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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATXN3L Gene

protein-coding   GIFtS: 48
GCID: GC0XM013336

Ataxin 3-Like

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ataxin 3-Like1 2     ATX3L3
Machado-Joseph Disease Protein 1-Like2 3     EC 3.4.19.123
MJDL2 3     EC 3.4.228
Putative Ataxin-3-Like Protein2     

External Ids:    HGNC: 241731   Entrez Gene: 925522   Ensembl: ENSG000001235947   UniProtKB: Q9H3M93   

Export aliases for ATXN3L gene to outside databases

Previous GC identifers: GC0XM013096 GC0XM013246 GC0XM011098


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATXN3L Gene:
This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which
encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the
gene encoding ataxin 3 are associated with Machado-Joseph disease. (provided by RefSeq, Sep 2011)

GeneCards Summary for ATXN3L Gene: 
ATXN3L (ataxin 3-like) is a protein-coding gene. Diseases associated with ATXN3L include machado-joseph disease. GO annotations related to this gene include ubiquitin-specific protease activity and omega peptidase activity. An important paralog of this gene is ATXN3.

UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9
Function: Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in
vitro)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATXN3L gene promoter:
         POU2F2 (Oct-2.1)   c-Fos   AP-1   POU3F1   Pax-2   Pax-2a   POU2F2   POU2F1a   c-Jun   POU2F2B   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ATXN3L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN3L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

ATXN3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN3L gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM013336:  view genomic region     (about GC identifiers)

Start:
13,336,766 bp from pter      End:
13,338,518 bp from pter
Size:
1,753 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9 (See protein sequence)
Recommended Name: Putative ataxin-3-like protein  
Size: 355 amino acids; 40747 Da
Subcellular location: Nucleus (By similarity)
Caution: Could be the product of a pseudogene. Suggested by the absence of intron
1 PDB 3D structure from and Proteopedia for ATXN3L:
3O65 (3D)    
Secondary accessions: B2RNY8

Explore the universe of human proteins at neXtProt for ATXN3L: NX_Q9H3M9

Explore proteomics data for ATXN3L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H3M9

  • 4/5 DME Specific Peptides for ATXN3L (Q9H3M9) (see all 5)
     IFHEKQEG  WFNLNSLL  GPELISDT  FVVKGDLPDCEADQLLQ 

    ATXN3L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATXN3L Protein Expression
    REFSEQ proteins: NP_001129467.1  
    ENSEMBL proteins: 
     ENSP00000369996  

    Human Recombinant Protein Products for ATXN3L: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATXN3L 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    ATXN3L for ontologies           About GeneDecksing



    ATXN3L Antibody Products: 
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    Assay Products for ATXN3L: 
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    Cloud-Clone Corp. ELISAs for ATXN3L 
    Cloud-Clone Corp. CLIAs for ATXN3L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006155 Josephin
     IPR003903 Ubiquitin-int_motif

    Graphical View of Domain Structure for InterPro Entry Q9H3M9

    ProtoNet protein and cluster: Q9H3M9

    2 Blocks protein domains:
    IPB003903 Ubiquitin interacting motif
    IPB006155 Josephin signature


    UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9
    Similarity: Contains 1 Josephin domain
    Similarity: Contains 2 UIM (ubiquitin-interacting motif) repeats


    ATXN3L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATX3L_HUMAN, Q9H3M9
    Function: Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in
    vitro)
    Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by
    the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

         Enzyme Numbers (IUBMB): EC 3.4.222 EC 3.4.19.121

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004843ubiquitin-specific protease activity IDA--
    GO:0008242omega peptidase activity IEA--
         
    ATXN3L for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATXN3L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATXN3L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATXN3L 
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    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3L


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATXN3L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for ATXN3L):
        Protein processing in endoplasmic reticulum


    ATXN3L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATXN3L

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for ATXN3L (Q9H3M93 ENSP000003699964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    UBA52ENSP000003881074STRING: ENSP00000388107
    STUB1ENSP000002195484STRING: ENSP00000219548
    VCPENSP000003517774STRING: ENSP00000351777
    HAAOENSP000002949734STRING: ENSP00000294973
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006508proteolysis IEA--
    GO:0016579protein deubiquitination IDA--

    ATXN3L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATXN3L (ATX3L)

    Search CenterWatch for drugs/clinical trials and news about ATXN3L / ATX3L

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATXN3L gene: 
    NM_001135995.1  

    Unigene Cluster for ATXN3L:

    Ataxin 3-like
    Hs.382641  [show with all ESTs]
    Unigene Representative Sequence: NM_001135995
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000380622(uc010ned.3)
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATXN3L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN3L
    Clone
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    GenScript: all cDNA clones in your preferred vector: ATXN3L (NM_001135995)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN3L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN3L
    Sirion Biotech Customized lentivirus for stable overexpression of ATXN3L 
                         Customized lentivirus expression plasmids for stable overexpression of ATXN3L 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ATXN3L
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN3L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN3L

    Additional mRNA sequence: 

    AB050195.1 AK302365.1 BC137186.1 BC137187.1 

    2 DOTS entries:

    DT.40225272  DT.91811394 

    3 AceView cDNA sequences:

    AA411848 AB050195 AA402429 

    GeneLoc Exon Structure


    (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

    ATXN3L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAACTCCT
    ATXN3L Expression
    About this image


    See ATXN3L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATXN3L

    SOURCE GeneReport for Unigene cluster: Hs.382641
        SABiosciences Custom PCR Arrays for ATXN3L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3L

    (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 ATXN3L gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATXN36
    Ataxin-3
    60(a)
    1 → many
    5(43832919-43844552)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    53(a)
    1 → many
    1(11651929-11674005)
    zebrafish
    (Danio rerio)
    Actinopterygii ATXN3L6
    ataxin 3-like
    47(a)
    1 → many
    17(53814584-53817190)
    worm
    (Caenorhabditis elegans)
    Secernentea atx-36
    Ataxin-3 homolog
    32(a)
    1 → many
    V(15575499-15577043)
            Species with no ortholog for ATXN3L

    ENSEMBL Gene Tree for ATXN3L (if available)
    TreeFam Gene Tree for ATXN3L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATXN3L gene
    ATXN32  
    1 SIMAP similar gene for ATXN3L using alignment to 1 protein entry:     ATX3L_HUMAN:
    ATXN3

    ATXN3L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/70 SNPs in ATXN3L are shown (see all 70)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1931605851,2
    --13251804(+) CTGGGA/CGACAG 1 -- int10--------
    rs1827939651,2
    --13251847(+) CAAAGA/CAAGAG 1 -- int10--------
    rs1497824031,2
    --13251991(+) GAAATA/GACATA 1 -- int10--------
    rs1456824151,2
    --13252076(+) CACAGA/GCAAGA 1 -- int10--------
    rs412972911,2
    C--13252251(+) AGATAC/TTGCAG 1 -- int10--------
    rs588787371,2
    C,F--13252350(+) TTTAGG/TCCCAC 1 -- ut311Minor allele frequency- T:0.00WA 2
    rs2008214601,2
    C--13252539(+) ATTTCG/TAAAAT 2 L F mis10--------
    rs1878263311,2
    C--13252551(+) GTGTCA/GACAGC 2 V syn10--------
    rs1999685591,2
    C--13252562(+) GGCCTA/GTACTG 2 Q * stg10--------
    rs48308421,2,4
    C,F,A,H--13252570(+) CTGTGT/CCTTCA 2 /D /G mis128Minor allele frequency- C:0.29NS EA NA WA CSA 2682

    HapMap Linkage Disequilibrium report for ATXN3L (13336766 - 13338518 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATXN3L: --

    Human Gene Mutation Database (HGMD): ATXN3L

    Locus Specific Mutation Databases (LSDB): ATXN3L
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN3L
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN3L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for ATXN3L:    About MalaCards
    machado-joseph disease    

    1 disease from the University of Copenhagen DISEASES database for ATXN3L:
    Machado-Joseph disease

    ATXN3L for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATXN3L

    Export disorders for ATXN3L gene to outside databases

    (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 ATXN3L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ATXN3L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PubMed id 21118805)1, 2 Weeks S.D.... Loll P.J. (2011)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    3. The genomic structure and expression of MJD, the Machado-Joseph disease gene. (PubMed id 11450850)1, 2 Ichikawa Y.... Kanazawa I. (2001)
    4. A microarray of ubiquitylated proteins for profiling d eubiquitylase activity reveals the critical roles of both chain and substrate. (PubMed id 22626734)1 Loch C.M. and Strickler J.E. (2012)
    5. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    7. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (2007)
    8. 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)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92552 HGNC: 24173 AceView: ATXN3L Ensembl:ENSG00000123594 euGenes: HUgn92552
    ECgene: ATXN3L Kegg: 92552 H-InvDB: ATXN3L

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for ATXN3L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATXN3L gene:
    Search GeneIP for patents involving ATXN3L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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