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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

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

Enhancers for ATXN1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F070986 0.9 Ensembl ENCODE 22.4 -858.5 -858491 1.4 PKNOX1 ZNF133 GLI4 ZNF2 FOS SP3 YY2 REST TSHZ1 ZNF518A SF3B3 PDPR LOC400541 ATXN1L EXOSC6 PDXDC2P NPIPB14P ENSG00000261513 AP1G1 ENSG00000247324
GH16F072092 1 ENCODE 12.3 +247.9 247867 3.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 DHX38 DHODH ATXN1L ENSG00000272250 TXNL4B
GH16F071870 0.3 FANTOM5 12.2 +24.4 24443 0.1 ZNF121 PRDM10 ATXN1L IST1 ZNF821 PHLPP2 PIR47406 ENSG00000261765
GH16F071019 0.2 ENCODE 11.5 -826.6 -826649 0.6 PKNOX1 ZNF133 SIN3A FEZF1 RAD21 ZNF302 ZNF366 SCRT2 RCOR1 ZNF548 LOC400541 PDPR SF3B3 ATXN1L ENSG00000247324 ENSG00000259833 RNU6ATAC25P
GH16F071807 0.2 ENCODE 10.5 -36.4 -36352 4.8 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PHLPP2 TAT-AS1 AP1G1 ATXN1L MARVELD3 ENSG00000247324 LINC01572 ZNF23 LOC100420489
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATXN1L on UCSC Golden Path with GeneCards custom track

Promoters for ATXN1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000509715 109 1801 HDGF MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS KLF13 SP3

Genomic Location for ATXN1L Gene

Chromosome:
16
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

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. 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

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 & Families 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 :
  • Contains 1 AXH domain.
  • Belongs to the ATXN1 family.
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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 IEA,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 from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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 and SIGNOR curated interactions for ATXN1L Gene

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:

Inhibitory RNA Products

Clone Products

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 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.
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 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
chimpanzee
(Pan troglodytes)
Mammalia ATXN1L 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia ATXN1L 34 35
  • 93.89 (n)
mouse
(Mus musculus)
Mammalia Atxn1l 34 16 35
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Atxn1l 34
  • 91.02 (n)
cow
(Bos Taurus)
Mammalia ATXN1L 34 35
  • 90.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN1L 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATXN1L 34 35
  • 68.73 (n)
lizard
(Anolis carolinensis)
Reptilia ATXN1L 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn1l 34
  • 58.22 (n)
zebrafish
(Danio rerio)
Actinopterygii atxn1l 34
  • 54.63 (n)
ATXN1L 35
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Atx-1 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K04F10.1 35
  • 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 Sequence Context AA Info Type
rs10852505 -- 71,847,434(+) TGCTC(A/T)TTTTT intron-variant
rs11008 -- 71,857,107(-) AAACA(A/G)TTACA utr-variant-3-prime
rs111509860 -- 71,855,159(+) CCTGT(A/G)TTAGG utr-variant-3-prime
rs111748346 -- 71,847,148(+) GTTTG(A/G)GTTGA intron-variant
rs111750718 -- 71,848,330(+) AGATA(C/T)GGGGA intron-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)

Relevant External Links for ATXN1L Gene

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

Relevant External Links for ATXN1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN1L

No disorders were found for ATXN1L Gene.

No data available for MalaCards , 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 C.C. (EMBO Rep. 2011) 2 3 4 64
  2. 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 64
  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 64
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64

Products for ATXN1L Gene

Sources for ATXN1L Gene

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