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Aliases for ATXN1 Gene

Aliases for ATXN1 Gene

  • Ataxin 1 2 3 5
  • Spinocerebellar Ataxia Type 1 Protein 3 4
  • ATX1 3 4
  • SCA1 3 4
  • Spinocerebellar Ataxia 1 (Olivopontocerebellar Ataxia 1, Autosomal Dominant, Ataxin 1) 2
  • Alternative Ataxin1 3
  • D6S504E 3

External Ids for ATXN1 Gene

Previous HGNC Symbols for ATXN1 Gene

  • SCA1

Previous GeneCards Identifiers for ATXN1 Gene

  • GC06M016408

Summaries for ATXN1 Gene

Entrez Gene Summary for ATXN1 Gene

  • The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]

GeneCards Summary for ATXN1 Gene

ATXN1 (Ataxin 1) is a Protein Coding gene. Diseases associated with ATXN1 include spinocerebellar ataxia 1 and spinocerebellar degeneration. Among its related pathways are Akt Signaling and Chks in Checkpoint Regulation. GO annotations related to this gene include identical protein binding and chromatin binding. An important paralog of this gene is ATXN1L.

UniProtKB/Swiss-Prot for ATXN1 Gene

  • Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism.

Gene Wiki entry for ATXN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN1 Gene

Genomics for ATXN1 Gene

Regulatory Elements for ATXN1 Gene

Promoters for ATXN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATXN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATXN1 Gene

Chromosome:
6
Start:
16,299,112 bp from pter
End:
16,761,491 bp from pter
Size:
462,380 bases
Orientation:
Minus strand

Genomic View for ATXN1 Gene

Genes around ATXN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN1 Gene

Proteins for ATXN1 Gene

  • Protein details for ATXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54253-ATX1_HUMAN
    Recommended name:
    Ataxin-1
    Protein Accession:
    P54253
    Secondary Accessions:
    • Q17S02
    • Q9UJG2
    • Q9Y4J1

    Protein attributes for ATXN1 Gene

    Size:
    815 amino acids
    Molecular mass:
    86923 Da
    Quaternary structure:
    • Homooligomer (PubMed:9097953). Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L, USP7 and ZNF804A (PubMed:9353121, PubMed:11001934, PubMed:12062018, PubMed:12093161, PubMed:16121196, PubMed:16713569). Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding (PubMed:21475249).
    Miscellaneous:
    • Self-association seems to be necessary for formation of nuclear aggregates which are associated with pathogenesis.

    Three dimensional structures from OCA and Proteopedia for ATXN1 Gene

    Alternative splice isoforms for ATXN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN1 Gene

Proteomics data for ATXN1 Gene at MOPED

Post-translational modifications for ATXN1 Gene

  • Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract.
  • Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.
  • Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of expanded poly-Gln repeats in spinocerebellar ataxia 1 (SCA1) patients impairs ubiquitination and degradation, leading to accumulation of ATXN1 in neurons and subsequent toxicity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATXN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATXN1 (ataxin-1)

No data available for DME Specific Peptides for ATXN1 Gene

Domains & Families for ATXN1 Gene

Gene Families for ATXN1 Gene

Protein Domains for ATXN1 Gene

Suggested Antigen Peptide Sequences for ATXN1 Gene

Graphical View of Domain Structure for InterPro Entry

P54253

UniProtKB/Swiss-Prot:

ATX1_HUMAN :
  • The AXH domain is required for interaction with CIC.
  • Belongs to the ATXN1 family.
Domain:
  • The AXH domain is required for interaction with CIC.
  • Contains 1 AXH domain.
Family:
  • Belongs to the ATXN1 family.
genes like me logo Genes that share domains with ATXN1: view

Function for ATXN1 Gene

Molecular function for ATXN1 Gene

UniProtKB/Swiss-Prot Function:
Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism.
UniProtKB/Swiss-Prot Induction:
ATXN1 protein levels are directly regulated by PUM1 protein: PUM1 acts by binding to the 3-UTR of ATXN1 mRNA, affecting ATXN1 mRNA stability and leading to reduced ATXN1 protein levels.

Gene Ontology (GO) - Molecular Function for ATXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 11001934
GO:0008022 protein C-terminus binding IPI 12757932
GO:0008266 poly(U) RNA binding IDA 11136710
GO:0043621 protein self-association IDA 9097953
genes like me logo Genes that share ontologies with ATXN1: view
genes like me logo Genes that share phenotypes with ATXN1: view

Human Phenotype Ontology for ATXN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATXN1 Gene

MGI Knock Outs for ATXN1:

Animal Model Products

miRNA for ATXN1 Gene

miRTarBase miRNAs that target ATXN1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATXN1 Gene

Localization for ATXN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN1 Gene

Cytoplasm. Nucleus. Note=Colocalizes with USP7 in the nucleus. {ECO:0000269 PubMed:12093161}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN1 Gene COMPARTMENTS Subcellular localization image for ATXN1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ATXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 7647801
GO:0042272 colocalizes_with nuclear RNA export factor complex IDA 15615787
genes like me logo Genes that share ontologies with ATXN1: view

Pathways & Interactions for ATXN1 Gene

genes like me logo Genes that share pathways with ATXN1: view

Pathways by source for ATXN1 Gene

2 Qiagen pathways for ATXN1 Gene

Gene Ontology (GO) - Biological Process for ATXN1 Gene

None

No data available for SIGNOR curated interactions for ATXN1 Gene

Drugs & Compounds for ATXN1 Gene

(2) Drugs for ATXN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ATXN1: view

Transcripts for ATXN1 Gene

Unigene Clusters for ATXN1 Gene

Ataxin 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1:
SP2: - -
SP3: -
SP4:

Relevant External Links for ATXN1 Gene

GeneLoc Exon Structure for
ATXN1
ECgene alternative splicing isoforms for
ATXN1

Expression for ATXN1 Gene

mRNA expression in normal human tissues for ATXN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATXN1 Gene

This gene is overexpressed in Platelet (42.3), CD8 Tcells (10.9), Uterus (8.4), and Fetal heart (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATXN1 Gene



SOURCE GeneReport for Unigene cluster for ATXN1 Gene Hs.434961

mRNA Expression by UniProt/SwissProt for ATXN1 Gene

P54253-ATX1_HUMAN
Tissue specificity: Widely expressed throughout the body.
genes like me logo Genes that share expression patterns with ATXN1: view

Protein tissue co-expression partners for ATXN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ATXN1 Gene

Orthologs for ATXN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATXN1 35
  • 85.44 (n)
  • 86.33 (a)
ATXN1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN1 35
  • 89.3 (n)
  • 90.77 (a)
SCA1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn1 35
  • 86.24 (n)
  • 89.62 (a)
Atxn1 16
Atxn1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATXN1 35
  • 99.34 (n)
  • 99.26 (a)
ATXN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn1 35
  • 86.52 (n)
  • 90.11 (a)
oppossum
(Monodelphis domestica)
Mammalia ATXN1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN1 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATXN1 35
  • 80.14 (n)
  • 82.11 (a)
ATXN1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn1 35
  • 69.01 (n)
  • 71.71 (a)
zebrafish
(Danio rerio)
Actinopterygii atxn1a 35
  • 60.04 (n)
  • 55.18 (a)
ATXN1 (4 of 4) 36
  • 23 (a)
OneToMany
atxn1a 36
  • 46 (a)
OneToMany
atxn1b 36
  • 35 (a)
OneToMany
CABZ01052953.2 36
  • 27 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Atx-1 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K04F10.1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7218 36
  • 45 (a)
OneToOne
Species with no ortholog for ATXN1:
  • 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)
  • wheat (Triticum aestivum)

Evolution for ATXN1 Gene

ENSEMBL:
Gene Tree for ATXN1 (if available)
TreeFam:
Gene Tree for ATXN1 (if available)

Paralogs for ATXN1 Gene

Paralogs for ATXN1 Gene

genes like me logo Genes that share paralogs with ATXN1: view

Variants for ATXN1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN1 Gene

P54253-ATX1_HUMAN
The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients.

Sequence variations from dbSNP and Humsavar for ATXN1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs11969612 - 16,327,684(+) TGCTG(A/C)TGCTG reference, missense
rs16885 - 16,306,520(-) GATTG(C/G/T)CTGCA reference, missense
rs2927 -- 16,757,881(-) CTGAT(A/G)AAGCT intron-variant
rs3401 -- 16,302,247(-) GGAAC(C/T)TTTCA utr-variant-3-prime
rs171053 -- 16,526,531(-) CGCCT(C/T)GGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN1 Gene

Variant ID Type Subtype PubMed ID
nsv5211 CNV Insertion 18451855
esv2731623 CNV Deletion 23290073
nsv462643 CNV Gain 19166990
esv2731624 CNV Deletion 23290073
nsv5212 CNV Insertion 18451855
esv2731625 CNV Deletion 23290073
esv22347 CNV Gain 19812545
esv2657399 CNV Deletion 23128226

Variation tolerance for ATXN1 Gene

Residual Variation Intolerance Score: 8.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 57.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN1 Gene

HapMap Linkage Disequilibrium report
ATXN1
Human Gene Mutation Database (HGMD)
ATXN1

Disorders for ATXN1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ATXN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 1
  • spinocerebellar ataxia type 1
spinocerebellar degeneration
  • spinocerebellar degenerations
ataxia
hereditary ataxia
  • cardiac arrest
autosomal dominant cerebellar ataxia
  • cardiac arrest
- elite association - COSMIC cancer census association via MalaCards
Search ATXN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATX1_HUMAN
  • Spinocerebellar ataxia 1 (SCA1) [MIM:164400]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269 PubMed:7647801, ECO:0000269 PubMed:7951322, ECO:0000269 PubMed:8634720}. Note=The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by expansion of the polyglutamine tract to about 40-83 repeats, causing accumulation in neurons and exerting toxicity. {ECO:0000269 PubMed:7647801, ECO:0000269 PubMed:8634720}.

Relevant External Links for ATXN1

Genetic Association Database (GAD)
ATXN1
Human Genome Epidemiology (HuGE) Navigator
ATXN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN1
genes like me logo Genes that share disorders with ATXN1: view

No data available for Genatlas for ATXN1 Gene

Publications for ATXN1 Gene

  1. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. (PMID: 9353121) Matilla A. … Zoghbi H.Y. (Nature 1997) 3 4 23 67
  2. Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein. (PMID: 20097758) Zhang C. … Tanzi R.E. (J. Biol. Chem. 2010) 3 23
  3. Oxidative stress-enhanced SUMOylation and aggregation of ataxin-1: Implication of JNK pathway. (PMID: 20132795) Ryu J. … Lee d.o. .H. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. (PMID: 19208651) Parfitt D.A. … Chapple J.P. (Hum. Mol. Genet. 2009) 3 23
  5. Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. (PMID: 19597981) Lai Y.C. … Li S.Y. (J. Assist. Reprod. Genet. 2009) 3 23

Products for ATXN1 Gene

Sources for ATXN1 Gene

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