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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATN1 Gene

protein-coding   GIFtS: 53
GCID: GC12P007033

atrophin 1

(Previous name: dentatorubral-pallidoluysian atrophy (atrophin-1) )
(Previous symbols: D12S755E, DRPLA)
 Explore 43 diseases affiliated with
ATN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATN1    

Aliases
for ATN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Atrophin 11 2     HRS2 5
DRPLA1 2 3 5     NOD2 5
D12S755E1 2 3     Dentatorubral-Pallidoluysian Atrophy (Atrophin-1)1
B371 2     Atrophin-11
Dentatorubral-Pallidoluysian Atrophy Protein2 3     

External Ids:    HGNC: 30331   Entrez Gene: 18222   Ensembl: ENSG000001116767   OMIM: 6074625   UniProtKB: P542593   

Export aliases for ATN1 gene to outside databases

Previous GC identifer: GC12P006904


Summaries
for ATN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATN1:
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 7-23 copies to 49-75
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, Feb 2010)

UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259
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 Wiki entry for ATN1


Genomic Views
for ATN1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATN1 gene promoter:
         STAT3   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p

ATN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATN1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P007033:  view genomic region     (about GC identifiers)

Start:
 7,033,626 bp from pter      End:
 7,051,484 bp from pter
Size:
 17,859 bases      Orientation:
 plus strand

Proteins
for ATN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259 (See protein sequence)
Recommended Name: Atrophin-1  
Size: 1190 amino acids; 125414 Da
Subunit: Interacts with NR2E1; the interaction represses the transcriptional activity of NR2E1. Interacts (via its
N-terminus) with FAT1 (via a C-terminus 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
Subcellular location: Nucleus. Cytoplasm, perinuclear region. Cell junction (By similarity). 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
Sequence caution: Sequence=BAA07534.1; Type=Frameshift; Positions=961, 970, 977, 980, 983, 1005;
Secondary accessions: Q99495 Q99621 Q9UEK7

Explore the universe of human proteins at neXtProt for ATN1: NX_P54259

Post-translational modifications:

  • Phosphorylated in vitro by MAPK8/JNK1 on Ser-739. Mutant ATN1 sequences with expanded poly-Asn (polyQ) traits are more
    • slowly phosphorylated1
  • 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-1091
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54259

    • ATN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001007027.1  NP_001931.2  

    ENSEMBL proteins: 
     ENSP00000349076   ENSP00000379915   ENSP00000441744  

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    Novus Biologicals ATN1 Protein
    Novus Biologicals ATN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATN1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10085113
    GO:0005737cytoplasm TAS7647802
    GO:0016363nuclear matrix IDA10973986
    GO:0030054cell junction IEA--
    GO:0031252cell leading edge ----


    ATN1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATN1

    Protein Domains /
    Families
    for ATN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATN1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017993 Atrophin-1
     IPR002951 Atrophin-like

    Graphical View of Domain Structure for InterPro Entry P54259

    ProtoNet protein and cluster: P54259

    1 Blocks protein family: IPB002951 Atrophin signature


    Function
    for ATN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATN1
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    hsa-miR-3679-5p hsa-miR-4307 hsa-miR-92a-1* hsa-miR-944 hsa-miR-410 hsa-miR-1185 hsa-miR-3605-5p hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmid: ATN1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IDA10973986
    GO:0005515protein binding IPI16713569
    GO:0008432JUN kinase binding ----
    GO:0019904protein domain specific binding IPI11984006
    GO:0050827toxin receptor binding IEA--


    ATN1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ATN1: Atn1tm1Rexu Atn1tm1.1Asp
         8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Atn1):
     behavior/neurological  endocrine/exocrine gland  growth/size  mortality/aging  nervous system 
     no phenotypic analysis  normal  reproductive system 

    ATN1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/139 Interacting proteins for ATN1 (P542591, 2, 3 ENSP000003490764) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    REREQ9P2R61, 2, 3, ENSP000003386294EBI-945980,EBI-948076 MINT-2857019 MINT-2858148 MINT-2858167 I2D: score=5 STRING: ENSP00000338629
    EFEMP1Q128051, 2, 3, ENSP000003475964EBI-945980,EBI-536772 MINT-2858856 MINT-2858875 MINT-2858837 I2D: score=2 STRING: ENSP00000347596
    EFEMP2O959671, 2, 3, ENSP000003099534EBI-945980,EBI-743414 MINT-2872547 MINT-2872528 MINT-2872566 I2D: score=2 STRING: ENSP00000309953
    TRIP6Q156541, 2, 3, ENSP000002004574EBI-945980,EBI-742327 MINT-2855063 MINT-2863794 I2D: score=3 STRING: ENSP00000200457
    FBLN1P231422, 3, ENSP000003315444MINT-2858780 MINT-2858761 I2D: score=3 STRING: ENSP00000331544
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA10973986
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007417central nervous system development TAS7647802
    GO:0009404toxin metabolic process IEA--
    GO:0016477cell migration IEA--


    ATN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATN1
    9 Novoseek chemical compound relationships for ATN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nodularin 78.9 15 11478952 (5), 19364091 (3), 17402708 (2), 10991783 (1)
    it 15 75.6 2 18651325 (2)
    glutamine 71.1 15 12488827 (2), 10332031 (2), 9462738 (1), 10085113 (1) (see all 11)
    peptidoglycan 56.4 2 15214025 (1), 17690884 (1)
    glyceraldehyde 3-phosphate 19.7 3 12722924 (1), 9587422 (1)
    testosterone 6.68 2 9535906 (1), 10441327 (1)
    tyrosine 0 2 11514062 (1), 10332026 (1)
    polysaccharide 0 1 12722924 (1)
    cysteine 0 2 10085113 (1)

    Search CenterWatch for drugs/clinical trials and news about ATN1 

    Transcripts
    for ATN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ATN1 gene (2 alternative transcripts): 
    NM_001007026.1  NM_001940.3  

    Unigene Cluster for ATN1:

    Atrophin 1
    Hs.143766  [show with all ESTs]
    Unigene Representative Sequence: BC051795
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356654(uc001qrw.1) ENST00000396684(uc001qrx.1) ENST00000544325(uc001qry.1)
    ENST00000541029 ENST00000537488

    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate ATN1 (see all 10):
    hsa-miR-3679-5p hsa-miR-4307 hsa-miR-92a-1* hsa-miR-944 hsa-miR-410 hsa-miR-1185 hsa-miR-3605-5p hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmid: ATN1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATN1 (see all 7)
    OriGene shRNA RFP: ATN1
    OriGene siRNA: ATN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATN1
    Clone
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    Primer
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    Additional cDNA sequence: 

    BC051795.2 D31840.1 D38529.1 U23851.1 Z22814.1 

    24/27 DOTS entries (see all 27):

    DT.101959877  DT.92467108  DT.418726  DT.95231897  DT.91796877  DT.121157689  DT.95294644  DT.121157943 
    DT.91877167  DT.102841614  DT.75190339  DT.121157858  DT.95255081  DT.100719064  DT.100754521  DT.91700865 
    DT.97854564  DT.121157970  DT.418730  DT.91914861  DT.92001451  DT.95191517  DT.95255061  DT.97809225 

    7 AceView cDNA sequences:

    U23851 NM_001940 D38529 D31840 BC051795 L10377 Z22814 

    GeneLoc Exon Structure


    Expression
    for ATN1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCAACCCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ATN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATN1

    SOURCE GeneReport for Unigene cluster: Hs.143766

    UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259
    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

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    In Situ
    Assay Products:     
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    Orthologs
    for ATN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for ATN1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ATN11 atrophin 1 72.01(n)
    77.33(a)    		   427946  XM_425518.3  XP_425518.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ATN16
    RERE6
    		 --
    		 58(a)
    33(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343453.1(574178-594440)
    GL343334.1(371198-404811)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BQ524935.12   -- 75.7(n)    BQ524935.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii atn16
    		 atrophin 1
    		 20(a)
    		 1 ↔ 1
    		 16(34075847-34090913)


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

    Paralogs
    for ATN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATN1 gene
    MTA32  RERE2  MTA22  MTA12  
    1 SIMAP similar gene for ATN1 using alignment to 2 protein entries:     ATN1_HUMAN (see all proteins):
    RERE

    ATN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATN1
    PGOHUM00000245255


    Genomic Variants
    for ATN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259
    Polymorphism: 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


    10/373 NCBI SNPs in ATN1 are shown (see all 373)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs32134351,2
    		C,F,H,--7031659(+) TAACAG/TTCCAT 2 -- us2k1 int119Minor allele frequency- T:0.18EA NS NA WA CSA 3604
    rs1113117691,2
    		--7031696(+) TATTGC/GTTTTT 2 -- us2k1 int11Minor allele frequency- G:0.00CSA 1
    rs1490441321,2
    		--7031718(+) TTATTG/TATGGC 2 -- us2k1 int10--------
    rs1813322171,2
    		C,--7031985(+) GAGACA/GTGGAA 2 -- us2k1 ut310--------
    rs1444757281,2
    		--7032049(+) CCTGAA/GATCCC 2 -- us2k1 ut310--------
    rs1478518991,2
    		--7032083(+) TTCCCC/TGATTG 2 -- us2k1 ut310--------
    rs1413078091,2
    		--7032132(+) TGTCTC/GTGCTC 2 -- ut31 us2k10--------
    rs760927181,2
    		C,F,--7032185(+) CACTTC/ATTCCT 2 -- ut31 us2k11Minor allele frequency- A:0.03EA 120
    rs2019358021,2
    		--7032235(+) GAGGA-/TTATTA 2 -- ut31 us2k10--------
    rs2019164241,2
    		--7032238(+) GATTA-/TTATAA 2 -- us2k1 ut310--------

    HapMap Linkage Disequilibrium report for ATN1 (7033626 - 7051484 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATN1: --
    Human Gene Mutation Database (HGMD): ATN1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATN1
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    Disorders / Diseases
    for ATN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATN1 for disorders           About GeneDecksing

    OMIM gene information: 607462   
    OMIM disorders: 125370  
    UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259
  • Defects in ATN1 are the cause of dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]. DRPLA is an
    • autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum,
    glogus pallidus and Luys'body. 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

    20/43 diseases for ATN1 (see all 43):    About MalaCards
    dentatorubral-pallidoluysian atrophy    cerebellar ataxia    choreoathetosis    dentatorubro-pallidoluysian atrophy
    machado-joseph disease    jugular foramen meningioma    ataxia    myoclonic cerebellar dyssynergia
    dementia    spinocerebellar ataxia type 7    spinocerebellar ataxia    huntington disease-like
    familial mediterranean fever    status epilepticus    fragile x syndrome    corpus callosum
    amyotrophic lateral sclerosis    myoclonus epilepsy    bipolar i disorder    blau syndrome

    2 diseases from the University of Copenhagen DISEASES database for ATN1:
    dentatorubral-pallidoluysian atrophy     Huntington's disease

    10/14 Novoseek disease relationships for ATN1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    drpla 97.2 102 12722924 (5), 10453742 (4), 15148151 (3), 10085113 (3) (see all 41)
    sca17 92 14 17650485 (2), 18651325 (2), 15148151 (1), 19235102 (1) (see all 7)
    sca12 83.1 6 19235102 (2), 15148151 (1), 17420317 (1)
    spinocerebellar ataxias 81.5 5 10453742 (2), 15148151 (1), 18651325 (1)
    huntington disease 72.7 3 18651325 (2)
    neurodegenerative diseases 66.5 8 15148151 (1), 10085113 (1), 12722924 (1), 12884081 (1) (see all 7)
    epilepsies myoclonic 63 1 14967857 (1)
    ataxias hereditary 61.3 2 17420317 (1)
    machado-joseph disease 59.9 2 17420317 (1)
    spinocerebellar ataxia type 1 57.6 1 9184318 (1)

    GeneTests: ATN1
    DRPLA

    Genetic Association Database (GAD): ATN1
    Human Genome Epidemiology (HuGE) Navigator: ATN1 (9 documents)

    Export disorders for ATN1 gene to outside databases

    Publications
    for ATN1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATN1 gene, integrated from 9 sources (see all 146):
    (articles sorted by number of sources associating them with ATN1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity. (PubMed id 10085113)1, 2, 9 Ellerby L.M....Bredesen D.E. (1999)
    2. Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. (PubMed id 12464607)1, 2, 9 Nucifora F.C....Ross C.A. (2003)
    3. DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. (PubMed id 8965642)1, 2, 9 Margolis R.L.... Ross C.A. (1996)
    4. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)1, 4, 9 Brusco A....Taroni F. (2004)
    5. Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase. (PubMed id 12812981)1, 2, 9 Okamura-Oho Y....Yamada M. (2003)
    6. Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate. (PubMed id 10332026)1, 2, 9 Okamura-Oho Y.... Yamada M. (1999)
    7. Proteolytic processing regulates pathological accumul ation in dentatorubral-pallidoluysian atrophy. (PubMed id 20977674)1, 2 Suzuki Y....Yazawa I. (2010)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations. (PubMed id 11781699)1, 4 Popova S.N....Limborska S.A. (2001)
    10. Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (PubMed id 11807410)1, 4 Savic D....Romac S. (2001)

    External Searches for ATN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing ATN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1822 HGNC: 3033 AceView: DRPLA Ensembl:ENSG00000111676 euGenes: HUgn1822
    ECgene: ATN1 H-InvDB: ATN1

    Other Databases showing ATN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATN1

    Intellectual Property
    for ATN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ATN1 gene:
    Search GeneIP for patents involving ATN1

    GeneCards and IP:
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