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ATN1 Gene

protein-coding   GIFtS: 58
GCID: GC12P007033

Atrophin 1

(Previous name: dentatorubral-pallidoluysian atrophy (atrophin-1))
(Previous symbols: D12S755E, DRPLA)
  See ATN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Atrophin 11 2     NOD2 5
DRPLA1 2 3 5     Dentatorubral-Pallidoluysian Atrophy (Atrophin-1)1
D12S755E1 2 3     B372
Dentatorubral-Pallidoluysian Atrophy Protein2 3     atrophin-12
HRS2 5     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 7-23
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)

GeneCards Summary for ATN1 Gene:
ATN1 (atrophin 1) is a protein-coding gene. Diseases associated with ATN1 include jugular foramen meningioma, and dentatorubral-pallidoluysian atrophy. GO annotations related to this gene include transcription corepressor activity and toxin receptor binding. An important paralog of this gene is MTA3.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_009759.17  
Regulatory elements:
   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 Chromatin IP Primers for ATN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for ATN1 at MOPED

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
  • Ubiquitination2 at Lys947
  • Modification sites at PhosphoSitePlus

  • See ATN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000349076   ENSP00000379915  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR017993 Atrophin-1
     IPR002951 Atrophin-like

    Graphical View of Domain Structure for InterPro Entry P54259

    ProtoNet protein and cluster: P54259

    1 Blocks protein domain: IPB002951 Atrophin signature


    Find genes that share domains with ATN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IDA10973986
    GO:0005515protein binding IPI10973986
    GO:0019904protein domain specific binding IPI11984006
    GO:0050827toxin receptor binding IEA--
         
    Find genes that share ontologies with ATN1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atn1):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  mortality/aging  nervous system 
     no phenotypic analysis  normal  reproductive system 

    Find genes that share phenotypes with ATN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ATN1: Atn1tm1Rexu Atn1tm1.1Asp

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATN1
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    miRTarBase miRNAs that target ATN1:
    hsa-mir-149-5p (MIRT045454), hsa-mir-361-3p (MIRT038277), hsa-mir-27b-3p (MIRT046183), hsa-mir-423-5p (MIRT038080), hsa-mir-25-3p (MIRT050303), hsa-mir-320b (MIRT036202), hsa-mir-27a-3p (MIRT050031), hsa-mir-615-3p (MIRT040408), hsa-mir-505-5p (MIRT037953), hsa-mir-484 (MIRT042044)

    Block miRNA regulation of human, mouse, rat ATN1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidATN1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATN1_HUMAN, P54259: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular2
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm TAS7647802
    GO:0016363nuclear matrix IDA10973986
    GO:0030054cell junction IEA--

    Find genes that share ontologies with ATN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATN1
    Interactions:

        GeneGlobe Interaction Network for ATN1

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

    Selected Interacting proteins for ATN1 (P542591, 2, 3 ENSP000003490764) via UniProtKB, MINT, STRING, and/or I2D (see all 167)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3, ENSP000003651314MINT-2864594 MINT-2864575 I2D: score=3 STRING: ENSP00000365131
    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
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

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

    Find genes that share ontologies with ATN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATN1

    9 Novoseek inferred 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)



    Find genes that share compounds with ATN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356654(uc001qrw.1) ENST00000396684(uc001qrx.1) ENST00000541029
    ENST00000537488
    miRNA
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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
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    Additional mRNA sequence: 

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

    Selected 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:

    NM_001940 U23851 D38529 BC051795 D31840 Z22814 L10377 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAACCCCT
    ATN1 Expression
    About this image


    ATN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Ovary (Reproductive System)
     
     Adipose (Muscoskeletal System)
     
     Adrenal Gland (Endocrine System)
    ATN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATN1 Protein Expression

    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATN1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atn11 , 5 atrophin 11, 5 87.67(n)1
    93.18(a)1
      6 (59.17 cM)5
    134981  NM_007881.41  NP_031907.21 
     1247391895 
    chicken
    (Gallus gallus)
    Aves ATN11 atrophin 1 76.23(n)
    84.72(a)
      427946  XM_425518.4  XP_425518.4 
    lizard
    (Anolis carolinensis)
    Reptilia ATN16
    atrophin 1
    68(a)
    1 ↔ 1
    GL343453.1(574178-599100)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ524935.12   -- 75.7(n)    BQ524935.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atn16
    atrophin 1
    23(a)
    1 ↔ 1
    16(34075847-34090913) ENSDARG00000092067
    fruit fly
    (Drosophila melanogaster)
    Insecta Gug6
    Grunge
    16(a)
    1 → many
    3L(8443022-8465769)
    worm
    (Caenorhabditis elegans)
    Secernentea egl-276
    Protein EGL-27, isoform a
    11(a)
    1 → many
    II(6835081-6847908) WBGene00001194


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

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

    Find genes that share paralogs with ATN1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATN1
    PGOHUM00000245255


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for ATN1 (see all 407)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478419411,2
    C--6966666(+) AACTGC/G/TTGGTG 1 -- us2k10--------
    rs116085351,2
    C,H--6966700(+) CGGCCA/C/GGGAGC 1 -- us2k17NA EA CSA WA 513
    rs72968181,2
    C,F,A,H--7033382(+) GGAACA/CAAAGT 1 -- us2k119Minor allele frequency- C:0.08NS EA NA WA CSA 2340
    rs1163932681,2
    F--7033448(+) GAGACG/ATACTA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1919971011,2
    --7033519(+) TACCCC/TCGAGG 1 -- us2k10--------
    rs73109411,2
    C,F,A,H--7033592(+) TGGGAG/AATCTA 1 -- us2k121Minor allele frequency- A:0.08NS EA NA WA CSA 2346
    rs1161306081,2
    C,F--7033684(+) CTCCCG/ACTCTG 1 -- ut511Minor allele frequency- A:0.05WA 118
    rs73037221,2
    C,F,A,H--7033823(+) AGCCAT/CTTTCA 1 -- int121Minor allele frequency- C:0.30NS EA NA WA CSA 2347
    rs1124447511,2
    C--7033902(+) CCTTTTCTC    
       CTG
    /-
    TCTCC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs740572201,2
    C,F--7033959(+) TGCCTC/TTCAGT 1 -- int14Minor allele frequency- T:0.09WA CSA EA 242

    HapMap Linkage Disequilibrium report for ATN1 (7033626 - 7051484 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ATN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509453CNV Insertion20534489
    nsv898642CNV Loss21882294
    nsv898641CNV Loss21882294
    nsv832324CNV Loss17160897
    nsv826212CNV Gain20364138

    Human Gene Mutation Database (HGMD): ATN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATN1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATN1

    (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.)
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    OMIM gene information: 607462   
    OMIM disorders: 125370  
    UniProtKB/Swiss-Prot: ATN1_HUMAN, P54259
  • Dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]: 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 11 diseases for ATN1:    
    About MalaCards
    jugular foramen meningioma    dentatorubral-pallidoluysian atrophy    hypotrichosis-lymphedema-telangiectasia syndrome    machado-joseph disease
    spinocerebellar ataxia type 7    cerebellar ataxia    blau syndrome    bipolar i disorder
    dementia    huntington's disease    schizophrenia

    4 diseases from the University of Copenhagen DISEASES database for ATN1:
    dentatorubral-pallidoluysian atrophy     Jugular foramen meningioma     Barrett's esophagus     Blau syndrome

    Find genes that share disorders with ATN1           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: ATN1
    Genetic Association Database (GAD): ATN1
    Human Genome Epidemiology (HuGE) Navigator: ATN1 (9 documents)

    Export disorders for ATN1 gene to outside databases

    (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)
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    PubMed articles for ATN1 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with ATN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 18651325)1, 4, 9 SuA8ek-Piatkowska A....Zaremba J. (Neurol. Neurochir. Pol. 2008)
    2. Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity. (PubMed id 10085113)1, 2, 9 Ellerby L.M.... Bredesen D.E. (J. Biol. Chem. 1999)
    3. 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. Jr....Ross C.A. (J. Biol. Chem. 2003)
    4. DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. (PubMed id 8965642)1, 2, 9 Margolis R.L.... Ross C.A. (Brain Res. Mol. Brain Res. 1996)
    5. 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. (PubMed id 16858508)1, 4, 9 Costa M.d.o. .C....Maciel P. (J. Hum. Genet. 2006)
    6. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PubMed id 19235102)1, 4, 9 Rajkiewicz M....Zaremba J. (Neurol. Neurochir. Pol. 2008)
    7. 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. (Arch. Neurol. 2004)
    8. Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c- Jun NH2-terminal kinase. (PubMed id 12812981)1, 2, 9 Okamura-Oho Y.... Yamada M. (Hum. Mol. Genet. 2003)
    9. 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. (Hum. Mol. Genet. 1999)
    10. Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy. (PubMed id 20977674)1, 2 Suzuki Y.... Yazawa I. (FEBS J. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATN1[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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