
ATX7_HUMANPRS7_HUMANBioGRID11734547 details
ATX7_HUMANPRS10_HUMANBioGRID11734547 details
ATX7_HUMANEP300_HUMANBioGRID15932940 details
ATX7_HUMANTAD2A_HUMANBioGRID15932940 24981860 details
ATX7_HUMANTBP_HUMANBioGRID15932940 details
ATX7_HUMANUBC9_HUMANBioGRID19843541 details
ATX7_HUMANPIAS1_HUMANBioGRID19843541 details
ATX7_HUMANSUMO3_HUMANBioGRID30559154 details
ATX7_HUMANRNF4_HUMANBioGRID30559154 details