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Aliases for ATXN1L Gene

Aliases for ATXN1L Gene

  • Ataxin 1-Like 2 3
  • BOAT1 3 4 6
  • Brother Of Ataxin-1 3 4
  • Brother Of ATXN1 3 4
  • BOAT 3 4
  • Brother Of Ataxin 1 2
  • Ataxin-1-Like 3

External Ids for ATXN1L Gene

Previous GeneCards Identifiers for ATXN1L Gene

  • GC16P070436
  • GC16P071879
  • GC16P057648

Summaries for ATXN1L Gene

GeneCards Summary for ATXN1L Gene

ATXN1L (Ataxin 1-Like) is a Protein Coding gene. GO annotations related to this gene include RNA binding. An important paralog of this gene is ATXN1.

UniProtKB/Swiss-Prot for ATXN1L 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. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN1L Gene

Genomics for ATXN1L Gene

Regulatory Elements for ATXN1L Gene

Genomic Location for ATXN1L Gene

Start:
71,845,991 bp from pter
End:
71,885,268 bp from pter
Size:
39,278 bases
Orientation:
Plus strand

Genomic View for ATXN1L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN1L Gene

Proteins for ATXN1L Gene

  • Protein details for ATXN1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7T5-ATX1L_HUMAN
    Recommended name:
    Ataxin-1-like
    Protein Accession:
    P0C7T5
    Secondary Accessions:

    Protein attributes for ATXN1L Gene

    Size:
    689 amino acids
    Molecular mass:
    73306 Da
    Quaternary structure:
    • Homodimer. Interacts with CIC (By similarity). Interacts (via AXH domain) with NCOR2. Interacts with ATXN1. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1 for RBPJ-binding.

neXtProt entry for ATXN1L Gene

Proteomics data for ATXN1L Gene at MOPED

Post-translational modifications for ATXN1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATXN1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATXN1L Gene

Domains for ATXN1L Gene

Protein Domains for ATXN1L Gene

Suggested Antigen Peptide Sequences for ATXN1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C7T5

UniProtKB/Swiss-Prot:

ATX1L_HUMAN :
  • P0C7T5
Domain:
  • Contains 1 AXH domain.
Family:
  • Belongs to the ATXN1 family.
genes like me logo Genes that share domains with ATXN1L: view

No data available for Gene Families for ATXN1L Gene

Function for ATXN1L Gene

Molecular function for ATXN1L 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. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity).

Gene Ontology (GO) - Molecular Function for ATXN1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 21475249
genes like me logo Genes that share ontologies with ATXN1L: view
genes like me logo Genes that share phenotypes with ATXN1L: view

Animal Models for ATXN1L Gene

MGI Knock Outs for ATXN1L:

Animal Model Products

miRNA for ATXN1L Gene

miRTarBase miRNAs that target ATXN1L

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN1L

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ATXN1L Gene

Localization for ATXN1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN1L Gene

Nucleus. Cell projection, dendrite. Note=Forms nuclear foci. Colocalizes with NCOR2 and HDAC3. Distributed beyond the nucleus into the cell body and dendrites in Purkinje cells and in inferior olive cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN1L Gene COMPARTMENTS Subcellular localization image for ATXN1L gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ATXN1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0030425 dendrite IEA --
GO:0042995 cell projection --
genes like me logo Genes that share ontologies with ATXN1L: view

Pathways for ATXN1L Gene

SuperPathways for ATXN1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATXN1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0030198 extracellular matrix organization IEA --
GO:0048286 lung alveolus development IEA --
genes like me logo Genes that share ontologies with ATXN1L: view

No data available for Pathways by source for ATXN1L Gene

Transcripts for ATXN1L Gene

mRNA/cDNA for ATXN1L Gene

(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATXN1L Gene

Ataxin 1-like:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN1L

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN1L Gene

No ASD Table

Relevant External Links for ATXN1L Gene

GeneLoc Exon Structure for
ATXN1L
ECgene alternative splicing isoforms for
ATXN1L

Expression for ATXN1L Gene

mRNA expression in normal human tissues for ATXN1L Gene

Protein differential expression in normal tissues for ATXN1L Gene

This gene is overexpressed in Ovary (53.2) and Testis (11.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATXN1L Gene

SOURCE GeneReport for Unigene cluster for ATXN1L Gene Hs.743239

mRNA Expression by UniProt/SwissProt for ATXN1L Gene

P0C7T5-ATX1L_HUMAN
Tissue specificity: Expressed in cerebellum and cerebral cortex.
genes like me logo Genes that share expressions with ATXN1L: view

Expression partners for ATXN1L Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATXN1L Gene

Orthologs for ATXN1L Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN1L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATXN1L 35
  • 90.64 (n)
  • 93.01 (a)
ATXN1L 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN1L 35
  • 93.89 (n)
  • 96.36 (a)
ATXN1L 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn1l 35
  • 91.12 (n)
  • 93.89 (a)
Atxn1l 16
Atxn1l 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATXN1L 35
  • 99.35 (n)
  • 99.4 (a)
ATXN1L 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn1l 35
  • 91.02 (n)
  • 92.34 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN1L 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATXN1L 35
  • 68.73 (n)
  • 66.62 (a)
ATXN1L 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN1L 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn1l 35
  • 58.22 (n)
  • 52.74 (a)
zebrafish
(Danio rerio)
Actinopterygii atxn1l 35
  • 54.63 (n)
  • 50.79 (a)
ATXN1L 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Atx-1 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K04F10.1 36
  • 25 (a)
OneToMany
Species with no ortholog for ATXN1L:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ATXN1L Gene

ENSEMBL:
Gene Tree for ATXN1L (if available)
TreeFam:
Gene Tree for ATXN1L (if available)

Paralogs for ATXN1L Gene

Paralogs for ATXN1L Gene

genes like me logo Genes that share paralogs with ATXN1L: view

Variants for ATXN1L Gene

Sequence variations from dbSNP and Humsavar for ATXN1L Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs11008 -- 71,857,107(-) AAACA(A/G)TTACA utr-variant-3-prime
rs746734 -- 71,848,109(+) GAAAA(C/T)ATCTG intron-variant
rs2291945 -- 71,857,296(-) tatat(A/G)gatat utr-variant-3-prime
rs2291946 -- 71,857,294(-) tatag(A/G)tatat utr-variant-3-prime
rs2291947 -- 71,856,586(-) TGAAT(C/G)CAAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATXN1L Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
esv1001782 CNV Insertion 20482838
esv267783 CNV Insertion 20981092

Relevant External Links for ATXN1L Gene

HapMap Linkage Disequilibrium report
ATXN1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN1L Gene

Disorders for ATXN1L Gene

(1) University of Copenhagen DISEASES for ATXN1L Gene

genes like me logo Genes that share disorders with ATXN1L: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships , Genatlas and External Links for ATXN1L Gene

Publications for ATXN1L Gene

  1. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. (PMID: 16121196) Mizutani A. … Tsai C.-C. (EMBO J. 2005) 2 3 4
  2. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. (PMID: 21475249) Tong X. … Tsai C.C. (EMBO Rep. 2011) 2 3 4
  3. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. (PMID: 17322884) Bowman A.B. … Zoghbi H.Y. (Nat. Genet. 2007) 2 3
  4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3
  5. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 4

Products for ATXN1L Gene

Sources for ATXN1L Gene

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