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ATXN3 ataxin 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001127696 Homo sapiens ataxin 3 (ATXN3), transcript variant ad, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001127697 Homo sapiens ataxin 3 (ATXN3), transcript variant e, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001164774 Homo sapiens ataxin 3 (ATXN3), transcript variant b, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164776 Homo sapiens ataxin 3 (ATXN3), transcript variant g, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164777 Homo sapiens ataxin 3 (ATXN3), transcript variant j, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164778 Homo sapiens ataxin 3 (ATXN3), transcript variant o, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164779 Homo sapiens ataxin 3 (ATXN3), transcript variant r, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001164780 Homo sapiens ataxin 3 (ATXN3), transcript variant u, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001164781 Homo sapiens ataxin 3 (ATXN3), transcript variant y, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001164782 Homo sapiens ataxin 3 (ATXN3), transcript variant ae, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_004993 Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_030660 Homo sapiens ataxin 3 (ATXN3), transcript variant h, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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Gene Symbol ATXN3
Entrez Gene ID 4287
Full Name ataxin 3
Synonyms AT3, ATX3, JOS, MJD, MJD1, SCA3
General protein information
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
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q21

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].
Disorder

MIM: 607047

Machado-Joseph disease, 109150 (3)

mRNA Protein Product Sequence Price Select
NM_001127696, 189163492 NP_001121168, 189163493 ataxin-3 isoform ad ORF Sequence $400.00
NM_001127697, 258613998 NP_001121169, 258613999 ataxin-3 isoform e ORF Sequence $300.00
NM_001164774, 258614018 NP_001158246, 258614019 ataxin-3 isoform b ORF Sequence $150.00
NM_001164776, 258614022 NP_001158248, 258614023 ataxin-3 isoform g ORF Sequence $150.00
NM_001164777, 258614026 NP_001158249, 258614027 ataxin-3 isoform j ORF Sequence $150.00
NM_001164778, 258614024 NP_001158250, 258614025 ataxin-3 isoform o ORF Sequence $150.00
NM_001164779, 258614028 NP_001158251, 258614029 ataxin-3 isoform r ORF Sequence $250.00
NM_001164780, 258614030 NP_001158252, 258614031 ataxin-3 isoform u ORF Sequence $250.00
NM_001164781, 258614032 NP_001158253, 258614033 ataxin-3 isoform y ORF Sequence $300.00
NM_001164782, 258614034 NP_001158254, 258614035 ataxin-3 isoform ae ORF Sequence $150.00
NM_004993, 189163490 NP_004984, 13518019 ataxin-3 reference isoform ORF Sequence $400.00
NM_030660, 189163491 NP_109376, 13518013 ataxin-3 isoform h ORF Sequence $300.00
KEGG
hsa04141Protein processing in endoplasmic reticulum
Homo sapiens (human)ATXN3NP_001121168.1
Pan troglodytes (chimpanzee)ATXN3XP_001146724.2
Macaca mulatta (Rhesus monkey)LOC720515XP_001116022.2
Canis lupus familiaris (dog)ATXN3XP_003435073.1
Bos taurus (cattle)ATXN3NP_001092686.1
Mus musculus (house mouse)Atxn3NP_083981.2
Rattus norvegicus (Norway rat)Atxn3NP_067734.1
Gallus gallus (chicken)ATXN3NP_989688.1
Danio rerio (zebrafish)atxn3NP_957398.1
Caenorhabditis elegansatx-3NP_506873.1
Xenopus (Silurana) tropicalis (western clawed frog)atxn3NP_001016389.1
Process
IDNameEvidence
GO:0000226microtubule cytoskeleton organizationIMP
GO:0006289nucleotide-excision repairTAS
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedIEA
GO:0006515misfolded or incompletely synthesized protein catabolic processISS
GO:0007268synaptic transmissionTAS
GO:0007399nervous system developmentTAS
GO:0008219cell deathIEA
GO:0010810regulation of cell-substrate adhesionIMP
GO:0030036actin cytoskeleton organizationIMP
GO:0035520monoubiquitinated protein deubiquitinationISS
GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic processISS
GO:0045104intermediate filament cytoskeleton organizationIMP
GO:0070536protein K63-linked deubiquitinationIDA
GO:0071108protein K48-linked deubiquitinationIDA
GO:0071218cellular response to misfolded proteinISS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005737cytoplasmTAS
GO:0005829cytosolIDA
GO:0016363nuclear matrixIEA
Function
IDNameEvidence
GO:0004221ubiquitin thiolesterase activityISS
GO:0004843ubiquitin-specific protease activityISS
GO:0005515protein bindingIPI
GO:0008242omega peptidase activityIEA
GO:0031625ubiquitin protein ligase bindingIPI
GO:0031625ubiquitin protein ligase bindingISS
GO:0042802identical protein bindingIPI
GO:0051117ATPase bindingIPI
GO:0061578Lys63-specific deubiquitinase activityIDA
GO:1990380Lys48-specific deubiquitinase activityIDA
GeneCards ATXN3
UniProt P54252
Vega OTTHUMG00000162212
MIM 607047
Ensembl ENSG00000066427
HGNC 7106
HPRD 06131

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ATXN3 gene?

The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin attaches (binds) to unneeded proteins and tags them to be broken down (degraded) within cells. Ataxin-3 removes (cleaves) the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Due to its role in cleaving ubiquitin from proteins, ataxin-3 is known as a deubiquitinating enzyme.

Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription).

Interactant

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