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Aliases for ATN1 Gene

Aliases for ATN1 Gene

  • Atrophin 1 2 3
  • DRPLA 3 4 6
  • Dentatorubral-Pallidoluysian Atrophy Protein 3 4
  • D12S755E 3 4
  • HRS 3 6
  • NOD 3 6
  • Dentatorubral-Pallidoluysian Atrophy (Atrophin-1) 2
  • Atrophin-1 3
  • B37 3

External Ids for ATN1 Gene

Previous Symbols for ATN1 Gene

  • D12S755E
  • DRPLA

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 7-23 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 nodal-related visceral heterotaxy. GO annotations related to this gene include transcription corepressor activity and toxin receptor 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATN1 Gene

Genomics for ATN1 Gene

Genomic Location for ATN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATN1 Gene

Regulatory Elements 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

Proteomics data for ATN1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys947

Other Protein References for ATN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATN1 Gene

Domains for ATN1 Gene

Protein Domains for ATN1 Gene

InterPro:
Blocks:
ProtoNet:
genes like me logo Genes that share domains with ATN1: view

No data available for Gene Families and 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.

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 10973986
GO:0019904 protein domain specific binding IPI 11984006
GO:0050827 toxin receptor binding IEA --
genes like me logo Genes that share ontologies with ATN1: view
genes like me logo Genes that share phenotypes with ATN1: view

Animal Models for ATN1 Gene

MGI Knock Outs for ATN1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for ATN1 Gene COMPARTMENTS Subcellular localization image for ATN1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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 for ATN1 Gene

SuperPathways for ATN1 Gene

No Data Available

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:0007417 central nervous system development TAS 7647802
GO:0009404 toxin metabolic process IEA --
GO:0016477 cell migration IEA --
genes like me logo Genes that share ontologies with ATN1: view

No data available for Pathways by source for ATN1 Gene

Compounds for ATN1 Gene

(9) Novoseek inferred chemical compound relationships for ATN1 Gene

Compound -log(P) Hits PubMed IDs
nodularin 78.9 11
it 15 75.6 2
glutamine 71.1 13
peptidoglycan 56.4 2
glyceraldehyde 3-phosphate 19.7 2
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:

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 for ATN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATN1 Gene

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.
genes like me logo Genes that share expressions with ATN1: view

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 36
  • 99.78 (n)
  • 99.83 (a)
ATN1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATN1 36
  • 90.17 (n)
  • 94.34 (a)
ATN1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATN1 36
  • 90.2 (n)
  • 93.77 (a)
ATN1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atn1 36
  • 87.67 (n)
  • 93.18 (a)
Atn1 16
Atn1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATN1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
ManyToMany
rat
(Rattus norvegicus)
Mammalia Atn1 36
  • 87.76 (n)
  • 93.49 (a)
chicken
(Gallus gallus)
Aves ATN1 36
  • 76.23 (n)
  • 84.72 (a)
ATN1 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATN1 37
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atn1 37
  • 23 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gug 37
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-27 37
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
OneToMany
Species with no ortholog for ATN1:
  • 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

Selected 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

P54259-ATN1_HUMAN
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 MAF
rs1058045 - 6,936,284(+) GGTAT(C/G)GGTGG missense, reference
rs2071075 -- 6,934,323(+) TCTGT(C/T)CTCAG intron-variant
rs2071076 -- 6,940,836(+) TGCCC(C/T)AAACC intron-variant
rs2239167 -- 6,929,604(+) ACTCT(A/G)GGCTG intron-variant
rs3794310 -- 6,934,893(+) TTTTT(G/T)TTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATN1 Gene

Variant ID Type Subtype PubMed ID
nsv832324 CNV Loss 17160897
nsv898641 CNV Loss 21882294
nsv898642 CNV Loss 21882294
nsv509453 CNV Insertion 20534489
nsv826212 CNV Gain 20364138

Relevant External Links for ATN1 Gene

HapMap Linkage Disequilibrium report
ATN1
Human Gene Mutation Database (HGMD)
ATN1

Disorders for ATN1 Gene

(1) OMIM Diseases for ATN1 Gene (607462)

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.

(14) Novoseek inferred disease relationships for ATN1 Gene

Disease -log(P) Hits PubMed IDs
drpla 97.2 65
sca17 92 9
sca12 83.1 4
spinocerebellar ataxias 81.5 4
huntington disease 72.7 2

Relevant External Links for ATN1

GeneTests
ATN1
GeneReviews
ATN1
Genetic Association Database (GAD)
ATN1
Human Genome Epidemiology (HuGE) Navigator
ATN1
genes like me logo Genes that share disorders with ATN1: view

Publications for ATN1 Gene

  1. DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. (PMID: 8965642) Margolis R.L. … Ross C.A. (Brain Res. Mol. Brain Res. 1996) 3 4 23
  2. Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity. (PMID: 10085113) Ellerby L.M. … Bredesen D.E. (J. Biol. Chem. 1999) 3 4 23
  3. Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate. (PMID: 10332026) Okamura-Oho Y. … Yamada M. (Hum. Mol. Genet. 1999) 3 4 23
  4. Nuclear localization of a non-caspase truncation product of atrophin- 1, with an expanded polyglutamine repeat, increases cellular toxicity. (PMID: 12464607) Nucifora F.C. Jr. … Ross C.A. (J. Biol. Chem. 2003) 3 4 23
  5. Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c- Jun NH2-terminal kinase. (PMID: 12812981) Okamura-Oho Y. … Yamada M. (Hum. Mol. Genet. 2003) 3 4 23

Products for ATN1 Gene

Sources for ATN1 Gene

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