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ATXN3L (ataxin 3 like)

Identity

Alias_namesataxin 3-like
Alias_symbol (synonym)MJDL
Other alias
HGNC (Hugo) ATXN3L
LocusID (NCBI) 92552
Atlas_Id 55837
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 13318649 and ends at 13320399 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATXN3L   24173
Cards
Entrez_Gene (NCBI)ATXN3L  92552  ataxin 3 like
AliasesMJDL
GeneCards (Weizmann)ATXN3L
Ensembl hg19 (Hinxton)ENSG00000123594 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123594 [Gene_View]  chrX:13318649-13320399 [Contig_View]  ATXN3L [Vega]
ICGC DataPortalENSG00000123594
TCGA cBioPortalATXN3L
AceView (NCBI)ATXN3L
Genatlas (Paris)ATXN3L
WikiGenes92552
SOURCE (Princeton)ATXN3L
Genetics Home Reference (NIH)ATXN3L
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN3L  -     chrX:13318649-13320399 -  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN3L  -     Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblATXN3L - Xp22.2 [CytoView hg19]  ATXN3L - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIATXN3L [Mapview hg19]  ATXN3L [Mapview hg38]
OMIM300920   
Gene and transcription
Genbank (Entrez)AB050195 AK302365 BC137186 BC137187 DB059638
RefSeq transcript (Entrez)NM_001135995
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN3L
Cluster EST : UnigeneHs.382641 [ NCBI ]
CGAP (NCI)Hs.382641
Alternative Splicing GalleryENSG00000123594
Gene ExpressionATXN3L [ NCBI-GEO ]   ATXN3L [ EBI - ARRAY_EXPRESS ]   ATXN3L [ SEEK ]   ATXN3L [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN3L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92552
GTEX Portal (Tissue expression)ATXN3L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3M9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3M9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3M9
Splice isoforms : SwissVarQ9H3M9
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusQ9H3M9
Domaine pattern : Prosite (Expaxy)JOSEPHIN (PS50957)    UIM (PS50330)   
Domains : Interpro (EBI)Ataxin-3    Josephin    UIM_dom   
Domain families : Pfam (Sanger)Josephin (PF02099)   
Domain families : Pfam (NCBI)pfam02099   
Domain families : Smart (EMBL)Josephin (SM01246)  UIM (SM00726)  
Conserved Domain (NCBI)ATXN3L
DMDM Disease mutations92552
Blocks (Seattle)ATXN3L
PDB (SRS)3O65   
PDB (PDBSum)3O65   
PDB (IMB)3O65   
PDB (RSDB)3O65   
Structural Biology KnowledgeBase3O65   
SCOP (Structural Classification of Proteins)3O65   
CATH (Classification of proteins structures)3O65   
SuperfamilyQ9H3M9
Human Protein AtlasENSG00000123594
Peptide AtlasQ9H3M9
IPIIPI00023588   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3M9
IntAct (EBI)Q9H3M9
FunCoupENSG00000123594
BioGRIDATXN3L
STRING (EMBL)ATXN3L
ZODIACATXN3L
Ontologies - Pathways
QuickGOQ9H3M9
Ontology : AmiGOthiol-dependent ubiquitin-specific protease activity  nucleus  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  protein deubiquitination  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  
Ontology : EGO-EBIthiol-dependent ubiquitin-specific protease activity  nucleus  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  protein deubiquitination  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkATXN3L
Atlas of Cancer Signalling NetworkATXN3L
Wikipedia pathwaysATXN3L
Orthology - Evolution
OrthoDB92552
GeneTree (enSembl)ENSG00000123594
Phylogenetic Trees/Animal Genes : TreeFamATXN3L
HOVERGENQ9H3M9
HOGENOMQ9H3M9
Homologs : HomoloGeneATXN3L
Homology/Alignments : Family Browser (UCSC)ATXN3L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN3L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN3L
dbVarATXN3L
ClinVarATXN3L
1000_GenomesATXN3L 
Exome Variant ServerATXN3L
ExAC (Exome Aggregation Consortium)ATXN3L (select the gene name)
Genetic variants : HAPMAP92552
Genomic Variants (DGV)ATXN3L [DGVbeta]
DECIPHERATXN3L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN3L 
Mutations
ICGC Data PortalATXN3L 
TCGA Data PortalATXN3L 
Broad Tumor PortalATXN3L
OASIS PortalATXN3L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN3L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN3L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch ATXN3L
DgiDB (Drug Gene Interaction Database)ATXN3L
DoCM (Curated mutations)ATXN3L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN3L (select a term)
intoGenATXN3L
Cancer3DATXN3L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300920   
Orphanet
MedgenATXN3L
Genetic Testing Registry ATXN3L
NextProtQ9H3M9 [Medical]
TSGene92552
GENETestsATXN3L
Huge Navigator ATXN3L [HugePedia]
snp3D : Map Gene to Disease92552
BioCentury BCIQATXN3L
ClinGenATXN3L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92552
Chemical/Pharm GKB GenePA134884147
Clinical trialATXN3L
Miscellaneous
canSAR (ICR)ATXN3L (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN3L
EVEXATXN3L
GoPubMedATXN3L
iHOPATXN3L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:07:18 CEST 2017

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