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Aliases for ATXN3 Gene

Aliases for ATXN3 Gene

  • Ataxin 3 2 3
  • SCA3 3 4 6
  • MJD 3 4 6
  • Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3) 2 3
  • Spinocerebellar Ataxia Type 3 Protein 3 4
  • Machado-Joseph Disease Protein 1 3 4
  • ATX3 3 4
  • MJD1 3 4
  • Olivopontocerebellar Ataxia 3 3
  • Ataxin 3 Variant Ref 3
  • Ataxin 3 Variant H 3
  • Ataxin 3 Variant M 3
  • EC 3.4.19.12 4
  • EC 3.4.22 63
  • Ataxin-3 3
  • Josephin 3
  • AT3 3
  • JOS 3

External Ids for ATXN3 Gene

Previous HGNC Symbols for ATXN3 Gene

  • SCA3
  • MJD

Previous GeneCards Identifiers for ATXN3 Gene

  • GC14M091599
  • GC14M092524
  • GC14M072705

Summaries for ATXN3 Gene

Entrez Gene Summary for ATXN3 Gene

  • 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]

GeneCards Summary for ATXN3 Gene

ATXN3 (Ataxin 3) is a Protein Coding gene. Diseases associated with ATXN3 include machado-joseph disease and machado-joseph disease type 1. Among its related pathways are Akt Signaling and Protein processing in endoplasmic reticulum. GO annotations related to this gene include identical protein binding and ubiquitin thiolesterase activity. An important paralog of this gene is ATXN3L.

UniProtKB/Swiss-Prot for ATXN3 Gene

  • Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription.

Gene Wiki entry for ATXN3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN3 Gene

Genomics for ATXN3 Gene

Regulatory Elements for ATXN3 Gene

Transcription factor binding sites by QIAGEN in the ATXN3 gene promoter:

Genomic Location for ATXN3 Gene

Start:
92,038,652 bp from pter
End:
92,106,621 bp from pter
Size:
67,970 bases
Orientation:
Minus strand

Genomic View for ATXN3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN3 Gene

Proteins for ATXN3 Gene

  • Protein details for ATXN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54252-ATX3_HUMAN
    Recommended name:
    Ataxin-3
    Protein Accession:
    P54252
    Secondary Accessions:
    • A7LFZ5
    • D6RDL9
    • E9PB63
    • O15284
    • O15285
    • O15286
    • Q8N189
    • Q96TC3
    • Q96TC4
    • Q9H3N0

    Protein attributes for ATXN3 Gene

    Size:
    364 amino acids
    Molecular mass:
    41781 Da
    Quaternary structure:
    • Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins RAD23A and RAD23B.

    Three dimensional structures from OCA and Proteopedia for ATXN3 Gene

    Alternative splice isoforms for ATXN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN3 Gene

Proteomics data for ATXN3 Gene at MOPED

Post-translational modifications for ATXN3 Gene

  • Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity
  • Ubiquitination at Lys117, Lys190, Lys200, and Lys291
  • Modification sites at PhosphoSitePlus

Domains for ATXN3 Gene

Gene Families for ATXN3 Gene

HGNC:

Protein Domains for ATXN3 Gene

Graphical View of Domain Structure for InterPro Entry

P54252

UniProtKB/Swiss-Prot:

ATX3_HUMAN :
  • P54252
Domain:
  • The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains (By similarity).
  • Contains 1 Josephin domain.
  • Contains 3 UIM (ubiquitin-interacting motif) domains.
genes like me logo Genes that share domains with ATXN3: view

Function for ATXN3 Gene

Molecular function for ATXN3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot Function: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription.

Enzyme Numbers (IUBMB) for ATXN3 Gene

Gene Ontology (GO) - Molecular Function for ATXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004221 ubiquitin thiolesterase activity --
GO:0004843 ubiquitin-specific protease activity ISS --
GO:0005515 protein binding IPI 16525503
GO:0008242 omega peptidase activity IEA --
GO:0031625 ubiquitin protein ligase binding ISS --
genes like me logo Genes that share ontologies with ATXN3: view

Phenotypes for ATXN3 Gene

genes like me logo Genes that share phenotypes with ATXN3: view

Animal Models for ATXN3 Gene

MGI Knock Outs for ATXN3:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ATXN3 Gene

Localization for ATXN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN3 Gene

Nucleus matrix. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN3 Gene COMPARTMENTS Subcellular localization image for ATXN3 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 24548080
GO:0005654 nucleoplasm TAS 9580663
GO:0005737 cytoplasm TAS 9124802
GO:0005759 mitochondrial matrix ISS --
GO:0005829 cytosol IDA 24548080
genes like me logo Genes that share ontologies with ATXN3: view

Pathways for ATXN3 Gene

genes like me logo Genes that share pathways with ATXN3: view

Pathways by source for ATXN3 Gene

Gene Ontology (GO) - Biological Process for ATXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 20637808
GO:0006289 nucleotide-excision repair TAS 10915768
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis --
genes like me logo Genes that share ontologies with ATXN3: view

Compounds for ATXN3 Gene

(4) Novoseek inferred chemical compound relationships for ATXN3 Gene

Compound -log(P) Hits PubMed IDs
glutamine 86.3 111
polyacrylamide 21 2
cysteine 16.8 7
testosterone 0 2
genes like me logo Genes that share compounds with ATXN3: view

Transcripts for ATXN3 Gene

Unigene Clusters for ATXN3 Gene

Ataxin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - - -
SP6: - - -
SP7: - - - - - - -
SP8: -
SP9: - - -
SP10:

Relevant External Links for ATXN3 Gene

GeneLoc Exon Structure for
ATXN3
ECgene alternative splicing isoforms for
ATXN3

Expression for ATXN3 Gene

mRNA expression in normal human tissues for ATXN3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ATXN3 Gene

SOURCE GeneReport for Unigene cluster for ATXN3 Gene Hs.532632

mRNA Expression by UniProt/SwissProt for ATXN3 Gene

P54252-ATX3_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with ATXN3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATXN3 Gene

Orthologs for ATXN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN3 35
  • 99.33 (n)
  • 99.13 (a)
ATXN3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN3 35
  • 92.51 (n)
  • 95.29 (a)
ATXN3 36
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 85 (a)
ManyToMany
-- 36
  • 89 (a)
ManyToMany
-- 36
  • 94 (a)
ManyToMany
ATXN3 35
  • 91.93 (n)
  • 94.75 (a)
mouse
(Mus musculus)
Mammalia Atxn3 35
  • 87.61 (n)
  • 86.43 (a)
Atxn3 16
Atxn3 36
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atxn3 35
  • 85.45 (n)
  • 86.14 (a)
chicken
(Gallus gallus)
Aves ATXN3 35
  • 78.77 (n)
  • 79.46 (a)
ATXN3 36
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.3069 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn3 35
  • 72.1 (n)
  • 73.23 (a)
Str.4713 35
zebrafish
(Danio rerio)
Actinopterygii atxn3 35
  • 64 (n)
  • 69.33 (a)
ATXN3 36
  • 60 (a)
OneToMany
zgc56323 35
worm
(Caenorhabditis elegans)
Secernentea atx-3 35
  • 51.07 (n)
  • 40.34 (a)
atx-3 36
  • 35 (a)
OneToMany
Species with no ortholog for ATXN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATXN3 Gene

ENSEMBL:
Gene Tree for ATXN3 (if available)
TreeFam:
Gene Tree for ATXN3 (if available)

Paralogs for ATXN3 Gene

Paralogs for ATXN3 Gene

Selected SIMAP similar genes for ATXN3 Gene using alignment to 201 proteins:

Pseudogenes.org Pseudogenes for ATXN3 Gene

genes like me logo Genes that share paralogs with ATXN3: view

Variants for ATXN3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN3 Gene

P54252-ATX3_HUMAN
The MJD1a allele carries a single nucleotide substitution in codon 349 generating a stop codon instead of a Tyr. In the Japanese population, the MJD1a allele seems to be significantly associated with Gln expansion

Sequence variations from dbSNP and Humsavar for ATXN3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs709930 -- 92,064,169(+) ACCGA(C/T)GCATT utr-variant-3-prime, nc-transcript-variant
rs761551 -- 92,080,801(+) AAACT(G/T)CTAGC intron-variant
rs761552 -- 92,080,832(+) TGCCC(A/G)TCCTA intron-variant
rs761553 -- 92,081,081(+) CAACA(C/G)AACAA intron-variant
rs872756 -- 92,081,580(-) TCCAT(A/G)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN3 Gene

Variant ID Type Subtype PubMed ID
dgv1975n71 CNV Loss 21882294
nsv527458 CNV Loss 19592680
nsv902190 CNV Loss 21882294
nsv456395 CNV Loss 19166990
nsv85878 CNV Insertion 16902084

Relevant External Links for ATXN3 Gene

HapMap Linkage Disequilibrium report
ATXN3
Human Gene Mutation Database (HGMD)
ATXN3

Disorders for ATXN3 Gene

(1) OMIM Diseases for ATXN3 Gene (607047)

UniProtKB/Swiss-Prot

ATX3_HUMAN
  • Spinocerebellar ataxia 3 (SCA3) [MIM:109150]: 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269 PubMed:7874163}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(25) Novoseek inferred disease relationships for ATXN3 Gene

Disease -log(P) Hits PubMed IDs
machado-joseph disease 98.7 87
spinocerebellar ataxias 90.7 15
drpla 84.5 16
spinocerebellar degenerations 83.7 5
neurodegenerative diseases 81.9 35

Relevant External Links for ATXN3

GeneTests
ATXN3
GeneReviews
ATXN3
Genetic Association Database (GAD)
ATXN3
Human Genome Epidemiology (HuGE) Navigator
ATXN3
genes like me logo Genes that share disorders with ATXN3: view

Publications for ATXN3 Gene

  1. Machado-Joseph disease gene products carrying different carboxyl termini. (PMID: 9274833) Goto J. … Kanazawa I. (Neurosci. Res. 1997) 3 4 23
  2. Ataxin-3 is transported into the nucleus and associates with the nuclear matrix. (PMID: 9580663) Tait D. … Wanker E.E. (Hum. Mol. Genet. 1998) 3 4 23
  3. Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. (PMID: 12166658) Costa M.C. … Maciel P. (J. Hum. Genet. 2002) 3 23 48
  4. Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. (PMID: 12297501) Li F. … Chakravarti D. (J. Biol. Chem. 2002) 3 4 23
  5. Structural modeling of ataxin-3 reveals distant homology to adaptins. (PMID: 12486728) Albrecht M. … Lengauer T. (Proteins 2003) 3 4 23

Products for ATXN3 Gene

  • Addgene plasmids for ATXN3

Sources for ATXN3 Gene

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