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Aliases for ATXN1L Gene

Aliases for ATXN1L Gene

  • Ataxin 1 Like 2 3 5
  • Brother Of Ataxin-1 3 4
  • Brother Of ATXN1 3 4
  • BOAT1 3 4
  • BOAT 3 4
  • Brother Of Ataxin 1 2
  • Ataxin 1-Like 2
  • Ataxin-1-Like 3

External Ids for ATXN1L Gene

Previous GeneCards Identifiers for ATXN1L Gene

  • GC16P070436
  • GC16P071879
  • GC16P057648

Summaries for ATXN1L Gene

CIViC summary for ATXN1L Gene

GeneCards Summary for ATXN1L Gene

ATXN1L (Ataxin 1 Like) is a Protein Coding gene. Diseases associated with ATXN1L include Spinocerebellar Ataxia 1. Gene Ontology (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 (PubMed:21475249). Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity).

Additional gene information for ATXN1L Gene

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

GeneHancer (GH) Regulatory Elements for ATXN1L Gene

Promoters and enhancers for ATXN1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I071844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 117 2.5 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 IST1 ATXN1L MARVELD3 GC16P071851
GH16I072092 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.6 +247.9 247866 3 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B DHX38 TXNL4B ATXN1L IST1 AP1G1 DHODH CMTR2
GH16I070986 Enhancer 1.2 Ensembl ENCODE 22.1 -858.5 -858529 1.1 PKNOX1 ZNF2 FOS KLF13 SP3 REST SMARCA4 GLIS1 NR2C1 NBN SF3B3 PDPR PDXDC2P-NPIPB14P DDX19A LOC400541 EXOSC6 HYDIN DDX19B NPIPB14P PDXDC2P
GH16I071425 Enhancer 1.3 Ensembl ENCODE 19.5 -419.4 -419379 1.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 GC16P071427 LINC02136 TRM-CAT2-1 ZNF23 ZNF19 ENSG00000247324 DHX38 SF3B3 PHLPP2 ATXN1L
GH16I071807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 -36.4 -36351 4.8 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 AP1G1 PHLPP2 DHX38 IST1 TAT-AS1 ATXN1L MARVELD3 CMTR2 ZNF23 LOC100420489
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATXN1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATXN1L gene promoter:

Genomic Locations for ATXN1L Gene

Genomic Locations for ATXN1L Gene
chr16:71,845,991-71,885,268
(GRCh38/hg38)
Size:
39,278 bases
Orientation:
Plus strand
chr16:71,879,894-71,919,174
(GRCh37/hg19)

Genomic View for ATXN1L Gene

Genes around ATXN1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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 (PubMed:16121196). Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1 for RBPJ-binding (PubMed:21475249). Found in a complex with CIC and ATXN1 (By similarity).

neXtProt entry for ATXN1L Gene

Post-translational modifications for ATXN1L Gene

No Post-translational modifications

Other Protein References for ATXN1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATXN1L Gene

Domains & Families for ATXN1L Gene

Gene Families for ATXN1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the ATXN1 family.
Family:
  • Belongs to the ATXN1 family.
genes like me logo Genes that share domains with ATXN1L: view

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 (PubMed:21475249). Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity).

Phenotypes From GWAS Catalog for ATXN1L Gene

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

CRISPR Products

miRNA for ATXN1L Gene

miRTarBase miRNAs that target ATXN1L

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN1L gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATXN1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0030425 dendrite IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ATXN1L: view

Pathways & Interactions 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 by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development IEA --
GO:0007612 learning ISS,IEA --
genes like me logo Genes that share ontologies with ATXN1L: view

No data available for Pathways by source and SIGNOR curated interactions for ATXN1L Gene

Drugs & Compounds for ATXN1L Gene

No Compound Related Data Available

Transcripts for ATXN1L Gene

mRNA/cDNA for ATXN1L Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN1L Gene

Protein differential expression in normal tissues from HIPED for ATXN1L Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATXN1L Gene



Protein tissue co-expression partners for ATXN1L Gene

NURSA nuclear receptor signaling pathways regulating expression of ATXN1L Gene:

ATXN1L

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.

Evidence on tissue expression from TISSUES for ATXN1L Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with ATXN1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ATXN1L 33 34
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia ATXN1L 33 34
  • 93.89 (n)
mouse
(Mus musculus)
Mammalia Atxn1l 33 16 34
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Atxn1l 33
  • 91.02 (n)
cow
(Bos Taurus)
Mammalia ATXN1L 33 34
  • 90.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN1L 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATXN1L 33 34
  • 68.73 (n)
lizard
(Anolis carolinensis)
Reptilia ATXN1L 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn1l 33
  • 58.22 (n)
zebrafish
(Danio rerio)
Actinopterygii atxn1l 33
  • 54.63 (n)
ATXN1L 34
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Atx-1 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K04F10.1 34
  • 25 (a)
OneToMany
Species where no ortholog for ATXN1L was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000151399 -- 71,848,255(+) A/T intron_variant
rs1000382171 -- 71,849,683(+) C/T 5_prime_UTR_variant
rs1000480940 -- 71,848,038(+) C/G 5_prime_UTR_variant
rs1000550586 -- 71,845,543(+) AAAGAAAAGAAAA/AAAGAAAA upstream_transcript_variant
rs1000602918 -- 71,845,277(+) T/C upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv7285 OTHER inversion 18451855
nsv978166 CNV duplication 23825009

Variation tolerance for ATXN1L Gene

Gene Damage Index Score: 7.57; 82.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATXN1L Gene

Human Gene Mutation Database (HGMD)
ATXN1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN1L

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

Disorders for ATXN1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATXN1L Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 1
  • sca1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATXN1L

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

No data available for UniProtKB/Swiss-Prot and Genatlas for ATXN1L Gene

Publications for ATXN1L Gene

  1. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. (PMID: 21475249) Tong X … Tsai CC (EMBO reports 2011) 2 3 4 58
  2. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. (PMID: 16121196) Mizutani A … Tsai CC (The EMBO journal 2005) 2 3 4 58
  3. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. (PMID: 17322884) Bowman AB … Zoghbi HY (Nature genetics 2007) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. ATXN1L, CIC, and ETS Transcription Factors Modulate Sensitivity to MAPK Pathway Inhibition. (PMID: 28178529) Wang B … Hahn WC (Cell reports 2017) 3 58

Products for ATXN1L Gene

Sources for ATXN1L Gene

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