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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
  • DRPLA

Previous GeneCards Identifiers for ATN1 Gene

  • GC12P006904
  • GC12P007033
  • GC12P007009
  • GC12P007069
  • GC12P007188
  • GC12P007268
  • GC12P007317
  • GC12P007366

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. 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

Additional gene information for ATN1 Gene

No data available for CIViC summary , 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
GH12H006866 1.4 ENCODE dbSUPER 25.4 -54.2 -54220 8 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 FOS SPSB2 ZNF384 ING4 ENSG00000219410 ATN1 ENSG00000247853 CHD4 P3H3 LOC100419928 NCAPD2
GH12H006826 1.3 ENCODE dbSUPER 25.4 -95.8 -95766 3 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 SP3 MXD4 NFYC ZNF384 ENSG00000219410 CHD4 ENSG00000247853 P3H3 NCAPD2 ATN1 SPSB2 EMG1 SCARNA12
GH12H006722 1.2 ENCODE 20.2 -200.4 -200411 2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF384 CHD4 ENSG00000219410 NOP2 ATN1 ENSG00000247853 NCAPD2 GNB3 SPSB2 CD4
GH12H006321 1.5 Ensembl ENCODE dbSUPER 15.9 -599.4 -599370 6 HDGF PKNOX1 ARNT SIN3A ZNF121 GLIS2 FOS ATF7 DEK JUNB ING4 ATN1 VAMP1 LTBR SCNN1A GNB3 CD27-AS1 TAPBPL P3H3 CD27
GH12H006751 1.1 ENCODE 20.6 -171.3 -171309 2 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 ZNF143 CHD4 ZNF384 ENSG00000247853 ENSG00000219410 ATN1 NOP2 MLF2 EMG1 ENSG00000272173 PEX5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATN1 Gene

Chromosome:
12
Start:
6,924,463 bp from pter
End:
6,942,321 bp from pter
Size:
17,859 bases
Orientation:
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:
    P54259-ATN1_HUMAN
    Recommended name:
    Atrophin-1
    Protein Accession:
    P54259
    Secondary Accessions:
    • Q99495
    • Q99621
    • Q9UEK7

    Protein attributes for ATN1 Gene

    Size:
    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.
    SequenceCaution:
    • 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 Lys947
  • Modification sites at PhosphoSitePlus

Other Protein References for ATN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATN1 Gene

Domains & Families for ATN1 Gene

Gene Families for ATN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for ATN1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATN1
  • Applied Biological Materials Clones for ATN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATN1 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATN1
  • Applied Biological Materials Clones for ATN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for ATN1 Gene

GeneLoc Exon Structure for
ATN1
ECgene alternative splicing isoforms for
ATN1

Expression for ATN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

ATN1

SOURCE GeneReport for Unigene cluster for ATN1 Gene:

Hs.143766

mRNA Expression by UniProt/SwissProt for ATN1 Gene:

P54259-ATN1_HUMAN
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.

Evidence on tissue expression from TISSUES for ATN1 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Eye(2.6)
  • Lung(2.6)
  • Intestine(2.5)
  • Kidney(2.5)
  • Skin(2.3)
  • Spleen(2.3)
  • Muscle(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • lymphatic
  • nervous
Organs:
Head and neck:
  • brain
  • head
General:
  • lymph vessel
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia ATN1 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia ATN1 33 34
  • 90.2 (n)
cow
(Bos Taurus)
Mammalia ATN1 33 34
  • 90.17 (n)
rat
(Rattus norvegicus)
Mammalia Atn1 33
  • 87.76 (n)
mouse
(Mus musculus)
Mammalia Atn1 33 16 34
  • 87.67 (n)
oppossum
(Monodelphis domestica)
Mammalia ATN1 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
ManyToMany
chicken
(Gallus gallus)
Aves ATN1 33 34
  • 76.23 (n)
lizard
(Anolis carolinensis)
Reptilia ATN1 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atn1 34
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gug 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-27 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
OneToMany
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

ENSEMBL:
Gene Tree for ATN1 (if available)
TreeFam:
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.org 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

ATN1_HUMAN-P54259
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)
ATN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATN1

Disorders for ATN1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ATN1 Gene - From: HGMD, 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
early myoclonic encephalopathy
  • epileptic seizures - myoclonic
- elite association - COSMIC cancer census association via MalaCards
Search ATN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATN1_HUMAN
  • 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)
ATN1
Human Genome Epidemiology (HuGE) Navigator
ATN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATN1
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) Sułek-Piatkowska A … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 22 45 60
  2. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 22 45 60
  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 Mdo C … Maciel P (Journal of human genetics 2006) 3 22 45 60
  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 (Archives of neurology 2004) 3 22 45 60
  5. Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase. (PMID: 12812981) Okamura-Oho Y … Yamada M (Human molecular genetics 2003) 3 4 22 60

Products for ATN1 Gene

  • Addgene plasmids for ATN1

Sources for ATN1 Gene

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