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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATXN3 Gene

protein-coding GIFtS: 67
GCID: GC14M092524

ataxin 3

(Previous names: Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar...)
(Previous symbols: SCA3, MJD)

Explore 44 diseases affiliated with
ATXN3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ataxin 3¹ ²		AT3²
MJD¹ ² ³ ⁵		Ataxin 3 Variant H²
SCA3¹ ² ³ ⁵		Ataxin 3 Variant M²
ATX3¹ ² ³		Ataxin 3 Variant Ref²
JOS¹ ²		Ataxin-3¹
Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3)¹ ²		Josephin¹
Spinocerebellar Ataxia Type 3 Protein² ³		Olivopontocerebellar Ataxia 3²
MJD1² ³		EC 3.4.19.12³
Machado-Joseph Disease Protein 1² ³		EC 3.4.22⁸

External Ids:	HGNC: 7106¹	Entrez Gene: 4287²	Ensembl: ENSG00000066427⁷	OMIM: 607047⁵	UniProtKB: P54252³

ORGUL members:
	NONCODE:n408257

Export aliases for ATXN3 gene to outside databases

Previous GC identifers: GC14M091599 GC14M072705

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATXN3:

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)

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

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

Gene Wiki entry for ATXN3 (Ataxin 3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATXN3 gene promoter:
TBP TFIID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATXN3 promoter sequence

Search SABiosciences Chromatin IP Primers for ATXN3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21 Ensembl cytogenetic band: 14q32.12 HGNC cytogenetic band: 14q21

ATXN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN3 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M092524: view genomic region (about GC identifiers)

Start:	92,524,896 bp from pter	End:	92,572,965 bp from pter
Size:	48,070 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252 (See protein sequence)

Recommended Name: Ataxin-3

Size: 364 amino acids; 41781 Da

Subunit: Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins RAD23A

and RAD23B

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

5 PDB 3D structures from and Proteopedia for ATXN3:

1YZB (3D)

2AGA (3D)

2DOS (3D)

2JRI (3D)

2KLZ (3D)

Secondary accessions: A7LFZ5 O15284 O15285 O15286 Q8N189 Q96TC3 Q96TC4 Q9H3N0

Alternative splicing: 3 isoforms: P54252-1 P54252-2 P54252-3

Explore the universe of human proteins at neXtProt for ATXN3: NX_P54252

Post-translational modifications:

Monoubiquitinated by UBE2W, possibly leading to activate the deubiquitinating enzyme activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P54252

4/8 DME Specific Peptides for ATXN3 (P54252) (see all 8)

IFHEKQEG

WFNLNSLL

GPELISDT

RPKLIGEE

ATXN3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (12 alternative transcripts):

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

ENSEMBL proteins:

ENSP00000376965 ENSP00000352324 ENSP00000425322 ENSP00000426697 ENSP00000339110

ENSP00000437157 ENSP00000451001 ENSP00000450642 ENSP00000451910 ENSP00000451385

ENSP00000451132 ENSP00000451769 ENSP00000451417 ENSP00000452139 ENSP00000452461

ENSP00000452532 ENSP00000451399 ENSP00000451996 ENSP00000450566 ENSP00000451733

ENSP00000451405 ENSP00000451771 ENSP00000451693 ENSP00000451103 ENSP00000450641

ENSP00000450492 ENSP00000452356 ENSP00000422073 ENSP00000435571 ENSP00000445618

ENSP00000389376

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for ATXN3 (Ataxin-3, Ataxin UIM Domains)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ATXN3 OriGene Protein Over-expression Lysate (see all 3): ATXN3 OriGene Custom Protein Services for ATXN3
	GenScript Custom Purified and Recombinant Proteins Services for ATXN3
	Novus Biologicals ATXN3 Proteins
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for ATXN3
	Uscn Proteins for ATXN3

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005654	nucleoplasm	TAS	9580663
GO:0005737	cytoplasm	TAS	9124802
GO:0005759	mitochondrial matrix	IEA	--
GO:0016363	nuclear matrix	IEA	--
GO:0031966	mitochondrial membrane	IEA	--

ATXN3 for ontologies About GeneDecksing

ATXN3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ATXN3
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	Novus Biologicals ATXN3 Antibodies
	Abcam antibodies for ATXN3
	Uscn Antibodies for ATXN3
	ThermoFisher Antibody for ATXN3

Assay Products for ATXN3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATXN3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ATXN3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATXN3 for domains About GeneDecksing

2 InterPro domains/families:

IPR006155 Josephin

IPR003903 Ubiquitin-int_motif

Graphical View of Domain Structure for InterPro Entry P54252

ProtoNet protein and cluster: P54252

2 Blocks protein families:

IPB003903 Ubiquitin interacting motif

IPB006155 Josephin signature

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)

Similarity: Contains 1 Josephin domain

Similarity: Contains 3 UIM (ubiquitin-interacting motif) repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

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

Catalytic activity: 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)

Enzyme Numbers (IUBMB): EC 3.4.22² EC 3.4.19.12¹

miRNA Products:		OriGene 3'-UTR Clone (see all 12): ATXN3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN3
		8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN3 (see all 80):
		hsa-miR-323-3p hsa-miR-520f hsa-miR-4272 hsa-miR-3653 hsa-miR-383 hsa-miR-489 hsa-miR-3613-3p hsa-miR-155*

		SwitchGear 3'UTR luciferase reporter plasmid: ATXN3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATXN3 (see all 7) OriGene shRNA RFP: ATXN3 OriGene siRNA: ATXN3
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ATXN3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 12): ATXN3 (NM_004993)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ATXN3
		Search LifeMap BioReagents cell lines for ATXN3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001012	RNA polymerase II regulatory region DNA binding	IEA	--
GO:0004221	ubiquitin thiolesterase activity	ISS	--
GO:0004843	ubiquitin-specific protease activity	ISS	--
GO:0005515	protein binding	IPI	16525503
GO:0008242	omega peptidase activity	IEA	--

ATXN3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ATXN3:

Increased homologous recombina

Animal Models:
Mouse knock-out Atxn3^tm1Isch for ATXN3
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Atxn3):

behavior/neurological

nervous system

ATXN3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Proteolysis Putative ubiquitin pathway

Proteolysis Putative ubiquitin pathway

1.00

Proteolysis_Putative ubiquitin pathway

0.97

Regulation of degradation of wt-CFTR

Regulation of degradation of wt-CFTR

1.00

Regulation of degradation of deltaF508 CFTR in CF

0.59

Protein processing in endoplasmic reticulum

Protein processing in endoplasmic reticulum

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ATXN3

Proteolysis Putative ubiquitin pathway

3 GeneGo (Thomson Reuters) Pathways for ATXN3

	Regulation of degradation of deltaF508 CFTR in CF
	Proteolysis Putative ubiquitin pathway
	Regulation of degradation of wt-CFTR

1 Kegg Pathway (Kegg details for ATXN3):

Protein processing in endoplasmic reticulum

ATXN3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATXN3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/61 Interacting proteins for ATXN3 (P54252^{1, 2, 3} ENSP00000352324⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
VCP	P55072¹^,²^,³, ENSP00000351777⁴	EBI-946068,EBI-1046421 MINT-2837662 MINT-2837891 MINT-2837871 MINT-2837641 MINT-2838376 MINT-2837835 MINT-7903973 MINT-2838443 MINT-7904025 MINT-2838413 MINT-2837781 MINT-50296 MINT-2837757 MINT-7904005 MINT-50299 I2D: score=11 STRING: ENSP00000351777
UBQLN1	Q9UMX0²^,³, ENSP00000365576⁴	MINT-4300171 MINT-4300075 I2D: score=3 STRING: ENSP00000365576
PSMD7	P51665²^,³, ENSP00000219313⁴	MINT-50298 MINT-50300 I2D: score=2 STRING: ENSP00000219313
RAD23A	P54725²^,³, ENSP00000321365⁴	MINT-2862451 I2D: score=4 STRING: ENSP00000321365
ARHGAP19	Q14CB8²^,³, ENSP00000351333⁴	MINT-2877777 I2D: score=3 STRING: ENSP00000351333

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000226	microtubule cytoskeleton organization	IMP	--
GO:0006289	nucleotide-excision repair	TAS	10915768
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006515	misfolded or incompletely synthesized protein catabolic process	ISS	--

ATXN3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATXN3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ATXN3
4 Novoseek chemical compound relationships for ATXN3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamine	86.3	153	10556285 (6), 14659761 (5), 10993685 (3), 11561037 (3) (see all 77)
polyacrylamide	21	2	10465503 (1), 20334689 (1)
cysteine	16.8	9	16020535 (2), 10085113 (1), 14559776 (1), 17079677 (1) (see all 6)
testosterone	0	2	9535906 (1), 11356158 (1)

Search CenterWatch for drugs/clinical trials and news about ATXN3 / ATX3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATXN3 gene (13 alternative transcripts):

NM_001127696.1 NM_001127697.2 NM_001164774.1 NM_001164776.1 NM_001164777.1 NM_001164778.1 NM_001164779.1 NM_001164780.1

NM_001164781.1 NM_001164782.1 NM_004993.5 NM_030660.4 NM_001024631.1

Unigene Cluster for ATXN3:

Ataxin 3

Hs.532632 [show with all ESTs]

Unigene Representative Sequence: NR_028457

18/48 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 48):

ENST00000526245 ENST00000393287 ENST00000359366 ENST00000502250 ENST00000503767

ENST00000340660 ENST00000532032(uc021rzp.1 uc021rzo.1) ENST00000555381

ENST00000557311 ENST00000555816 ENST00000554592 ENST00000556315 ENST00000556898

ENST00000554672 ENST00000557030 ENST00000556644 ENST00000553488(uc021rzs.1 uc021rzw.1)

ENST00000554040

miRNA Products:		OriGene 3'-UTR Clone (see all 12): ATXN3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN3
		8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN3 (see all 80):
		hsa-miR-323-3p hsa-miR-520f hsa-miR-4272 hsa-miR-3653 hsa-miR-383 hsa-miR-489 hsa-miR-3613-3p hsa-miR-155*

		SwitchGear 3'UTR luciferase reporter plasmid: ATXN3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AB050194.1 AB209309.1 AK021920.1 AK225884.1 AK307720.1 AK314919.1 BC033711.1 BC095402.1

GQ176433.1 GQ176434.1 GQ176435.1 GQ176436.1 GQ176437.1 GQ176438.1 GQ176439.1 GQ176440.1

GQ176441.1 GQ176442.1 GQ176443.1 GQ176444.1 GQ176445.1 GQ176446.1 GQ176447.1 GQ176448.1

GQ176449.1 GQ176450.1 GQ176451.1 GQ176452.1 GQ176453.1 GQ176454.1 GQ176455.1 GQ176456.1

GQ176457.1 GQ176458.1 GQ176459.1 GQ176460.1 GQ176461.1 GQ176462.1 GQ176463.1 GQ176464.1

GQ176465.1 GQ176466.1 GQ176467.1 GQ176468.1 GQ176469.1 GQ176470.1 GQ176471.1 GQ176472.1

GQ176473.1 GQ176474.1 GQ176475.1 GQ176476.1 GQ176477.1 GQ176478.1 GQ176479.1 GQ176480.1

GQ176481.1 GQ176482.1 GQ176483.1 GQ176484.1 GQ176485.1 GQ176486.1 GQ176487.1 GQ176488.1

GQ176489.1 GQ176490.1 GQ176491.1 GQ176492.1 GQ176493.1 GQ176494.1 GQ176495.1 GQ176496.1

GQ176497.1 GQ176498.1 GQ176499.1 GQ176500.1 GQ176501.1 GQ176502.1 GQ176503.1 GQ176504.1

GQ176505.1 GQ176506.1 GQ176507.1 GQ176508.1 GQ176509.1 GQ176510.1 GQ176511.1 GQ176512.1

GQ176513.1 GQ176514.1 GQ176515.1 GQ176516.1 GQ176517.1 GQ176518.1 GQ176519.1 GQ176520.1

GQ176521.1 GQ176522.1 GQ176523.1 GQ176524.1 GQ176525.1 GQ176526.1 GQ176527.1 GQ176528.1

GQ176529.1 GQ176530.1 GQ176531.1 GQ176532.1 GQ176533.1 GQ176534.1 GQ176535.1 GQ176536.1

GQ176537.1 GQ176538.1 GQ176539.1 GQ176540.1 GQ176541.1 GQ176542.1 GQ176543.1 GQ176544.1

GQ176545.1 GQ176546.1 GQ176547.1 GQ176548.1 GQ176549.1 GQ176550.1 GQ176551.1 GQ176552.1

GQ176553.1 GQ176554.1 GQ176555.1 GQ176556.1 GQ176557.1 GQ176558.1 GQ176559.1 GQ176560.1

GQ176561.1 GQ176562.1 GQ176563.1 GQ176564.1 GQ176565.1 GQ176566.1 GQ176567.1 GQ176568.1

GQ176569.1 GQ176570.1 GQ176571.1 GQ176572.1 GQ176573.1 GQ176574.1 GQ176575.1 GQ176576.1

GQ176577.1 GQ176578.1 GQ176579.1 GQ176580.1 GQ176581.1 GQ176582.1 GQ176583.1 GQ176584.1

GQ176585.1 GQ176586.1 GQ176587.1 GQ176588.1 GQ176589.1 GQ176590.1 GQ176591.1 GQ176592.1

GQ176593.1 GQ176594.1 GQ176595.1 GQ176596.1 GQ176597.1 GQ176598.1 GQ176599.1 GQ176600.1

GQ176601.1 GQ176602.1 GQ176603.1 GQ176604.1 GQ176605.1 GQ176606.1 GQ176607.1 GQ176608.1

GQ176609.1 GQ176610.1 GQ176611.1 GQ176612.1 GQ176613.1 GQ176614.1 GQ176615.1 GQ176616.1

GQ176617.1 GQ176618.1 GQ176619.1 GQ176620.1 GQ176621.1 GQ176622.1 GQ176623.1 GQ176624.1

GQ176625.1 GQ176626.1 GQ176627.1 GQ176628.1 GQ176629.1 GQ176630.1 GQ176631.1 GQ176632.1

GQ176633.1 GQ176634.1 GQ176635.1 GQ176636.1 GQ176637.1 GQ176638.1 GQ176639.1 GQ176640.1

GQ176641.1 GQ176642.1 GQ176643.1 GQ176644.1 GQ176645.1 GQ176646.1 GQ176647.1 GQ176648.1

GQ176649.1 GQ176650.1 GQ176651.1 GQ176652.1 GQ176653.1 GQ176654.1 GQ176655.1 GQ176656.1

GQ176657.1 GQ176658.1 GQ176659.1 GQ176660.1 GQ176661.1 GQ176662.1 GQ176663.1 GQ176664.1

GQ176665.1 GQ176666.1 GQ176667.1 GQ176668.1 GQ176669.1 GQ176670.1 GQ176671.1 GQ176672.1

GQ176673.1 GQ176674.1 GQ176675.1 GQ176676.1 GQ176677.1 GQ176678.1 GQ176679.1 GQ176680.1

GQ176681.1 GQ176682.1 GQ176683.1 GQ176684.1 GQ176685.1 GQ176686.1 GQ176687.1 GQ176688.1

GQ176689.1 GQ176690.1 GQ176691.1 GQ176692.1 GQ176693.1 GQ176694.1 GQ176695.1 GQ176696.1

GQ176697.1 GQ176698.1 GQ176699.1 GQ176700.1 GQ176701.1 GQ176702.1 GQ176703.1 GQ176704.1

GQ176705.1 GQ176706.1 GQ176707.1 GQ176708.1 GQ176709.1 GQ176710.1 GQ176711.1 GQ176712.1

GQ176713.1 GQ176714.1 GQ176715.1 GQ176716.1 GQ176717.1 GQ176718.1 GQ176719.1 GQ176720.1

GQ176721.1 GQ176722.1 GQ176723.1 GQ176724.1 GQ176725.1 GQ176726.1 GQ176727.1 GQ176728.1

GQ176729.1 GQ176730.1 GQ176731.1 GQ176732.1 GQ176733.1 GQ176734.1 GQ176735.1 GQ176736.1

GQ176737.1 GQ176738.1 GQ176739.1 GQ176740.1 GQ176741.1 GQ176742.1 GQ176743.1 GQ176744.1

GQ176745.1 GQ176746.1 GQ176747.1 GQ176748.1 GQ176749.1 GQ176750.1 GQ176751.1 GQ176752.1

GQ176753.1 GQ176754.1 GQ176755.1 GQ176756.1 GQ176757.1 GQ176758.1 GQ176759.1 GQ176760.1

GQ176761.1 GQ176762.1 GQ176763.1 GQ176764.1 GQ176765.1 GQ176766.1 GQ176767.1 GQ176768.1

GQ176769.1 GQ176770.1 GQ176771.1 GQ176772.1 GQ176773.1 GQ176774.1 GQ176775.1 GQ176776.1

GQ176777.1 GQ176778.1 GQ176779.1 GQ176780.1 GQ176781.1 GQ176782.1 GQ176783.1 GQ176784.1

GQ176785.1 GQ176786.1 GQ176787.1 GQ176788.1 GQ176789.1 GQ176790.1 GQ176791.1 GQ176792.1

GQ176793.1 GQ176794.1 GQ176795.1 GQ176796.1 GQ176797.1 GQ176798.1 GQ176799.1 GQ176800.1

GQ176801.1 GQ176802.1 GQ176803.1 GQ176804.1 GQ176805.1 GQ176806.1 GQ176807.1 GQ176808.1

GQ176809.1 GQ176810.1 GQ176811.1 GQ176812.1 GQ176813.1 GQ176814.1 GQ176815.1 GQ176816.1

GQ176817.1 GQ176818.1 GQ176819.1 GQ176820.1 GQ176821.1 GQ176822.1 GQ176823.1 GQ176824.1

GQ176825.1 GQ176826.1 GQ176827.1 GQ176828.1 GQ176829.1 GQ176830.1 GQ176831.1 GQ176832.1

GQ176833.1 GQ176834.1 GQ176835.1 GQ176836.1 GQ176837.1 GQ176838.1 GQ176839.1 GQ176840.1

GQ176841.1 GQ176842.1 GQ176843.1 GQ176844.1 GQ176845.1 GQ176846.1 GQ176847.1 NR_028453.1

NR_028454.1 NR_028455.1 NR_028456.1 NR_028457.1 NR_028458.1 NR_028459.1 NR_028460.1 NR_028461.1

NR_028462.1 NR_028463.1 NR_028464.1 NR_028465.1 NR_028466.1 NR_028467.1 NR_028468.1 NR_028469.1

NR_028470.1 NR_031765.1 S75313.1 U63332.1 U64820.1 U64822.1

18 DOTS entries:

DT.425017 DT.443649 DT.87015142 DT.100891031 DT.456211 DT.92425329 DT.92425333 DT.100726270

DT.204093 DT.95161774 DT.95258069 DT.95261469 DT.100009304 DT.100041932 DT.100009305 DT.92425330

DT.100671959 DT.75139018

24/117 AceView cDNA sequences (see all 117):

NM_030660 BX439196 BC022245 BU190081 AA907480 CD367728 BU684328 AL709144

AA961624 D20589 AA737644 AI292001 AA352543 BQ775895 NM_004993 AA768286

CR602562 BU663113 AA642481 AA677999 CA309171 BE018570 AB050194 BU153544

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN3 (see all 10) About this scheme

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

ECgene alternative splicing isoforms for ATXN3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATXN3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATACAAGTGC

About this image
See ATXN3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN3

SOURCE GeneReport for Unigene cluster: Hs.532632

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Arrays including ATXN3:

Parkinson's Disease in human mouse rat

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Unfolded Protein Response in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATXN3 gene from 9/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Atxn3^{1 , 5}	ataxin 3^{1, 5}	88.23(n)¹ 87.29(a)¹		12 (51.32 cM)⁵ 110616¹ NM_029705.3¹ NP_083981.2¹ 101918901⁵
chicken (Gallus gallus)	Aves	ATXN3¹	ataxin 3	79.11(n) 80.06(a)		378424 NM_204357.1 NP_989688.1
lizard (Anolis carolinensis)	Reptilia	--	--	69(a)	1 → many	1(11657238-11669503)
African clawed frog (Xenopus laevis)	Amphibia	Xl.3069²	Xenopus laevis transcribed sequence with moderate similarity more	80.34(n)		BX846134.1
zebrafish (Danio rerio)	Actinopterygii	zgc56323²	similar to Machado-Joseph disease (spinocerebellar more	73.75(n)		394079 BC050519.1
honey bee (Apis mellifera)	Insecta	--	--	43(a)	1 → many	GroupUn.507(27146-28776)
worm (Caenorhabditis elegans)	Secernentea	atx-3¹	Protein ATX-3	49.94(n) 37.98(a)		180049 NM_074472.6 NP_506873.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G54130¹	Ataxin-3 like protein	46.56(n) 38.87(a)		824580 NM_115273.3 NP_190981.1
rice (Oryza sativa)	Liliopsida	Os01g0851400¹	hypothetical protein	44.72(n) 35.92(a)		4324808 NM_001051356.2 NP_001044821.2

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ATXN3 gene

ATXN3L²

1 SIMAP similar gene for ATXN3 using alignment to 202 protein entries: ATX3_HUMAN (see all proteins):

ATXN3L

ATXN3 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for ATXN3
PGOHUM00000248156 PGOHUM00000249779

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Polymorphism: The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is

expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56728821^1,2	C,F,	--	72705401(+)	`ATAGAG/ATATCA`	31	--	ds500¹		2	WA CSA	4
rs10148817^1,2	C,F,H,	--	72705426(+)	`CCTGCG/ATTATT`	31	--	ds500¹		6	NS EA CSA WA	538
rs74071833^1,2	C,F,	--	72706012(+)	`GAAGGG/ACTGCA`	31	--	ut3¹ nc-transcript-variant		3	WA CSA	122
rs73323741^1,2	C,	--	72706202(+)	`ATGTAC/TGTTTT`	31	--	ut3¹ nc-transcript-variant		1	WA	2
rs9652396^1,2	C,F,	--	72706543(+)	`ACTCAT/CGAAAG`	31	--	ut3¹ nc-transcript-variant		2	WA NA	238
rs116994678^1,2	C,F,	--	72706669(+)	`TTATTT/CTGAAT`	31	--	ut3¹ nc-transcript-variant		1	NA	120
rs78681557^1,2	C,	--	72707608(+)	`GGCACC/TCTGCA`	31	--	ut3¹ nc-transcript-variant		1	WA	2
rs1134377^1,2	C,F,H,	--	72708088(-)	`tggcgA/Gcagag`	31	--	ut3¹ nc-transcript-variant		7	NA WA CSA EA	368
rs112586446^1,2		--	72708221(+)	`GGTCTC/TGAACT`	31	--	ut3¹ nc-transcript-variant		1	CSA	2
rs111461096^1,2		--	72708762(+)	`CCAAGG/ACTTAA`	31	--	ut3¹ nc-transcript-variant		1	CSA	2

HapMap Linkage Disequilibrium report for ATXN3 (92524896 - 92572965 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN3: --
Human Gene Mutation Database (HGMD): ATXN3

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATXN3 for disorders           About GeneDecksing

OMIM gene information: 607047
OMIM disorders: 109150
UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) [MIM:109150]; also known as

Machado-Joseph disease (MJD). 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 degeneration of the cerebellum 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 ATXN3 coding region.

Longer expansions result in earlier onset and more severe clinical manifestations of the disease

20/44 diseases for ATXN3 (see all 44): About MalaCards

machado-joseph disease spinocerebellar ataxia ataxia spinal-bulbar muscular atrophy

spinocerebellar ataxia type 3 dopa-responsive dystonia spinal cerebellar ataxia spinocerebellar ataxia type 7

neuronal intranuclear inclusion disease spastic paraplegia restless legs syndrome myokymia

hereditary spastic paraplegia friedreich ataxia spinocerebellar degeneration autonomic dysfunction

cerebellar ataxia muscular atrophy amyotrophic lateral sclerosis paraplegia

6 diseases from the University of Copenhagen DISEASES database for ATXN3:

Spinocerebellar ataxia dentatorubral-pallidoluysian atrophy Cerebellar ataxia Huntington's disease

Multiple system atrophy Ophthalmoplegia

10/25 Novoseek disease relationships for ATXN3 gene (see all 25) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
machado-joseph disease	98.7	137	10465503 (2), 11446399 (2), 8528200 (2), 8800925 (1) (see all 84)
spinocerebellar ataxias	90.7	20	15140190 (2), 7655453 (1), 15316156 (1), 16791428 (1) (see all 14)
drpla	84.5	18	17650485 (2), 19235102 (2), 10453742 (2), 9613852 (2) (see all 12)
spinocerebellar degenerations	83.7	7	17696782 (1), 17983597 (1), 12857950 (1), 12938149 (1) (see all 5)
neurodegenerative diseases	81.9	46	14659761 (2), 12857950 (2), 8800925 (1), 8659514 (1) (see all 33)
sca12	76	5	19235102 (2), 11914409 (1), 17420317 (1)
sca17	76	5	17650485 (2), 19235102 (1), 17420317 (1)
spinocerebellar ataxia type 2	75.1	4	19672991 (1), 15265035 (1), 17440947 (1)
facial myokymia	69.4	1	9562258 (1)
ataxias hereditary	66.5	2	18042234 (1), 17420317 (1)

GeneTests: ATXN3

Spinocerebellar Ataxia Type 3

Genetic Association Database (GAD): ATXN3
Human Genome Epidemiology (HuGE) Navigator: ATXN3 (20 documents)

Export disorders for ATXN3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATXN3 gene, integrated from 9 sources (see all 306):
(articles sorted by number of sources associating them with ATXN3)

Utopia: connect your pdf to the dynamic
world of online information

Structural modeling of ataxin-3 reveals distant homology to adaptins. (PubMed id 12486728)^{1, 2, 9} Albrecht M....Lengauer T. (2003)
Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. (PubMed id 17696782)^{1, 2, 9} Tzvetkov N. and Breuer P. (2007)
Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain. (PubMed id 16118278)^{1, 2, 9} Mao Y....De Camilli P. (2005)
Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. (PubMed id 12297501)^{1, 2, 9} Li F.... Chakravarti D. (2002)
Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. (PubMed id 12166658)^{1, 4, 9} Costa M.d.o. .C....Maciel P. (2002)
Ataxin-3 is transported into the nucleus and associates with the nuclear matrix. (PubMed id 9580663)^{1, 2, 9} Tait D.... Wanker E.E. (1998)
Machado-Joseph disease gene products carrying different carboxyl termini. (PubMed id 9274833)^{1, 2, 9} Goto J.... Kanazawa I. (1997)
CAG repeats in Restless Legs syndrome. (PubMed id 16389595)^{1, 4} Konieczny M....Schols L. (2006)
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (PubMed id 15210524)^{1, 4} Smith C.O....Bird T.D. (2004)
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. (PubMed id 14756671)^{1, 4} Wu Y.R....Lee-Chen G.J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4287	HGNC: 7106	AceView: ATXN3	Ensembl:ENSG00000066427	euGenes: HUgn4287
ECgene: ATXN3	Kegg: 4287	H-InvDB: ATXN3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATXN3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ATXN3	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/atxn3/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN3

Intellectual Property for ATXN3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ATXN3 gene:
Search GeneIP for patents involving ATXN3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ATXN3 gene at Home site.

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ataxin 3

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Spinocerebellar Ataxias
Friedreich Ataxia
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DRPLA
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ATXN3 Gene

ataxin 3

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