Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4287 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Ataxin 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ATXN3 |
SynonymsGene synonyms aliases
|
AT3, ATX3, JOS, MJD, MJD1, SCA3 |
ChromosomeChromosome number
|
14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q32.12 |
SummarySummary of gene provided in NCBI Entrez 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 12-44 to 52-86 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000226 |
Process |
Microtubule cytoskeleton organization |
IMP |
20637808 |
GO:0004843 |
Function |
Thiol-dependent ubiquitin-specific protease activity |
IBA |
21873635 |
GO:0004843 |
Function |
Thiol-dependent ubiquitin-specific protease activity |
ISS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
16525503, 16713569, 17000876, 20414249, 21386698, 21625540, 22970133, 30455355, 32814053 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
24548080 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005730 |
Component |
Nucleolus |
IDA |
|
GO:0005737 |
Component |
Cytoplasm |
TAS |
9124802 |
GO:0005759 |
Component |
Mitochondrial matrix |
ISS |
|
GO:0005789 |
Component |
Endoplasmic reticulum membrane |
IDA |
17000876 |
GO:0005829 |
Component |
Cytosol |
IDA |
24548080 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
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GO:0006289 |
Process |
Nucleotide-excision repair |
TAS |
10915768 |
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
ISS |
|
GO:0006515 |
Process |
Protein quality control for misfolded or incompletely synthesized proteins |
ISS |
|
GO:0007268 |
Process |
Chemical synaptic transmission |
TAS |
7655453 |
GO:0007399 |
Process |
Nervous system development |
TAS |
9124802 |
GO:0008234 |
Function |
Cysteine-type peptidase activity |
IEA |
|
GO:0010810 |
Process |
Regulation of cell-substrate adhesion |
IMP |
20637808 |
GO:0016363 |
Component |
Nuclear matrix |
IEA |
|
GO:0016579 |
Process |
Protein deubiquitination |
IBA |
21873635 |
GO:0016579 |
Process |
Protein deubiquitination |
IMP |
17000876 |
GO:0016579 |
Process |
Protein deubiquitination |
TAS |
|
GO:0018215 |
Process |
Protein phosphopantetheinylation |
IEA |
|
GO:0030036 |
Process |
Actin cytoskeleton organization |
IMP |
20637808 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
24063750, 24068323 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
ISS |
|
GO:0031966 |
Component |
Mitochondrial membrane |
ISS |
|
GO:0034605 |
Process |
Cellular response to heat |
ISS |
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GO:0035520 |
Process |
Monoubiquitinated protein deubiquitination |
ISS |
|
GO:0042405 |
Component |
Nuclear inclusion body |
ISS |
|
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
ISS |
|
GO:0045104 |
Process |
Intermediate filament cytoskeleton organization |
IMP |
20637808 |
GO:0045202 |
Component |
Synapse |
IEA |
|
GO:0051117 |
Function |
ATPase binding |
IPI |
17000876, 22970133 |
GO:0061578 |
Function |
Lys63-specific deubiquitinase activity |
IDA |
22970133 |
GO:0070536 |
Process |
Protein K63-linked deubiquitination |
IDA |
22970133 |
GO:0071108 |
Process |
Protein K48-linked deubiquitination |
IDA |
22970133 |
GO:0071218 |
Process |
Cellular response to misfolded protein |
ISS |
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GO:1904294 |
Process |
Positive regulation of ERAD pathway |
IMP |
17000876 |
GO:1904379 |
Process |
Protein localization to cytosolic proteasome complex involved in ERAD pathway |
IMP |
17000876 |
GO:1990380 |
Function |
Lys48-specific deubiquitinase activity |
IDA |
22970133 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P54252 |
Protein name |
Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein) |
Protein function |
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118278, PubMed:17696782, PubMed:23625928, PubMed |
PDB |
1YZB
,
2AGA
,
2DOS
,
2JRI
,
2KLZ
,
4WTH
,
4YS9
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02099 |
Josephin |
9 → 166 |
Josephin |
Family |
PF02809 |
UIM |
224 → 239 |
Ubiquitin interaction motif |
Motif |
PF02809 |
UIM |
244 → 260 |
Ubiquitin interaction motif |
Motif |
PF16619 |
SUIM_assoc |
263 → 329 |
|
Disordered |
PF02809 |
UIM |
335 → 350 |
Ubiquitin interaction motif |
Motif |
|
Sequence |
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Sequence length |
361 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
29566793 |
Cerebellar ataxia |
Progressive cerebellar ataxia |
rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887 |
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External ophthalmoplegia |
External Ophthalmoplegia |
rs1569484022 |
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Nystagmus |
Nystagmus, End-Position |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Parkinson disease |
PARKINSON DISEASE, LATE-ONSET |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebellar atrophy |
Cerebellar atrophy |
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Degeneration of the striatum |
Degeneration of the striatum |
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Dementia |
Dementia |
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Distal amyotrophy |
Distal amyotrophy |
rs1457770815 |
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Distal lower limb amyotrophy |
Distal lower limb amyotrophy |
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Dysarthria |
Dysarthria |
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Dysphagia |
Deglutition Disorders |
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Dyssomnia |
Dyssomnias |
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Machado-joseph disease |
Machado-Joseph Disease, Machado-Joseph Disease Type I, Machado-Joseph Disease Type II, Machado-Joseph Disease Type III, Machado-Joseph Disease Type IV, Machado-Joseph disease type 1, Machado-Joseph disease type 3, Machado-Joseph disease type 2 |
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Mental depression |
Mental Depression, Depressive disorder |
rs587778876, rs587778877 |
21717286, 21437988, 8215926, 25139423, 19811945, 21437988, 19811945, 25139423, 21717286, 8215926 |
Nervous system diseases |
Peripheral Nervous System Diseases |
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Neurogenic urinary bladder |
Neurogenic Urinary Bladder |
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Peripheral axonal neuropathy |
Peripheral axonal neuropathy |
rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185 |
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Progressive external ophthalmoplegia |
Chronic progressive external ophthalmoplegia |
rs515726194, rs387906891, rs387906892, rs1556423295, rs2072267 |
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Proptosis |
Exophthalmos |
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Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Sleep disorders |
Sleep Disorders |
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Spinocerebellar degeneration |
Spinocerebellar tract degeneration |
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Supranuclear ophthalmoplegia |
Supranuclear ophthalmoplegia |
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Vocal cord paralysis |
Vocal Cord Paralysis |
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