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    ATN1 atrophin 1 [ Homo sapiens (human) ]

    Gene ID: 1822, updated on 17-Dec-2024

    Summary

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    Official Symbol
    ATN1provided by HGNC
    Official Full Name
    atrophin 1provided by HGNC
    Primary source
    HGNC:HGNC:3033
    See related
    Ensembl:ENSG00000111676 MIM:607462; AllianceGenome:HGNC:3033
    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; CHEDDA; 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]
    Expression
    Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATN1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6924459..6942321)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6935640..6953487)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7033622..7051484)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5890 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:7023548-7023738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024095-7024736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024737-7025376 Neighboring gene enolase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5891 Neighboring gene uncharacterized LOC124902868 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7033606-7034306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7035007-7035706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4194 Neighboring gene atrophin 1 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:7052993-7053572 and GRCh37_chr12:7053573-7054152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7054402-7055012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7055013-7055621 Neighboring gene chromosome 12 open reading frame 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4196 Neighboring gene RNA, U7 small nuclear 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7059817-7060752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7060753-7061686 Neighboring gene protein tyrosine phosphatase non-receptor type 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7061687-7062621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7069919-7070720

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Age-related electrical status epilepticus during sleep and epileptic negative myoclonus in DRPLA. Kobayashi K, et al. Neurology, 2006 Mar 14. PMID 16534126
    2. [Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy]. Li H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2016 Oct. PMID 27577205
    3. Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population. Yapijakis C, et al. In Vivo, 2014 Nov-Dec. PMID 25398822
    4. Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs. Hu J, et al. Biochemistry, 2014 Jul 22. PMID 24981774, Free PMC Article
    5. Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. Ito D, et al. Arch Neurol, 2002 Feb. PMID 11843701

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.
      Title: Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.
    2. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
      Title: CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
    3. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Non-Progressive Neurocognitive Syndrome.
      Title: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
    4. Data indicate that the size of the expanded CAG repeats od dentatorubral-pallidoluysian atrophy protein (DRPLA) was inversely correlated with the age at onset.
      Title: [Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy].
    5. Epigenetic regulation of ATN1 by LSD1 is required for cortical progenitor maintenance.
      Title: Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.
    6. Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
      Title: Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
    7. These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes.
      Title: Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.
    8. results suggest that expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization.
      Title: Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.
    9. This study demonistrated that hypoalbuminemia in early onset DRPLA revealed the possibility of multiorgan involvement.
      Title: Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.
    10. In cerebrum and cerebellum of DRPLA transgenic mouse lines at 4, 8, and 12 weeks it is demonstrated that both the number and expression levels of the altered genes are highly dependent on CAG repeat length and age in both brain regions.
      Title: DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell killing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maintenance of cell polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    atrophin-1
    Names
    dentatorubral-pallidoluysian atrophy protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_008047.2 RefSeqGene

      Range
      8502..22864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007026.2 → NP_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, U47924
      Consensus CDS
      CCDS31734.1
      UniProtKB/Swiss-Prot
      P54259, Q99495, Q99621, Q9UEK7
      UniProtKB/TrEMBL
      Q86V38
      Related
      ENSP00000349076.3, ENST00000356654.8
      Conserved Domains (1) summary
      pfam03154
      Location:1 → 1189
      Atrophin-1; Atrophin-1 family

    2. NM_001424176.1 → NP_001411105.1  atrophin-1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      U47924
      UniProtKB/Swiss-Prot
      P54259, Q99495, Q99621, Q9UEK7
      UniProtKB/TrEMBL
      Q86V38

    3. NM_001424177.1 → NP_001411106.1  atrophin-1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      U47924
      UniProtKB/Swiss-Prot
      P54259, Q99495, Q99621, Q9UEK7
      UniProtKB/TrEMBL
      Q86V38

    4. NM_001424178.1 → NP_001411107.1  atrophin-1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      U47924
      UniProtKB/Swiss-Prot
      P54259, Q99495, Q99621, Q9UEK7
      UniProtKB/TrEMBL
      Q86V38

    5. NM_001424179.1 → NP_001411108.1  atrophin-1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      U47924
      UniProtKB/TrEMBL
      Q86V38

    6. NM_001424180.1 → NP_001411109.1  atrophin-1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      U47924
      UniProtKB/TrEMBL
      Q86V38

    7. NM_001940.4 → NP_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, U47924
      Consensus CDS
      CCDS31734.1
      UniProtKB/Swiss-Prot
      P54259, Q99495, Q99621, Q9UEK7
      UniProtKB/TrEMBL
      Q86V38
      Related
      ENSP00000379915.2, ENST00000396684.3
      Conserved Domains (1) summary
      pfam03154
      Location:1 → 1189
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6924459..6942321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6935640..6953487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54259.3 GenPept UniProtKB/Swiss-Prot:P54259

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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