Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATXN3 (ataxin 3)

Identity

Other namesAT3
ATX3
JOS
MJD
MJD1
SCA3
HGNC (Hugo) ATXN3
LocusID (NCBI) 4287
Location 14q32.12
Location_base_pair Starts at 92524896 and ends at 92572965 bp from pter ( according to hg19-Feb_2009)
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)ATXN3   7106
Cards
Entrez_Gene (NCBI)ATXN3  4287  ataxin 3
GeneCards (Weizmann)ATXN3
Ensembl (Hinxton)ENSG00000066427 [Gene_View]  chr14:92524896-92572965 [Contig_View]  ATXN3 [Vega]
ICGC DataPortalENSG00000066427
cBioPortalATXN3
AceView (NCBI)ATXN3
Genatlas (Paris)ATXN3
WikiGenes4287
SOURCE (Princeton)NM_001024631 NM_001127696 NM_001127697 NM_001164774 NM_001164776 NM_001164777 NM_001164778 NM_001164779 NM_001164780 NM_001164781 NM_001164782 NM_004993 NM_030660
Genomic and cartography
GoldenPath (UCSC)ATXN3  -  14q32.12   chr14:92524896-92572965 -  14q32.12   [Description]    (hg19-Feb_2009)
EnsemblATXN3 - 14q32.12 [CytoView]
Mapping of homologs : NCBIATXN3 [Mapview]
OMIM109150   607047   
Gene and transcription
Genbank (Entrez)AB050194 AB209309 AK225884 AK307720 AK314919
RefSeq transcript (Entrez)NM_001024631 NM_001127696 NM_001127697 NM_001164774 NM_001164776 NM_001164777 NM_001164778 NM_001164779 NM_001164780 NM_001164781 NM_001164782 NM_004993 NM_030660
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_008198 NT_026437 NW_001838113 NW_004929393
Consensus coding sequences : CCDS (NCBI)ATXN3
Cluster EST : UnigeneHs.532632 [ NCBI ]
CGAP (NCI)Hs.532632
Alternative Splicing : Fast-db (Paris)GSHG0009573
Alternative Splicing GalleryENSG00000066427
Gene ExpressionATXN3 [ NCBI-GEO ]     ATXN3 [ SEEK ]   ATXN3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54252 (Uniprot)
NextProtP54252  [Medical]
With graphics : InterProP54252
Splice isoforms : SwissVarP54252 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)JOSEPHIN (PS50957)    UIM (PS50330)   
Domains : Interpro (EBI)Josephin [organisation]   Ubiquitin-int_motif [organisation]  
Related proteins : CluSTrP54252
Domain families : Pfam (Sanger)Josephin (PF02099)    UIM (PF02809)   
Domain families : Pfam (NCBI)pfam02099    pfam02809   
Domain families : Smart (EMBL)UIM (SM00726)  
DMDM Disease mutations4287
Blocks (Seattle)P54252
PDB (SRS)1YZB    2AGA    2DOS    2JRI    2KLZ   
PDB (PDBSum)1YZB    2AGA    2DOS    2JRI    2KLZ   
PDB (IMB)1YZB    2AGA    2DOS    2JRI    2KLZ   
PDB (RSDB)1YZB    2AGA    2DOS    2JRI    2KLZ   
Human Protein AtlasENSG00000066427 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP54252
HPRD06131
IPIIPI00979068   IPI00219863   IPI00219864   IPI00944599   IPI01026244   IPI01011596   IPI00607670   IPI01010735   IPI01012350   IPI01011943   IPI01019053   IPI00955448   IPI01024774   IPI01026571   IPI01026221   IPI01026345   IPI01026007   IPI00966711   IPI00944500   IPI01025357   IPI01018825   IPI01011093   IPI00895820   IPI00944678   IPI00944484   IPI01018918   IPI00944590   IPI00944542   IPI00944576   IPI00895831   IPI00944530   IPI00982117   
Protein Interaction databases
DIP (DOE-UCLA)P54252
IntAct (EBI)P54252
FunCoupENSG00000066427
BioGRIDATXN3
InParanoidP54252
Interologous Interaction database P54252
IntegromeDBATXN3
STRING (EMBL)ATXN3
Ontologies - Pathways
Ontology : AmiGOmicrotubule cytoskeleton organization  ubiquitin thiolesterase activity  ubiquitin-specific protease activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  misfolded or incompletely synthesized protein catabolic process  synaptic transmission  nervous system development  cell death  omega peptidase activity  regulation of cell-substrate adhesion  nuclear matrix  actin cytoskeleton organization  ubiquitin protein ligase binding  ubiquitin protein ligase binding  monoubiquitinated protein deubiquitination  identical protein binding  proteasome-mediated ubiquitin-dependent protein catabolic process  intermediate filament cytoskeleton organization  ATPase binding  Lys63-specific deubiquitinase activity  protein K63-linked deubiquitination  protein K48-linked deubiquitination  cellular response to misfolded protein  Lys48-specific deubiquitinase activity  
Ontology : EGO-EBImicrotubule cytoskeleton organization  ubiquitin thiolesterase activity  ubiquitin-specific protease activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  misfolded or incompletely synthesized protein catabolic process  synaptic transmission  nervous system development  cell death  omega peptidase activity  regulation of cell-substrate adhesion  nuclear matrix  actin cytoskeleton organization  ubiquitin protein ligase binding  ubiquitin protein ligase binding  monoubiquitinated protein deubiquitination  identical protein binding  proteasome-mediated ubiquitin-dependent protein catabolic process  intermediate filament cytoskeleton organization  ATPase binding  Lys63-specific deubiquitinase activity  protein K63-linked deubiquitination  protein K48-linked deubiquitination  cellular response to misfolded protein  Lys48-specific deubiquitinase activity  
Pathways : KEGGProtein processing in endoplasmic reticulum   
Protein Interaction DatabaseATXN3
Wikipedia pathwaysATXN3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATXN3
snp3D : Map Gene to Disease4287
SNP (GeneSNP Utah)ATXN3
SNP : HGBaseATXN3
Genetic variants : HAPMAPATXN3
Exome VariantATXN3
1000_GenomesATXN3 
ICGC programENSG00000066427 
Somatic Mutations in Cancer : COSMICATXN3 
CONAN: Copy Number AnalysisATXN3 
Mutations and Diseases : HGMDATXN3
Mutations and Diseases : intOGenATXN3
Genomic VariantsATXN3  ATXN3 [DGVbeta]
dbVarATXN3
ClinVarATXN3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM109150    607047   
MedgenATXN3
GENETestsATXN3
Disease Genetic AssociationATXN3
Huge Navigator ATXN3 [HugePedia]  ATXN3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneATXN3
Homology/Alignments : Family Browser (UCSC)ATXN3
Phylogenetic Trees/Animal Genes : TreeFamATXN3
Chemical/Protein Interactions : CTD4287
Chemical/Pharm GKB GenePA134971833
Clinical trialATXN3
Cancer Resource (Charite)ENSG00000066427
Other databases
Probes
Litterature
PubMed205 Pubmed reference(s) in Entrez
CoreMineATXN3
iHOPATXN3
OncoSearchATXN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:40:05 CEST 2014

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