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ATXN3 ataxin 3 [ Homo sapiens (human) ]

Gene ID: 4287, updated on 19-Dec-2014
Official Symbol
ATXN3provided by HGNC
Official Full Name
ataxin 3provided by HGNC
Primary source
HGNC:HGNC:7106
Locus tag
RP11-529H20.5
See related
Ensembl:ENSG00000066427; HPRD:06131; MIM:607047
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AT3; JOS; MJD; ATX3; MJD1; SCA3
Summary
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 13-36 to 68-79 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, Sep 2009]
See ATXN3 in Epigenomics, MapViewer
Location:
14q21
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (92058552..92106621, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92524896..92572965, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene fibulin 5 Neighboring gene uncharacterized LOC102724531 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene prothymosin, alpha pseudogene 7 Neighboring gene uncharacterized LOC102724564 Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa Neighboring gene cleavage and polyadenylation specific factor 2, 100kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Azorean disease Compare labs

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
NHGRI GWA Catalog
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Lys48-specific deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Lys63-specific deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
omega peptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin thiolesterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-specific protease activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to misfolded protein ISS
Inferred from Sequence or Structural Similarity
more info
 
intermediate filament cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
misfolded or incompletely synthesized protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
monoubiquitinated protein deubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
nucleotide-excision repair TAS
Traceable Author Statement
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
protein K48-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell-substrate adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear inclusion body ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ataxin-3
Names
ataxin-3
josephin
ataxin 3 variant h
ataxin 3 variant m
ataxin 3 variant ref
olivopontocerebellar ataxia 3
Machado-Joseph disease protein 1
spinocerebellar ataxia type 3 protein
Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
NP_001121168.1
NP_001121169.2
NP_001158246.1
NP_001158248.1
NP_001158249.1
NP_001158250.1
NP_001158251.1
NP_001158252.1
NP_001158253.1
NP_001158254.1
NP_004984.2
NP_109376.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008198.1 

    Range
    5001..53070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127696.1NP_001121168.1  ataxin-3 isoform ad

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ad, also known as variant 3) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform ad (also known as isoform 3).
    Source sequence(s)
    AB050194, AL049872, BU190081, DA827537
    Consensus CDS
    CCDS45154.1
    UniProtKB/Swiss-Prot
    P54252
    Conserved Domains (1) summary
    pfam02099
    Location:8153
    Josephin; Josephin
  2. NM_001127697.2NP_001121169.2  ataxin-3 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e, also known as variant 4) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform e (also known as isoform 4).
    Source sequence(s)
    AL049872, AL121773
    Related
    ENSP00000376965, ENST00000393287
    Conserved Domains (1) summary
    pfam02099
    Location:8117
    Josephin; Josephin
  3. NM_001164774.1NP_001158246.1  ataxin-3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform b.
    Source sequence(s)
    AL049872, AL121773
    Conserved Domains (1) summary
    pfam02099
    Location:863
    Josephin; Josephin
  4. NM_001164776.1NP_001158248.1  ataxin-3 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform g.
    Source sequence(s)
    AL049872, AL121773
    Conserved Domains (1) summary
    pfam02099
    Location:878
    Josephin; Josephin
  5. NM_001164777.1NP_001158249.1  ataxin-3 isoform j

    Status: REVIEWED

    Description
    Transcript Variant: This variant (j) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform j.
    Source sequence(s)
    AL049872, AL121773
    Conserved Domains (1) summary
    pfam02099
    Location:923
    Josephin; Josephin
  6. NM_001164778.1NP_001158250.1  ataxin-3 isoform o

    Status: REVIEWED

    Description
    Transcript Variant: This variant (o) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform o.
    Source sequence(s)
    AL049872, AL121773
    Conserved Domains (1) summary
    pfam02099
    Location:8129
    Josephin; Josephin
  7. NM_001164779.1NP_001158251.1  ataxin-3 isoform r

    Status: REVIEWED

    Description
    Transcript Variant: This variant (r) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform r.
    Source sequence(s)
    AL049872, AL121773
    Conserved Domains (1) summary
    pfam02099
    Location:547
    Josephin; Josephin
  8. NM_001164780.1NP_001158252.1  ataxin-3 isoform u

    Status: REVIEWED

    Description
    Transcript Variant: This variant (u) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform u. PMID:19714377 predicts that this is a noncoding transcript, but there is a downstream orf that may encode a protein identical to the C-terminus of the reference isoform.
    Source sequence(s)
    AL049872, AL121773
    Consensus CDS
    CCDS53908.1
    UniProtKB/Swiss-Prot
    P54252
  9. NM_001164781.1NP_001158253.1  ataxin-3 isoform y

    Status: REVIEWED

    Description
    Transcript Variant: This variant (y) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform y.
    Source sequence(s)
    AL049872, AL121773
    Consensus CDS
    CCDS73680.1
    UniProtKB/TrEMBL
    C9JQV6
    Related
    ENSP00000389376, ENST00000429774
    Conserved Domains (1) summary
    pfam02099
    Location:998
    Josephin; Josephin
  10. NM_001164782.1NP_001158254.1  ataxin-3 isoform ae

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ae) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform ae.
    Source sequence(s)
    AL049872, AL121773
  11. NM_004993.5NP_004984.2  ataxin-3 reference isoform

    See proteins identical to NP_004984.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (reference, also known as variant 1) encodes the longest isoform (reference isoform, also known as isoform 1).
    Source sequence(s)
    AB050194, AL049872, DA827537
    Consensus CDS
    CCDS9900.1
    UniProtKB/Swiss-Prot
    P54252
    Related
    ENSP00000445618, ENST00000545170
    Conserved Domains (1) summary
    pfam02099
    Location:8168
    Josephin; Josephin
  12. NM_030660.4NP_109376.1  ataxin-3 isoform h

    See proteins identical to NP_109376.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (h, also known as variant 2) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform h (also known as isoform 2).
    Source sequence(s)
    AB050194, AL049872, DA827537
    Consensus CDS
    CCDS32143.1
    UniProtKB/Swiss-Prot
    P54252
    Conserved Domains (1) summary
    pfam02099
    Location:9113
    Josephin; Josephin

RNA

  1. NR_028453.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  2. NR_028454.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  3. NR_028455.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  4. NR_028456.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (i) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  5. NR_028457.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (k) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  6. NR_028458.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (l) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  7. NR_028459.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (m) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
    Source sequence(s)
    AL049872, AL121773
  8. NR_028460.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (n) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  9. NR_028461.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (p) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  10. NR_028462.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (q) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
    Source sequence(s)
    AL049872, AL121773
  11. NR_028463.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (t) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  12. NR_028464.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (v) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
    Source sequence(s)
    AL049872, AL121773
  13. NR_028465.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (w) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  14. NR_028466.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (x) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  15. NR_028467.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (z) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  16. NR_028468.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ac) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  17. NR_028469.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (af) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  18. NR_028470.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (am) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773
  19. NR_031765.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
    Source sequence(s)
    AL049872, AL121773

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    92058552..92106621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    92463194..92511266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    72705822..72754183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001024631.1: Suppressed sequence

    Description
    NM_001024631.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.