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Aliases for ATN1 Gene

Aliases for ATN1 Gene

  • Atrophin 1 2 3 5
  • Dentatorubral-Pallidoluysian Atrophy Protein 3 4
  • D12S755E 3 4
  • DRPLA 3 4
  • Dentatorubral-Pallidoluysian Atrophy (Atrophin-1) 2
  • Atrophin-1 3
  • B37 3
  • HRS 3
  • NOD 3

External Ids for ATN1 Gene

Previous HGNC Symbols for ATN1 Gene

  • D12S755E

Previous GeneCards Identifiers for ATN1 Gene

  • GC12P006904
  • GC12P007033
  • GC12P007009
  • GC12P007069
  • GC12P007188
  • GC12P007268

Summaries for ATN1 Gene

Entrez Gene Summary for ATN1 Gene

  • 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]

GeneCards Summary for ATN1 Gene

ATN1 (Atrophin 1) is a Protein Coding gene. Diseases associated with ATN1 include Dentatorubro-Pallidoluysian Atrophy and Spinocerebellar Ataxia 1. GO annotations related to this gene include protein domain specific binding and toxin receptor binding. An important paralog of this gene is RERE.

UniProtKB/Swiss-Prot for ATN1 Gene

  • Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Asn (polyQ) repeats.

Gene Wiki entry for ATN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATN1 Gene

Genomics for ATN1 Gene

Regulatory Elements for ATN1 Gene

Enhancers for ATN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F006885 0.5 Ensembl ENCODE 12.8 -37.6 -37613 2.6 HDAC1 LEF1 SAP130 SIN3A TEAD3 FOSL1 ZNF121 FOS SMARCE1 TEAD1 SPSB2 ENO2 ATN1 CDCA3 USP5 RNU7-1 C12orf57 EMG1 PHB2 SCARNA12
GH12F006880 1 ENCODE 11.5 -43.6 -43592 1.6 ZFP64 ARID4B DMAP1 ZSCAN9 ZNF354C ZNF138 ZNF202 ZNF680 ZNF654 ZBTB11 ENSG00000219410 SPSB2 ENSG00000247853 C12orf57 SCARNA12 GNB3 NOP2 C1RL-AS1 PHB2 NCAPD2
GH12F006940 0.6 FANTOM5 ENCODE 11.1 +29.2 29196 25.9 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SPSB2 ENSG00000219410 ENSG00000247853 NOP2 NCAPD2 SCARNA12 ENSG00000256967 LOC100419825 LOC100420983 DPPA3
GH12F006923 1 FANTOM5 ENCODE 7.4 +2.7 2688 6.8 HDGF ARID4B SIN3A ZNF2 YY1 ZNF143 FOS DEK PAF1 ZNF263 LRRC23 SCARNA12 ENSG00000219410 ENSG00000247853 RPL13P5 USP5 PHB2 EMG1 SPSB2 NOP2
GH12F006933 0.5 ENCODE 5.9 +9.6 9602 1.2 CTCF ARNT RAD21 ZNF316 ZNF366 POLR2A SMC3 NR2F6 PRDM10 MAFK SPSB2 ATN1 C12orf57
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATN1 on UCSC Golden Path with GeneCards custom track

Promoters for ATN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001774641 1437 201 TBP INSM2 ZNF76 KLF17 SIN3A RAD21 ZNF2 ZEB1 YY1 ZNF121

Genomic Location for ATN1 Gene

6,924,463 bp from pter
6,942,321 bp from pter
17,859 bases
Plus strand

Genomic View for ATN1 Gene

Genes around ATN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATN1 Gene

Proteins for ATN1 Gene

  • Protein details for ATN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q99495
    • Q99621
    • Q9UEK7

    Protein attributes for ATN1 Gene

    1190 amino acids
    Molecular mass:
    125414 Da
    Quaternary structure:
    • Interacts with NR2E1; the interaction represses the transcriptional activity of NR2E1. Interacts (via its N-terminus) with FAT1 (via a C-terminal domain) (By similarity). Interacts with BAIAP2, WWP1, WWP2, WWP3 and RERE. Interacts (via its N-terminus) with MTG8; the interaction enhances transcriptional repression of MTG8. Interacts with PQBP1.
    • Sequence=BAA07534.1; Type=Frameshift; Positions=961, 970, 977, 980, 983, 1005; Evidence={ECO:0000305};

neXtProt entry for ATN1 Gene

Post-translational modifications for ATN1 Gene

  • Phosphorylated in vitro by MAPK8/JNK1 on Ser-739. Mutant ATN1 sequences with expanded poly-Asn (polyQ) traits are more slowly phosphorylated.
  • Proteolytically cleaved, probably in the nucleus, to produce two C-terminal fragments of 140 kDa (F1) and 125 kDa (F2) each containing poly-Asn (polyQ) tracts. F2 is produced by cleavage by caspases and is exported into the cytoplasm. In vitro, cleavage increases with an increase in the number of polyQ tracts. C-terminal proteolytic products appear to be the cause of cell toxicity. In vitro cleavage at Asp-109.
  • Ubiquitination at Lys 947
  • Modification sites at PhosphoSitePlus

Other Protein References for ATN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ATN1 Gene

Domains & Families for ATN1 Gene

Protein Domains for ATN1 Gene

Suggested Antigen Peptide Sequences for ATN1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATN1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ATN1 Gene

Function for ATN1 Gene

Molecular function for ATN1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Asn (polyQ) repeats.

Gene Ontology (GO) - Molecular Function for ATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IDA 10973986
GO:0005515 protein binding IPI 9647693
GO:0019904 protein domain specific binding IPI 11984006
genes like me logo Genes that share ontologies with ATN1: view
genes like me logo Genes that share phenotypes with ATN1: view

Human Phenotype Ontology for ATN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATN1 Gene

MGI Knock Outs for ATN1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATN1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATN1 Gene

Localization for ATN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATN1 Gene

Nucleus. Cytoplasm, perinuclear region. Cell junction. Note=Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Asn (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for ATN1 Gene COMPARTMENTS Subcellular localization image for ATN1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10085113
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 7647802
GO:0016363 nuclear matrix IDA 10973986
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ATN1: view

Pathways & Interactions for ATN1 Gene

SuperPathways for ATN1 Gene

No Data Available

SIGNOR curated interactions for ATN1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10973986
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007417 central nervous system development TAS 7647802
GO:0051402 neuron apoptotic process IDA 10085113
genes like me logo Genes that share ontologies with ATN1: view

No data available for Pathways by source for ATN1 Gene

Drugs & Compounds for ATN1 Gene

(5) Drugs for ATN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for ATN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATN1: view

Transcripts for ATN1 Gene

mRNA/cDNA for ATN1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATN1 Gene

Atrophin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATN1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATN1 Gene

No ASD Table

Relevant External Links for ATN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATN1 Gene

This gene is overexpressed in Adrenal (46.5), Testis (8.0), and Frontal cortex (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATN1 Gene

Protein tissue co-expression partners for ATN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATN1 Gene:


SOURCE GeneReport for Unigene cluster for ATN1 Gene:


mRNA Expression by UniProt/SwissProt for ATN1 Gene:

Tissue specificity: Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus, and thalamus. High levels in fetal tissues, especially brain.
genes like me logo Genes that share expression patterns with ATN1: view

Primer Products

No data available for mRNA differential expression in normal tissues for ATN1 Gene

Orthologs for ATN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATN1 34 35
  • 99.78 (n)
(Canis familiaris)
Mammalia ATN1 34 35
  • 90.2 (n)
(Bos Taurus)
Mammalia ATN1 34 35
  • 90.17 (n)
(Rattus norvegicus)
Mammalia Atn1 34
  • 87.76 (n)
(Mus musculus)
Mammalia Atn1 34 16 35
  • 87.67 (n)
(Monodelphis domestica)
Mammalia ATN1 35
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
(Gallus gallus)
Aves ATN1 34 35
  • 76.23 (n)
(Anolis carolinensis)
Reptilia ATN1 35
  • 68 (a)
(Danio rerio)
Actinopterygii atn1 35
  • 23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gug 35
  • 16 (a)
(Caenorhabditis elegans)
Secernentea egl-27 35
  • 11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
Species where no ortholog for ATN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATN1 Gene

Gene Tree for ATN1 (if available)
Gene Tree for ATN1 (if available)

Paralogs for ATN1 Gene

Paralogs for ATN1 Gene

(1) SIMAP similar genes for ATN1 Gene using alignment to 2 proteins: Pseudogenes for ATN1 Gene

genes like me logo Genes that share paralogs with ATN1: view

Variants for ATN1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATN1 Gene

The poly-Gln region of ATN1 is highly polymorphic (7 to 23 repeats) in the normal population and is expanded to about 49-75 repeats in DRPLA and HRS patients. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

Sequence variations from dbSNP and Humsavar for ATN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs797044566 Likely pathogenic 6,939,141(+) ACTCG(C/T)ACCTG reference, missense
rs11547602 Likely benign 6,936,914(+) CACCT(A/G)CCCCC reference, synonymous-codon
rs7969685 Likely benign 6,937,980(+) CAGCG(A/C)GCGCG reference, synonymous-codon
rs147993402 Uncertain significance 6,935,675(+) ATCTA(C/T)AGCCC reference, synonymous-codon
rs150855426 Uncertain significance 6,936,728(+) CAGCA(A/G)CAGCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ATN1 Gene

Variant ID Type Subtype PubMed ID
nsv1035811 CNV gain 25217958
nsv1047373 CNV gain 25217958
nsv1069636 CNV deletion 25765185
nsv509453 CNV insertion 20534489
nsv557261 CNV loss 21841781
nsv826212 CNV gain 20364138
nsv832324 CNV loss 17160897

Variation tolerance for ATN1 Gene

Residual Variation Intolerance Score: 8.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATN1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for ATN1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ATN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
spinocerebellar ataxia 1
  • spinocerebellar ataxia type 1
spinocerebellar ataxia 17
  • spinocerebellar ataxia type 17
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
autosomal dominant cerebellar ataxia
  • cardiac arrest
- elite association - COSMIC cancer census association via MalaCards
Search ATN1 in MalaCards View complete list of genes associated with diseases


  • Dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luysbody. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ATN1: view

No data available for Genatlas for ATN1 Gene

Publications for ATN1 Gene

  1. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. (PMID: 18651325) SuA8ek-Piatkowska A. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 22 46 64
  2. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 22 46 64
  3. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PMID: 16858508) Costa M.d.o. .C. … Maciel P. (J. Hum. Genet. 2006) 3 22 46 64
  4. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PMID: 15148151) Brusco A. … Taroni F. (Arch. Neurol. 2004) 3 22 46 64
  5. Nuclear localization of a non-caspase truncation product of atrophin- 1, with an expanded polyglutamine repeat, increases cellular toxicity. (PMID: 12464607) Nucifora F.C. Jr. … Ross C.A. (J. Biol. Chem. 2003) 3 4 22 64

Products for ATN1 Gene

Sources for ATN1 Gene

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