Human Gene ATXN1L (uc021tla.1) Description and Page Index
  Description: Homo sapiens ataxin 1-like (ATXN1L), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:71,883,644-71,885,713 Size: 2,070 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr16:71,883,644-71,885,713 Size: 2,070 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesMicroarray Expression
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel Information
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:71,883,644-71,885,713)mRNA (may differ from genome)Protein (689 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaCGAP
Entrez GeneExonPrimerGeneCardsH-INVHGNCHPRD
LynxMGIneXtProtOMIMPubMedStanford SOURCE

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ataxin-1-like; AltName: Full=Brother of ataxin-1; Short=Brother of ATXN1;
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).
SUBUNIT: 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.
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Expressed in cerebellum and cerebral cortex.
SIMILARITY: Belongs to the ATXN1 family.
SIMILARITY: Contains 1 AXH domain.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D003993 Dibutyl Phthalate
  • D005557 Formaldehyde
  • D018817 N-Methyl-3,4-methylenedioxyamphetamine

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013723 - Ataxin-1_HBP1

Pfam Domains:
PF08517 - Ataxin-1 and HBP1 module (AXH)

SCOP Domains:
102031 - AXH domain

ModBase Predicted Comparative 3D Structure on P0C7T5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007420 brain development
GO:0007612 learning
GO:0007613 memory
GO:0030198 extracellular matrix organization
GO:0035176 social behavior
GO:0048286 lung alveolus development
GO:1902035 positive regulation of hematopoietic stem cell proliferation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0030425 dendrite
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  AB621810 - Homo sapiens ATXN1L mRNA for ataxin-1-like, partial cds, clone: HP06971-RBd09G06.
BX537575 - Homo sapiens mRNA; cDNA DKFZp686D05115 (from clone DKFZp686D05115).
BX537596 - Homo sapiens mRNA; cDNA DKFZp686O1195 (from clone DKFZp686O1195).

-  Other Names for This Gene
  Alternate Gene Symbols: ATX1L_HUMAN, BOAT, BOAT1, CCDS45523, NM_001137675, NP_001131147, P0C7T5
UCSC ID: uc021tla.1
Representative RNA: CCDS45523 Protein: P0C7T5 (aka ATX1L_HUMAN)
CCDS: CCDS45523.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: CCDS45523.1
exon count: 1CDS single in 3' UTR: no RNA size: 2070
ORF size: 2070CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4240.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
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