ATXN3, ataxin 3

ATXN3, ataxin 3

• 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 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]

• Gene Synonyms (AT3, ATX3, JOS, MJD, MJD1, SCA3, ataxin-3, Machado-Joseph disease protein 1, josephin, olivopontocerebellar ataxia 3, spinocerebellar ataxia type 3 protein,)
• NCBI Gene ID: 4287
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P54252
  UNIPROT ID#>>A0A0A0MS38
  UNIPROT ID#>>C9JQV6
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

ataxin 3 interacts with:

• 3-hydroxyacyl-CoA dehydratase 3
  actin related protein 1A
  acyl-CoA thioesterase 9
  ADP ribosylation factor interacting protein 2
  AE binding protein 2
  AF4/FMR2 family, member 1
  ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
  aminoacyl tRNA synthetase complex interacting multifunctional protein 2
  angiomotin
  apoptosis inducing factor mitochondria associated 1
  arginyl-tRNA synthetase 1
  ataxin 2 like
  ataxin 3
  ATP synthase membrane subunit f
  B cell receptor associated protein 31
  BAF chromatin remodeling complex subunit BCL7C
  BAG cochaperone 2
  BAG cochaperone 3
  BAG cochaperone 5
  BAG cochaperone 6
  beclin 1
  calmodulin regulated spectrin associated protein family member 3
  CCR4-NOT transcription complex subunit 6
  CDGSH iron sulfur domain 2
  centrosomal protein 152
  chaperonin containing TCP1 subunit 2
  chaperonin containing TCP1 subunit 3
  chaperonin containing TCP1 subunit 4
  chaperonin containing TCP1 subunit 5
  chaperonin containing TCP1 subunit 7
  chaperonin containing TCP1 subunit 8
  chromosome 16 open reading frame 70
  chromosome 8 open reading frame 82
  cullin 1
  cullin 4A
  cytochrome c oxidase assembly factor 7 (putative)
  cytoplasmic FMR1 interacting protein 1
  DExD-box helicase 39A
  diablo IAP-binding mitochondrial protein
  DNA polymerase delta interacting protein 3
  DnaJ heat shock protein family (Hsp40) member A2
  DnaJ heat shock protein family (Hsp40) member A3
  DnaJ heat shock protein family (Hsp40) member C7
  DND microRNA-mediated repression inhibitor 1
  dolichyl-phosphate mannosyltransferase subunit 1, catalytic
  dynactin subunit 2
  dynamin 1 like
  elongation factor Tu GTP binding domain containing 2
  ENAH actin regulator
  eukaryotic translation initiation factor 3 subunit A
  exportin 1
  FA complementation group I
  family with sequence similarity 184 member B
  Fas associated factor family member 2
  F-box protein 33
  forkhead box O4
  GCN1 activator of EIF2AK4
  glucosidase II alpha subunit
  glyceronephosphate O-acyltransferase
  glycine C-acetyltransferase
  GrpE like 1, mitochondrial
  guided entry of tail-anchored proteins factor 4
  HCLS1 associated protein X-1
  heat shock protein 90 beta family member 1
  heat shock protein family A (Hsp70) member 4 like
  heat shock protein family H (Hsp110) member 1
  HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
  heterogeneous nuclear ribonucleoprotein M
  histone deacetylase 3
  histone deacetylase 6
  huntingtin associated protein 1
  hydroxysteroid 17-beta dehydrogenase 11
  hydroxysteroid 17-beta dehydrogenase 12
  hydroxysteroid dehydrogenase like 2
  importin 7
  insulin receptor substrate 4
  IQ motif containing GTPase activating protein 1
  iron-sulfur cluster assembly factor IBA57
  itchy E3 ubiquitin protein ligase
  KDEL endoplasmic reticulum protein retention receptor 1
  LanC like 1
  leucyl-tRNA synthetase 1
  LSM12 homolog
  lysine acetyltransferase 2B
  lysophosphatidylcholine acyltransferase 1
  MAGE family member D1
  mahogunin ring finger 1
  MALT1 paracaspase
  MAPK interacting serine/threonine kinase 1
  MAPK regulated corepressor interacting protein 1
  matrix AAA peptidase interacting protein 1
  mediator of DNA damage checkpoint 1
  membrane associated ring-CH-type finger 5
  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
  microtubule associated protein 1 light chain 3 alpha
  minichromosome maintenance complex binding protein
  mitochondrial calcium uniporter
  mitochondrial genome maintenance exonuclease 1
  myosin heavy chain 10
  myosin heavy chain 9
  NADH:ubiquinone oxidoreductase complex assembly factor 2
  NADH:ubiquinone oxidoreductase subunit A8
  NCK associated protein 1
  NDUFA4 mitochondrial complex associated
  NEDD8 ubiquitin like modifier
  NFKB inhibitor alpha
  N-glycanase 1
  NME/NM23 nucleoside diphosphate kinase 1
  non-POU domain containing octamer binding
  nuclear FMR1 interacting protein 2
  nuclear receptor corepressor 1
  nucleophosmin 1
  nucleosome assembly protein 1 like 1
  OTU deubiquitinase, ubiquitin aldehyde binding 2
  oxoglutarate dehydrogenase
  parkin RBR E3 ubiquitin protein ligase
  patched 1
  peptidylprolyl isomerase A
  peroxiredoxin 1
  peroxiredoxin 2
  peroxiredoxin 3
  peroxiredoxin 4
  PGAM family member 5, mitochondrial serine/threonine protein phosphatase
  phosphoglycerate dehydrogenase
  phosphoglycerate kinase 1
  phosphoribosyl pyrophosphate synthetase 1
  phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
  phosphoserine aminotransferase 1
  platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
  PML nuclear body scaffold
  poly(rC) binding protein 1
  polynucleotide kinase 3'-phosphatase
  potassium channel tetramerization domain containing 10
  praja ring finger ubiquitin ligase 1
  pre-mRNA processing factor 40 homolog A
  pre-mRNA processing factor 8
  profilin 1
  prohibitin
  prohibitin 2
  proline and serine rich coiled-coil 1
  proteasome 20S subunit alpha 1
  proteasome 20S subunit alpha 4
  proteasome 20S subunit alpha 5
  proteasome 20S subunit alpha 6
  proteasome 20S subunit beta 1
  proteasome 20S subunit beta 2
  proteasome 20S subunit beta 4
  proteasome 20S subunit beta 5
  proteasome 20S subunit beta 6
  proteasome 26S subunit, ATPase 1
  proteasome 26S subunit, ATPase 2
  proteasome 26S subunit, ATPase 3
  proteasome 26S subunit, ATPase 4
  proteasome 26S subunit, ATPase 5
  proteasome 26S subunit, ATPase 6
  proteasome 26S subunit, non-ATPase 1
  proteasome 26S subunit, non-ATPase 11
  proteasome 26S subunit, non-ATPase 12
  proteasome 26S subunit, non-ATPase 13
  proteasome 26S subunit, non-ATPase 14
  proteasome 26S subunit, non-ATPase 2
  proteasome 26S subunit, non-ATPase 3
  proteasome 26S subunit, non-ATPase 4
  proteasome 26S subunit, non-ATPase 6
  proteasome 26S subunit, non-ATPase 7
  protein disulfide isomerase family A member 6
  protein interacting with PRKCA 1
  protein kinase, DNA-activated, catalytic subunit
  protein-L-isoaspartate (D-aspartate) O-methyltransferase
  pyruvate carboxylase
  pyruvate kinase M1/2
  RAB21, member RAS oncogene family
  RAD23 homolog A, nucleotide excision repair protein
  RAD23 homolog B, nucleotide excision repair protein
  RAN binding protein 1
  RAN, member RAS oncogene family
  RB binding protein 4, chromatin remodeling factor
  receptor for activated C kinase 1
  regulator of microtubule dynamics 1
  RELA proto-oncogene, NF-kB subunit
  remodeling and spacing factor 1
  replication protein A1
  replication protein A2
  replication protein A3
  retinol dehydrogenase 13
  Rho GTPase activating protein 19
  ribophorin I
  ribosomal protein L15
  ribosomal protein L23
  ribosomal protein L38
  ribosomal protein lateral stalk subunit P0
  ribosomal protein S12
  ribosomal protein S13
  ribosomal protein S14
  ribosomal protein S15a
  ribosomal protein S16
  ribosomal protein S19
  ribosomal protein S2
  ribosomal protein S20
  ribosomal protein S27
  ribosomal protein S3
  ribosomal protein S3A
  ribosomal protein S4 X-linked
  ribosomal protein S6
  ribosomal protein S6 kinase A1
  ribosomal protein S8
  ribosomal protein S9
  ring finger and FYVE like domain containing E3 ubiquitin protein ligase
  ring finger protein 126
  RNA binding motif protein 25
  RNA polymerase II subunit A
  RNA transcription, translation and transport factor
  RuvB like AAA ATPase 1
  S100 calcium binding protein A8
  SEC61 translocon subunit alpha 1
  SEH1 like nucleoporin
  semenogelin 2
  sequestosome 1
  seryl-tRNA synthetase 1
  sideroflexin 4
  signal sequence receptor subunit 4
  single stranded DNA binding protein 1
  SMAD specific E3 ubiquitin protein ligase 1
  small nuclear ribonucleoprotein D2 polypeptide
  small nuclear ribonucleoprotein D3 polypeptide
  small nuclear ribonucleoprotein U5 subunit 200
  small ubiquitin like modifier 1
  solute carrier family 1 member 5
  solute carrier family 16 member 1
  solute carrier family 25 member 1
  solute carrier family 25 member 11
  solute carrier family 25 member 22
  solute carrier family 25 member 3
  solute carrier family 27 member 4
  solute carrier family 3 member 2
  sorcin
  splicing factor 3a subunit 3
  splicing factor 3b subunit 1
  splicing factor 3b subunit 2
  splicing factor 3b subunit 3
  splicing factor 3b subunit 6
  splicing factor proline and glutamine rich
  SprT-like N-terminal domain
  STIP1 homology and U-box containing protein 1
  stress induced phosphoprotein 1
  succinate dehydrogenase complex flavoprotein subunit A
  succinate dehydrogenase complex iron sulfur subunit B
  synaptosome associated protein 23
  syndecan 2
  synoviolin 1
  TATA-box binding protein associated factor 4
  t-complex 1
  testis expressed 11
  thioredoxin
  thymidine kinase 1
  TNF receptor associated factor 2
  TNF receptor associated factor 6
  trafficking from ER to golgi regulator
  trans-2,3-enoyl-CoA reductase
  transketolase
  translocase of inner mitochondrial membrane 23
  translocase of inner mitochondrial membrane 50
  translocase of outer mitochondrial membrane 20 like
  transmembrane and coiled-coil domains 1
  triosephosphate isomerase 1
  tripartite motif containing 28
  tripartite motif containing 54
  tripartite motif containing 55
  tripartite motif containing 63
  TRPM8 channel associated factor 1
  tubulin alpha 1a
  tubulin alpha 1c
  tubulin alpha 4a
  tubulin beta 3 class III
  tubulin beta 4A class IVa
  tubulin beta 4B class IVb
  tubulin beta 8 class VIII
  tubulin beta class I
  tumor protein p53
  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
  UBA domain containing 2
  ubiquilin 1
  ubiquitin B
  ubiquitin C
  ubiquitin conjugating enzyme E2 L3
  ubiquitin conjugating enzyme E2 S
  ubiquitin like 4A
  ubiquitin like modifier activating enzyme 1
  ubiquitin protein ligase E3 component n-recognin 2
  ubiquitin protein ligase E3 component n-recognin 2
  ubiquitin specific peptidase 13
  ubiquitin specific peptidase 21
  ubiquitin specific peptidase 7
  ubiquitination factor E4B
  valosin containing protein
  valyl-tRNA synthetase 1
  vimentin
  WD repeat domain 87
  X-ray repair cross complementing 5
  YTH N6-methyladenosine RNA binding protein 2

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.