ATXN3 - ataxin 3 Gene

Homo sapiens

Also known as AT3; JOS; MJD; ATX3; MJD1; SCA3

Gene ID: 4287 | Gene type: protein coding

About ATXN3

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,058,552-92,106,582 (from NCBI)

This gene has 54 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues.

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]

ATXN3 Products(12)

mRNA	Protein	Name
NM_001127696.2	NP_001121168.1	ataxin-3 isoform ad
NM_001127697.3	NP_001121169.2	ataxin-3 isoform e
NM_001164774.2	NP_001158246.1	ataxin-3 isoform b
NM_001164776.2	NP_001158248.1	ataxin-3 isoform g
NM_001164777.2	NP_001158249.1	ataxin-3 isoform j
NM_001164778.2	NP_001158250.1	ataxin-3 isoform o
NM_001164779.2	NP_001158251.1	ataxin-3 isoform r
NM_001164780.2	NP_001158252.1	ataxin-3 isoform u
NM_001164781.2	NP_001158253.1	ataxin-3 isoform y
NM_001164782.2	NP_001158254.1	ataxin-3 isoform ae
NM_004993.6	NP_004984.2	ataxin-3 reference isoform
NM_030660.5	NP_109376.1	ataxin-3 isoform h

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17000876	GOA
enables K48-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	22970133	GOA
enables K63-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	22970133	GOA
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	33157014	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16525503	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16525503	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	24063750	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	20637808	GOA
involved in cellular response to amino acid starvation	IDA IDA: Inferred from direct assay	33157014	GOA
acts upstream of or within intermediate filament cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	20637808	GOA
acts upstream of or within microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	20637808	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	33157014	GOA
involved in positive regulation of ERAD pathway	IMP IMP: Inferred from mutant phenotype	17000876	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	17000876	GOA
involved in protein K48-linked deubiquitination	IDA IDA: Inferred from direct assay	22970133	GOA
involved in protein K63-linked deubiquitination	IDA IDA: Inferred from direct assay	22970133	GOA
involved in protein localization to cytosolic proteasome complex	IMP IMP: Inferred from mutant phenotype	17000876	GOA
acts upstream of or within regulation of cell-substrate adhesion	IMP IMP: Inferred from mutant phenotype	20637808	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	24548080	GOA
colocalizes with endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	17000876	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	33157014	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24548080	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATXN3 Protein Structure

Josephin

UIM

0
100
200
300
364 a.a.

Protein Preferred Names

Protein Names

ataxin-3

Machado-Joseph disease protein 1

Recombinant ATXN3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79456	Ataxin-3 Protein, Human (His)	P54252-2 (M1-K361)	≥95%

Related Diseases

Diseases

Alias

Machado-Joseph Disease

SCA3	MJD
Spinocerebellar Ataxia 3	Azorean Disease
Spinocerebellar Ataxia Type 3	Spinocerebellar Atrophy
Azorean Neurologic Disease	Spinopontine Atrophy
Nigrospinodentatal Degeneration	Spinocerebellar Atrophy Iii
Spinocerebellar Atrophy Type 3	Azorean Ataxia
Azorean Disease Of The Nervous System	Machado Disease
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia	Disease, Machado-Joseph
Ataxia, Spinocerebellar

Machado-Joseph Disease Type 1

Sca3, Joseph Type

Spinocerebellar Ataxia Type 3, Joseph Type

Machado-Joseph Disease Type 3

Sca3, Machado Type

Spinocerebellar Ataxia Type 3, Machado Type

Machado-Joseph Disease Type 2

Sca3, Thomas Type

Spinocerebellar Ataxia, Thomas Type

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2	SCA2
Amyotrophic Lateral Sclerosis 13	Spinocerebellar Degeneration With Slow Eye Movements
SDSEM	Spinocerebellar Atrophy Ii
Olivopontocerebellar Atrophy Ii	Opca2
Cerebellar Degeneration With Slow Eye Movements	Wadia-Swami Syndrome
Amyotrophic Lateral Sclerosis Type 13	ALS13
Olivopontocerebellar Atrophy Holguin Type	Spinocerebellar Ataxia Cuban Type
Olivopontocerebellar Atrophy, Holguin Type	Spinocerebellar Ataxia, Cuban Type
Amyotrophic Lateral Sclerosis, Susceptibility To, 13	Olivopontocerebellar Atrophy 2
Sca 2	Spinocerebellar Ataxia With Slow Eye Movements
Spinocerebellar Atrophy 2	Wadia Swami Syndrome
Opca Ii	Spinocerebellar Ataxia-2
Ataxia, Spinocerebellar, Type 2

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Hereditary Late-Onset Parkinson Disease

Autosomal Dominant Late-Onset Parkinson Disease	Lopd
Hereditary Late Onset Parkinson Disease

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

Primary Cerebellar Degeneration

Spinocerebellar Degenerations	Cerebellar Degenerations, Primary
Spinocerebellar Degeneration

Dentatorubral-Pallidoluysian Atrophy

DRPLA	Naito-Oyanagi Disease
Haw River Syndrome	Myoclonic Epilepsy With Choreoathetosis
Nod	Ataxia, Chorea, Seizures, And Dementia
Dentatorubropallidoluysian Atrophy	Hrs
Naito Oyanagi Disease	Dentatorubral Pallidoluysian Atrophy
Dentatorubro-Pallidoluysian Atrophy	Myoclonic Epilepsies, Progressive
Atrophy, Pallidoluysian, Dentatorubral

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Narcolepsy

Paroxysmal Sleep	Gelineau Syndrome
Narcoleptic Syndrome	Narcolepsy-Cataplexy Syndrome
Cataplexy And Narcolepsy	Narcolepsy, Without Cataplexy
Gelineau'S Syndrome	Narcolepsy With Or Without Cataplexy
Narcolepsy Nos

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17	SCA17
Huntington Disease-Like 4	Hdl4
Olivopontocerebellar Atrophy V	Cerebelloparenchymal Disorder Ii
Opca5	Cpd2
Sca 17	Ataxia, Spinocerebellar, Type 17

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12	SCA12
Ataxia, Spinocerebellar, Type 12

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Dementia

Dementias	Presenile Dementia
Alzheimer Type Dementia	Alzheimer Sclerosis
Alzheimer Disease Dementia	Alzheimer Dementia
Primary Degenerative Alzheimer Type Dementia	End Stage Alzheimer'S Dementia
Alzheimer'S Type Atypical Dementia	Alzheimer Type Presenile Dementia
Early Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 2
Dementia In Alzheimer Disease With Early Onset	Early Onset Alzheimer Type Dementia, Uncomplicated
Primary Degenerative Alzheimer Type Dementia, Early Onset	Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
Alzheimer Disease Dementia With Early Onset	Presenile Sclerosis
Presenile Brain Sclerosis	Presenile Alzheimer Brain Sclerosis
Late Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 1
Dementia In Alzheimer Disease With Late Onset	Primary Degenerative Alzheimer Type Dementia, Late Onset
Sdat - [Senile Dementia, Alzheimer Type]	Alzheimer Disease Dementia With Late Onset
Late Onset Alzheimer Brain Sclerosis	Senile Alzheimer Brain Disease
Senile Alzheimer Brain Sclerosis	Senile Primary Degenerative Alzheimer Type Dementia
Senile Dementia Of The Alzheimer Type	Arteriosclerotic Dementia
Strategic-Infarct Dementia	Post Stroke Dementia
Vascular Cognitive Impairment	Vascular Dementia
Dementia Of The Lewy Body Type	Dementia With Lewy Bodies
Sdlt - [Senile Dementia Of The Lewy Body Type]	Senile Dementia Of The Lewy Body Type
Alcohol-Related Dementia	Alcoholic Dementia Nos
Alcohol-Induced Dementia	Alcoholic Brain Syndrome
Chronic Alcoholic Brain Syndrome	Alcohol Dementia
Late Onset Alcoholic Psychosis	Residual And Late-Onset Alcohol-Induced Psychotic Disorder
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder	Late-Onset Psychoactive Substance-Induced Psychotic Disorder
Inhalant Dementia	Volatile Solvents Dementia
Dementia In Paralysis Agitans	Pdd - [Parkinson Disease Dementia]
Dementia Syndrome Of Parkinson Disease	Dementia In Parkinson Disease
Parkinson Related Dementia	Dementia In Huntington Chorea
Hiv - [Human Immunodeficiency Virus] Dementia	Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex	Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
Aids Related Dementia	Dementia Due To Niacin Deficiency

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease	Sbma
Spinal And Bulbar Muscular Atrophy	Kennedy'S Disease
X-Linked Spinal And Bulbar Muscular Atrophy	SMAX1
Kd	Kennedy Spinal And Bulbar Muscular Atrophy
Spinobulbar Muscular Atrophy	Bulbospinal Muscular Atrophy, X-Linked
Bulbospinal Neuronopathy, X-Linked Recessive	Xbsn
Spinal And Bulbar Muscular Atrophy Of Kennedy	Bulbospinal Muscular Atrophy
X-Linked Bulbospinal Amyotrophy	Bulbo-Spinal Atrophy, X-Linked
Spinal Bulbar Muscular Atrophy	X-Linked Bulbo-Spinal Atrophy
X-Linked Spinal Bulbar Muscular Atrophy	X-Linked Bsma
X-Linked Bulbospinal Muscular Atrophy	Spinal And Bulbar Muscular Atrophy X-Linked 1
Bulbospinal Muscular Atrophy X-Linked	Bulbospinal Neuronopathy X-Linked Recessive
Kennedy Disease)	Kennedy Syndrome
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type	Atrophy, Muscular, Spinobulbar
Bulbospinal Neuronopathy

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Type 7	SCA7
Opca3	Opca Iii
Olivopontocerebellar Atrophy Iii	Opca With Retinal Degeneration
Opca With Macular Degeneration And External Ophthalmoplegia	Adca, Type Ii
Autosomal Dominant Cerebellar Ataxia Type 2	Olivopontocerebellar Atrophy 3
Autosomal Dominant Cerebellar Ataxia, Type Ii	Autosomal Dominant Cerebellar Ataxia Type Ii
Adca2	Adcaii
Ataxia With Pigmentary Retinopathy	Cerebellar Syndrome-Pigmentary Maculopathy Syndrome
Olivopontocerebellar Atrophy With Retinal Degeneration	Spinocerebellar Ataxia-7
Ataxia, Spinocerebellar, Type 7

Cerebellar Ataxia Type 48

Sca48

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Pagetoid Amyotrophic Lateral Sclerosis	Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
Multisystem Proteinopathy	Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
Lower Motor Neuron Degeneration With Paget-Like Bone Disease	Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10	SCA10
Spinocerebellar Ataxia-10	Ataxia, Spinocerebellar, Type 10

Huntington Disease-Like 2

HDL2	Huntington'S Disease-Like 2
Huntington Disease-Like, Type 2

Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism	Lhrh Deficiency And Ataxia
Cerebellar Ataxia-Hypogonadism Syndrome	GDHS
Cahh	Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
Gordon-Holmes Syndrome	Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia	Cerebellar Ataxia - Hypogonadism
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia	Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL	Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance	Mental Retardation, X-Linked 60, Formerly
Mrx60, Formerly	Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
Mrx60	Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6	SCA6
Type 6 Spinocerebellar Ataxia	Spinocerebellar Ataxia-6
Ataxia, Spinocerebellar, Type 6

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

Choreatic Disease

Chorea

Hereditary Chorea

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Movement Disease

Movement Disorders

Movement Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01258	ATXN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01259	ATXN3L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATXN3	VGNC	VGNC:57156
Mus musculus	ATXN3	MGD	MGI:1099442
Rattus norvegicus	ATXN3	RGD	RGD:621567
Others	ATXN3	NCBI