ATXN1L Gene
protein-coding GIFtS: 40
GCID: GC16P071879
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|
ataxin 1-like
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Aliases
for ATXN1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ataxin 1-Like1 2 | | BOAT11 2 3 | | Brother Of Ataxin-12 3 | | Brother Of ATXN12 3 | | BOAT2 3 | | Ataxin-1-Like1 |
Export aliases for ATXN1L gene to outside databasesPrevious GC identifers: GC16P070436 GC16P057648 |
Summaries
for ATXN1L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5Function: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by actingas a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Cansuppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity)
|
Genomic Views
for ATXN1L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010498.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATXN1L gene promoter:
C/EBPbeta AML1a MyoD STAT5A Gfi-1 AREB6 FAC1 GATA-6 ARP-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN1L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN1L |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q22.2 Ensembl cytogenetic band: 16q22.2 HGNC cytogenetic band: 16q22.3ATXN1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P071879: view genomic region
(about GC identifiers)
Start:
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71,879,894 bp from pter |
End:
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71,919,174 bp from pter |
Size:
|
39,281 bases |
Orientation:
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plus strand |
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Proteins
for ATXN1L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5 (See
protein sequence)Recommended Name: Ataxin-1-like Size: 689 amino acids; 73306 Da
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. Competeswith 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 cellsExplore the universe of human proteins at neXtProt for ATXN1L: NX_P0C7T5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P0C7T5
ATXN1L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001131147.1
ENSEMBL proteins: ENSP00000415822
Human Recombinant Protein Products for ATXN1L:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ATXN1L for ontologies About GeneDecksing
ATXN1L Antibody Products:
Assay Products for ATXN1L: |
Protein
Domains /
Families
for ATXN1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATXN1L for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P0C7T5ProtoNet protein and cluster: P0C7T5 UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5Similarity: Belongs to the ATXN1 familySimilarity: Contains 1 AXH domain |
Function
for ATXN1L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ATX1L_HUMAN, P0C7T5Function: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by actingas a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Cansuppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1) (By similarity) Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
ATXN1L for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for ATXN1L:
8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Atxn1l):
ATXN1L for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Atxn1ltm2.1Hzo for ATXN1L
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN1L (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN1L
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for ATXN1L | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ATXN1L |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1L |
|
Pathways & Interactions
for ATXN1L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATXN1L
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/7 Interacting proteins for ATXN1L (P0C7T52, 3 ENSP000004158224) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- |
ATXN1L for ontologies About GeneDecksing
|
Drugs & Compounds
for ATXN1L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATXN1L
Search CenterWatch for drugs/clinical trials and news about ATXN1L / ATX1L
|
Transcripts
for ATXN1L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATXN1L gene: NM_001137675.3 Unigene Cluster for ATXN1L: Ataxin 1-like Hs.743239 [show with all ESTs]Unigene Representative Sequence: NM_0011376752 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000427980(uc002fbd.2) ENST00000565676
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN1L (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN1L
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATXN1L (NM_001137675) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATXN1L | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ATXN1L |
Additional cDNA sequence: AB621810.1 AK025113.1 AK025339.1 AL833385.1 BC042985.2 BX537575.1 BX537596.1 8 DOTS entries: DT.314637 DT.100025650 DT.120688141 DT.40252465 DT.120688158 DT.100814402 DT.91756744 DT.92063181 1 AceView cDNA sequence: BI003589
GeneLoc Exon Structure
|
Expression
for ATXN1L gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATXN1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTAACTTAA
About this image
See ATXN1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN1L
SOURCE GeneReport for Unigene cluster: Hs.743239
UniProtKB/Swiss-Prot: ATX1L_HUMAN, P0C7T5Tissue specificity: Expressed in cerebellum and cerebral cortex
SABiosciences Custom PCR Arrays for ATXN1L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN1L
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ATXN1L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN1L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN1L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1L |
Orthologs
for ATXN1L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ATXN1L gene from 5/14 species (see all 14) About this table
ENSEMBL Gene Tree for ATXN1L (if available)
TreeFam Gene Tree for ATXN1L (if available) |
Paralogs
for ATXN1L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATXN1L gene
- ATXN12
ATXN1L for paralogs About GeneDecksing
5/8 Pseudogenes.org Pseudogenes for ATXN1L (see all 8)
PGOHUM00000238450 PGOHUM00000238460 PGOHUM00000238472 PGOHUM00000238479 PGOHUM00000238534
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Genomic Variants
for ATXN1L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATXN1L (71879894 - 71919174 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN1L: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN1L |
|
Disorders
/ Diseases
for ATXN1L gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATXN1L for disorders About GeneDecksing
OMIM gene information: 614301
OMIM disorders: --
5  diseases for ATXN1L: About MalaCardsspinocerebellar ataxia acute cholangitis cholangitis ataxia
cerebritis
2 diseases from the University of Copenhagen DISEASES database for ATXN1L:Spinocerebellar ataxia Acute cholangitis Export disorders for ATXN1L gene to outside databases
|
Publications
for ATXN1L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATXN1L gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with ATXN1L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Ataxin-1 and Brother of ataxin-1 are components of th e Notch signalling pathway. (PubMed id 21475249)1, 2, 3 Tong X....Tsai C.C. (2011)
- Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. (PubMed id 16121196)1, 2, 3 Mizutani A....Tsai C.C. (2005)
- Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. (PubMed id 17322884)1, 3 Bowman A.B....Zoghbi H.Y. (2007)
- Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
- The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for ATXN1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATXN1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATXN1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATXN1L gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ATXN1L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATXN1L gene:
Search GeneIP for patents involving ATXN1L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN1L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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 | | | ATXN1L Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN1L |
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