ATN1 - atrophin 1 Gene

Also Known as B37; HRS; NOD; DRPLA; CHEDDA; D12S755E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1822

About ATN1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,924,459-6,942,321 (from NCBI)

This gene has 4 transcripts (splice variants), 191 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues.

Summary

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic Amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]

ATN1 Products (2)

mRNA	Protein	Name
NM_001007026.2	NP_001007027.1	atrophin-1
NM_001940.4	NP_001931.2	atrophin-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9647693	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	11984006	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	10973986	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10973986	GOA
involved in neuron apoptotic process	IDA IDA: Inferred from direct assay	10085113	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear matrix	IDA IDA: Inferred from direct assay	10973986	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10085113	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

ATN1 Protein Structure

Atrophin-1

0
200
400
600
800
1000
1190 a.a.

Protein Preferred Names	Protein Names
atrophin-1	dentatorubral-pallidoluysian atrophy protein

ATN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATN1	P54259	PSME3	Homo sapiens	P61289	Y2H Array	16713569
Intra	ATN1	P54259	PSME3	Homo sapiens	P61289	Y2H	16713569
Intra	ATN1	P54259	EFEMP1	Homo sapiens	Q12805	Y2H	16713569
Intra	ATN1	P54259	TRIP6	Homo sapiens	Q15654	Pull Down	16713569
Intra	ATN1	P54259	TRIP6	Homo sapiens	Q15654	Y2H Array	16713569
Intra	ATN1	P54259	EFEMP2	Homo sapiens	O95967	Y2H	16713569
Intra	ATN1	P54259	PLEKHA5	Homo sapiens	Q9HAU0	Pull Down	16713569
Intra	ATN1	P54259	PLEKHA5	Homo sapiens	Q9HAU0	Y2H Array	16713569
Intra	ATN1	P54259	RERE	Homo sapiens	Q9P2R6	Y2H	16713569

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	CHEDDA
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
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia Type 12 SCA12 Ataxia, Spinocerebellar, Type 12
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
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
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
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
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
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia Type 35 SCA35 Ataxia, Spinocerebellar, Type 35
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
Myoclonus Epilepsy	Epilepsies, Myoclonic
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
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Spinocerebellar Ataxia 45	SCA45 Spinocerebellar Ataxia Type 45
Holoprosencephaly 5	HPE5 Holoprosencephaly-5 Holoprosencephaly, Type 5
Huntington Disease-Like 1	HDL1 Huntington-Like Neurodegenerative Disorder 1 Hln1 Huntington'S Disease-Like 1 Early-Onset Prion Disease With Prominent Psychiatric Features Huntington-Like Neurodegenerative Disorder, Autosomal Dominant Prion Disease, Early-Onset, With Prominent Psychiatric Features Autosomal Dominant Huntington-Like Neurodegenerative Disorder Huntington Disease-Like, Type 1
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Choreatic Disease	Chorea Hereditary Chorea
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
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]
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01164	ATN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ATN1	VGNC	VGNC:60011
Bos taurus	ATN1	VGNC	VGNC:26269
Mus musculus	ATN1	MGD	MGI:104725
Rattus norvegicus	ATN1	RGD	RGD:61832
Macaca mulatta	ATN1	VGNC	VGNC:70157
Canis familiaris	ATN1	VGNC	VGNC:38234
Others	ATN1	NCBI