Human Gene ATXN1L (uc002fbd.3) Description and Page Index
  Description: Homo sapiens ataxin 1-like (ATXN1L), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:71,879,894-71,891,236 Size: 11,343 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr16:71,883,644-71,885,713 Size: 2,070 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:71,879,894-71,891,236)mRNA (may differ from genome)Protein (689 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ATX1L_HUMAN
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
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.76 RPKM in Testis
Total median expression: 355.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -136.50293-0.466 Picture PostScript Text
3' UTR -1921.445523-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  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
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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).
JD295071 - Sequence 276095 from Patent EP1572962.
AL833385 - Homo sapiens mRNA; cDNA DKFZp667N0214 (from clone DKFZp667N0214).
JD245646 - Sequence 226670 from Patent EP1572962.
JD112690 - Sequence 93714 from Patent EP1572962.
JD256168 - Sequence 237192 from Patent EP1572962.
JD367906 - Sequence 348930 from Patent EP1572962.
JD132138 - Sequence 113162 from Patent EP1572962.
JD181766 - Sequence 162790 from Patent EP1572962.
JD115390 - Sequence 96414 from Patent EP1572962.
JD419172 - Sequence 400196 from Patent EP1572962.
JD495473 - Sequence 476497 from Patent EP1572962.
JD526865 - Sequence 507889 from Patent EP1572962.
JD192210 - Sequence 173234 from Patent EP1572962.
JD514716 - Sequence 495740 from Patent EP1572962.
JD493494 - Sequence 474518 from Patent EP1572962.
JD292877 - Sequence 273901 from Patent EP1572962.
JD545335 - Sequence 526359 from Patent EP1572962.
JD080769 - Sequence 61793 from Patent EP1572962.
JD309780 - Sequence 290804 from Patent EP1572962.
JD482542 - Sequence 463566 from Patent EP1572962.
JD172306 - Sequence 153330 from Patent EP1572962.
DQ586407 - Homo sapiens piRNA piR-53519, complete sequence.
JD362860 - Sequence 343884 from Patent EP1572962.
JD312791 - Sequence 293815 from Patent EP1572962.
JD359548 - Sequence 340572 from Patent EP1572962.
JD048183 - Sequence 29207 from Patent EP1572962.
JD072686 - Sequence 53710 from Patent EP1572962.
JD088109 - Sequence 69133 from Patent EP1572962.
AK025113 - Homo sapiens cDNA: FLJ21460 fis, clone COL04722.
BC042985 - Homo sapiens hypothetical protein LOC146517, mRNA (cDNA clone IMAGE:5295985).
JD076623 - Sequence 57647 from Patent EP1572962.
JD520736 - Sequence 501760 from Patent EP1572962.
DQ572055 - Homo sapiens piRNA piR-40167, complete sequence.
JD278543 - Sequence 259567 from Patent EP1572962.
JD250831 - Sequence 231855 from Patent EP1572962.
JD148695 - Sequence 129719 from Patent EP1572962.
JD357031 - Sequence 338055 from Patent EP1572962.
JD210120 - Sequence 191144 from Patent EP1572962.
JD304545 - Sequence 285569 from Patent EP1572962.
JD284072 - Sequence 265096 from Patent EP1572962.
JD309728 - Sequence 290752 from Patent EP1572962.
JD452995 - Sequence 434019 from Patent EP1572962.
JD436480 - Sequence 417504 from Patent EP1572962.
JD119664 - Sequence 100688 from Patent EP1572962.
AK025339 - Homo sapiens cDNA: FLJ21686 fis, clone COL09379.
JD563254 - Sequence 544278 from Patent EP1572962.
JD242555 - Sequence 223579 from Patent EP1572962.
DQ588939 - Homo sapiens piRNA piR-56051, complete sequence.
DQ588940 - Homo sapiens piRNA piR-56052, complete sequence.
DQ588941 - Homo sapiens piRNA piR-56053, complete sequence.
JD227492 - Sequence 208516 from Patent EP1572962.
JD325594 - Sequence 306618 from Patent EP1572962.
JD102689 - Sequence 83713 from Patent EP1572962.
JD459559 - Sequence 440583 from Patent EP1572962.
JD341247 - Sequence 322271 from Patent EP1572962.
JD227465 - Sequence 208489 from Patent EP1572962.
JD186148 - Sequence 167172 from Patent EP1572962.
JD439301 - Sequence 420325 from Patent EP1572962.
JD217585 - Sequence 198609 from Patent EP1572962.
JD431704 - Sequence 412728 from Patent EP1572962.
JD528627 - Sequence 509651 from Patent EP1572962.
JD328423 - Sequence 309447 from Patent EP1572962.
JD485386 - Sequence 466410 from Patent EP1572962.
JD304376 - Sequence 285400 from Patent EP1572962.
JD040286 - Sequence 21310 from Patent EP1572962.
JD242045 - Sequence 223069 from Patent EP1572962.
JD214804 - Sequence 195828 from Patent EP1572962.
JD278894 - Sequence 259918 from Patent EP1572962.
JD146442 - Sequence 127466 from Patent EP1572962.
JD410930 - Sequence 391954 from Patent EP1572962.
JD369711 - Sequence 350735 from Patent EP1572962.
JD165137 - Sequence 146161 from Patent EP1572962.
JD273971 - Sequence 254995 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ATX1L_HUMAN, BOAT, BOAT1, NM_001137675, NP_001131147, P0C7T5, uc002fbd.2
UCSC ID: uc002fbd.3
RefSeq Accession: NM_001137675
Protein: P0C7T5 (aka ATX1L_HUMAN)
CCDS: CCDS45523.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001137675.3
exon count: 3CDS single in 3' UTR: no RNA size: 7886
ORF size: 2070CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4090.00frame 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
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.