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    ATN1 atrophin 1 [ Homo sapiens (human) ]

    Gene ID: 1822, updated on 25-May-2017
    Official Symbol
    ATN1provided by HGNC
    Official Full Name
    atrophin 1provided by HGNC
    Primary source
    HGNC:HGNC:3033
    See related
    Ensembl:ENSG00000111676 MIM:607462; Vega:OTTHUMG00000169015
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B37; HRS; NOD; DRPLA; D12S755E
    Summary
    Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    12p13.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (6924463..6942321)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7033626..7051484)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 23 Neighboring gene enolase 2 Neighboring gene chromosome 12 open reading frame 57 Neighboring gene RNA, U7 small nuclear 1 Neighboring gene protein tyrosine phosphatase, non-receptor type 6

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    atrophin-1
    Names
    dentatorubral-pallidoluysian atrophy protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008047.1 RefSeqGene

      Range
      5001..22859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007026.1NP_001007027.1  atrophin-1

      See identical proteins and their annotated locations for NP_001007027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC051795, BQ448220, BQ880124, BQ897715
      Consensus CDS
      CCDS31734.1
      UniProtKB/Swiss-Prot
      P54259
      UniProtKB/TrEMBL
      Q86V38
      Related
      ENSP00000349076.3, OTTHUMP00000239930, ENST00000356654.8, OTTHUMT00000401948
      Conserved Domains (1) summary
      pfam03154
      Location:11189
      Atrophin-1; Atrophin-1 family
    2. NM_001940.3NP_001931.2  atrophin-1

      See identical proteins and their annotated locations for NP_001931.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AW411230, BE142829, BQ448220, BQ897715, BQ957462, D31840
      Consensus CDS
      CCDS31734.1
      UniProtKB/Swiss-Prot
      P54259
      Related
      ENSP00000379915.2, OTTHUMP00000239931, ENST00000396684.2, OTTHUMT00000401949
      Conserved Domains (1) summary
      pfam03154
      Location:11189
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      6924463..6942321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      7032499..7050471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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