• Gene id: 4287

Gene Summary

• Gene Symbol: ATXN3   Gene   UCSC   Ensembl
• Aliases: AT3, ATX3, JOS, MJD, MJD1, SCA3
• Gene name: ataxin 3
• Alternate names: ataxin-3, Machado-Joseph disease protein 1, josephin, olivopontocerebellar ataxia 3, spinocerebellar ataxia type 3 protein,
• Gene location: 14q32.12 (92106620: 92058551)     Exons: 13     NC_000014.9
• Gene summary(Entrez): Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86
• OMIM: 607047

Protein Summary

• Protein general information: P54252  
  • Name: Ataxin 3 (EC 3.4.19.12) (Machado Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein)
  • Length: 361  
  • Mass: 41250
  • Tissue specificity: Ubiquitous.
• Sequence:

  MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFF
  SIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLAL
  FLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDED
  EEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQ
  QQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK

• Structural information:
  • Protein Domains: (1..18-)
    (/note="Josephin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00331-)
    (224..24-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (244..26-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (-)
  • Interpro: IPR033865  IPR006155  IPR003903  
  • Prosite: PS50957 PS50330
  • PDB: 1YZB 2AGA 2DOS 2JRI 2KLZ 4WTH 4YS9
  • PDBsum: 1YZB 2AGA 2DOS 2JRI 2KLZ 4WTH 4YS9
  • STRING: ENSP00000478320
• Other Databases: GeneCards:  ATXN3  Malacards:  ATXN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904294	positive regulation of ERAD pathway	IMP	biological process
GO:1904379	protein localization to cytosolic proteasome complex involved in ERAD pathway	IMP	biological process
GO:1990380	Lys48-specific deubiquitinase activity	IDA	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	colocalizes with
GO:0005829	cytosol	IDA	cellular component
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0034605	cellular response to heat	ISS	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0031966	mitochondrial membrane	ISS	cellular component
GO:0042405	nuclear inclusion body	ISS	cellular component
GO:0016579	protein deubiquitination	IMP	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0071218	cellular response to misfolded protein	ISS	biological process
GO:0035520	monoubiquitinated protein deubiquitination	ISS	biological process
GO:0031625	ubiquitin protein ligase binding	ISS	molecular function
GO:0031625	ubiquitin protein ligase binding	ISS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	ISS	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	ISS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0045104	intermediate filament cytoskeleton organization	IMP	biological process
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0010810	regulation of cell-substrate adhesion	IMP	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071218	cellular response to misfolded protein	IEA	biological process
GO:0035520	monoubiquitinated protein deubiquitination	IEA	biological process
GO:0034605	cellular response to heat	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0010810	regulation of cell-substrate adhesion	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0042405	nuclear inclusion body	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0035640	exploration behavior	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0070932	histone H3 deacetylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Machado-Joseph disease	KEGG:H01478
Spinocerebellar ataxia	KEGG:H00063
Machado-Joseph disease	KEGG:H01478
Machado-Joseph disease	PMID:9804376
Machado-Joseph disease	PMID:18385100
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881