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    ATXN3 ataxin 3 [ Homo sapiens (human) ]

    Gene ID: 4287, updated on 12-Mar-2017
    Official Symbol
    ATXN3provided by HGNC
    Official Full Name
    ataxin 3provided by HGNC
    Primary source
    HGNC:HGNC:7106
    See related
    Ensembl:ENSG00000066427 MIM:607047; Vega:OTTHUMG00000162212
    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 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]
    Orthologs
    Location:
    14q32.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 thyroid hormone receptor interactor 11 Neighboring gene prothymosin, alpha pseudogene 7 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1 Neighboring gene cleavage and polyadenylation specific factor 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Josephin domain DUBs, organism-specific biosystem (from REACTOME)
      Josephin domain DUBs, organism-specific biosystemThe Josephin domain is present in four human DUBs: Ataxin-3 (ATXN3), ATXN3L, Josephin-1 (JOSD1) and JOSD2. All have been shown to possess DUB activity (Tzveltkov & Breuer 2007, Weeks et al. 2011). Jo...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • 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 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thiol-dependent ubiquitinyl hydrolase activity TAS
    Traceable Author Statement
    more info
     
    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
     
    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
     
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    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 
    positive regulation of ERAD pathway IMP
    Inferred from Mutant Phenotype
    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 
    protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein localization to cytosolic proteasome complex involved in ERAD pathway IMP
    Inferred from Mutant Phenotype
    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
     
    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 
    cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with endoplasmic reticulum membrane 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
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    ataxin-3
    Names
    Machado-Joseph disease protein 1
    josephin
    olivopontocerebellar ataxia 3
    spinocerebellar ataxia type 3 protein
    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_008198.2 RefSeqGene

      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
      Related
      ENSP00000426697, OTTHUMP00000221587, ENST00000503767, OTTHUMT00000367926
      Conserved Domains (2) summary
      pfam02099
      Location:9148
      Josephin; Josephin
      pfam16619
      Location:249313
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    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
      UniProtKB/TrEMBL
      A0A0A0MS38
      Related
      ENSP00000376965, ENST00000393287
      Conserved Domains (2) summary
      pfam02099
      Location:9112
      Josephin; Josephin
      pfam16619
      Location:213277
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    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:956
      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:978
      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:1023
      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:9129
      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
      Related
      ENSP00000450641, OTTHUMP00000245332, ENST00000556220, OTTHUMT00000412092
      Conserved Domains (2) summary
      pfam02099
      Location:542
      Josephin; Josephin
      pfam16619
      Location:143207
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    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
      Related
      ENSP00000425322, OTTHUMP00000221586, ENST00000502250, OTTHUMT00000367925
      Conserved Domains (1) summary
      pfam16619
      Location:85149
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    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 (2) summary
      pfam02099
      Location:993
      Josephin; Josephin
      pfam16619
      Location:194258
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    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 identical proteins and their annotated locations for 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
      ENSP00000478320, OTTHUMP00000221583, ENST00000558190, OTTHUMT00000367922
      Conserved Domains (2) summary
      pfam02099
      Location:9163
      Josephin; Josephin
      pfam16619
      Location:264328
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    12. NM_030660.4NP_109376.1  ataxin-3 isoform h

      See identical proteins and their annotated locations for 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
      Related
      ENSP00000339110, OTTHUMP00000221585, ENST00000340660, OTTHUMT00000367924
      Conserved Domains (2) summary
      pfam02099
      Location:10108
      Josephin; Josephin
      pfam16619
      Location:209273
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      92463194..92511266 complement
      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.
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