Aliases for ATXN1L Gene

Aliases for ATXN1L Gene

  • Ataxin 1 Like 2 3 5
  • BOAT1 2 3 4
  • Brother Of Ataxin-1 3 4
  • Brother Of ATXN1 3 4
  • Ataxin-1-Like 3 4
  • BOAT 3 4
  • Brother Of Ataxin 1 2
  • Ataxin 1-Like 2
  • ATXN1L 5

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 and Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Spinocerebellar ataxia and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is ATXN1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ATXN1L Gene

Genomics for ATXN1L Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH16J071844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 610.7 +0.1 145 2.6 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 SIX5 IST1 ATXN1L lnc-IST1-1 lnc-ZNF821-5 DHX38 CMTR2 MARVELD3 AP1G1 NONHSAG019905.2 ZNF821
GH16J071852 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600.4 +9.0 9002 5.6 POLR2A RBFOX2 IKZF2 PKNOX1 EED DPF2 RELB RUNX3 BCLAF1 TCF12 piR-40167 piR-56051 piR-53519 ATXN1L PHLPP2 IST1 MARVELD3 HPR NONHSAG019905.2 lnc-IST1-1
GH16J072092 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 21.6 +247.8 247825 3.6 SP1 CREB1 GATAD2A PRDM10 REST TFE3 RFX1 SIX5 IKZF1 ZNF692 DHX38 TXNL4B DHODH ATXN1L IST1 AP1G1 HP CMTR2
GH16J071807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 19.6 -36.8 -36760 5.6 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 SIX5 LEF1 AP1G1 lnc-ZNF821-3 DHX38 IST1 CMTR2 ATXN1L PHLPP2 TAT-AS1 ZNF19 MARVELD3
GH16J071425 Promoter/Enhancer 1.4 Ensembl ENCODE 19.5 -419.5 -419475 1.8 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 TFE3 SOX13 IKZF1 NFKBIZ KDM1A LINC02136 TRM-CAT2-1 ZNF23 ZNF19 DHX38 SF3B3 ENSG00000247324 PHLPP2 ATXN1L IST1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN1L

Top Transcription factor binding sites by QIAGEN in the ATXN1L gene promoter:
  • AML1a
  • AREB6
  • ARP-1
  • C/EBPbeta
  • FAC1
  • GATA-6
  • Gfi-1
  • MyoD
  • STAT5A

Genomic Locations for ATXN1L Gene

Genomic Locations for ATXN1L Gene
chr16:71,845,976-71,885,268
(GRCh38/hg38)
Size:
39,293 bases
Orientation:
Plus strand
chr16:71,879,894-71,919,174
(GRCh37/hg19)
Size:
39,281 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 (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

  • 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

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:
  • Brother of ataxin-1 (ATX1L_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN1L

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
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1

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 IBA 21873635
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

PathCards logo

SuperPathways for ATXN1L Gene

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

Pathways by source for ATXN1L Gene

2 KEGG pathways for ATXN1L Gene

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:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0007420 brain development IEA --
GO:0007612 learning IEA,ISS --
GO:0007613 memory IEA,ISS --
genes like me logo Genes that share ontologies with ATXN1L: view

No data available for 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 :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN1L

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

No ASD Table

Relevant External Links for ATXN1L Gene

GeneLoc Exon Structure for
ATXN1L

Expression for ATXN1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ATXN1L Gene



Protein tissue co-expression partners for ATXN1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with ATXN1L: view

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 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATXN1L 30 31
  • 93.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atxn1l 30 17 31
  • 91.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atxn1l 30
  • 91.02 (n)
Cow
(Bos Taurus)
Mammalia ATXN1L 30 31
  • 90.64 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATXN1L 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATXN1L 30 31
  • 68.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATXN1L 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atxn1l 30
  • 58.22 (n)
Zebrafish
(Danio rerio)
Actinopterygii atxn1l 30
  • 54.63 (n)
ATXN1L 31
  • 40 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Atx-1 31
  • 33 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K04F10.1 31
  • 25 (a)
OneToMany
Species where no ortholog for ATXN1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ATXN1L: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN1L Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs7194407 - p.Ser313Pro

Additional dbSNP identifiers (rs#s) for ATXN1L Gene

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

(2) MalaCards diseases for ATXN1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 1
  • sca1
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
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
  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
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Transcriptomic analysis of CIC and ATXN1L reveal a functional relationship exploited by cancer. (PMID: 30093628) Wong D … Yip S (Oncogene 2019) 3

Products for ATXN1L Gene

Sources for ATXN1L Gene