Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ATXN7L3 Gene

protein-coding   GIFtS: 52
GCID: GC17M042269

Ataxin 7-Like 3

  Try our

disease database 

(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

TryGeneCards Plus

Aliases
Ataxin 7-Like 31 2
SAGA-Associated Factor 11 Homolog2 3
Ataxin-7-Like Protein 32
ATXN7L3B5

External Ids:    HGNC: 254161   Entrez Gene: 569702   Ensembl: ENSG000000871527   OMIM: 6155795   UniProtKB: Q14CW93   

Export aliases for ATXN7L3 gene to outside databases

Previous GC identifers: GC17M039624 GC17M038032


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

TryGeneCards Plus

GeneCards Summary for ATXN7L3 Gene:
ATXN7L3 (ataxin 7-like 3) is a protein-coding gene. GO annotations related to this gene include transcription coactivator activity and ligand-dependent nuclear receptor transcription coactivator activity. An important paralog of this gene is ATXN7L3B.

UniProtKB/Swiss-Prot: AT7L3_HUMAN, Q14CW9
Function: Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex
that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination.
Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and
H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for
transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to
recruit USP22 and ENY2 into the SAGA complex




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATXN7L3 gene promoter:
         Elk-1   NF-1   NF-1/L   E2F   E2F-1   AP-1   E2F-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ATXN7L3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATXN7L3


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21

ATXN7L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN7L3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042269:  view genomic region     (about GC identifiers)

Start:
42,269,173 bp from pter      End:
42,277,481 bp from pter
Size:
8,309 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: AT7L3_HUMAN, Q14CW9 (See protein sequence)
Recommended Name: Ataxin-7-like protein 3  
Size: 347 amino acids; 38651 Da
Subunit: Component of some SAGA transcription coactivator-HAT complexes, at least composed of ATXN7, ATXN7L3,
ENY2, GCN5L2, SUPT3H, TAF10, TRRAP and USP22. Within the SAGA complex, ENY2, ATXN7, ATXN7L3, and USP22 form an
additional subcomplex of SAGA called the DUB module (deubiquitination module). Interacts directly with ENY2 and
USP22
Sequence caution: Sequence=AAH37418.1; Type=Erroneous initiation; Sequence=BAB71070.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ATXN7L3:
2KKT (3D)    
Secondary accessions: Q8IY68 Q96N40 Q9NPU5
Alternative splicing: 2 isoforms:  Q14CW9-1   Q14CW9-2   

Explore the universe of human proteins at neXtProt for ATXN7L3: NX_Q14CW9

Explore proteomics data for ATXN7L3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATXN7L3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001092303.1  NP_064603.1  

    ENSEMBL proteins: 
     ENSP00000467092   ENSP00000397259   ENSP00000374035   ENSP00000465614   ENSP00000465210  
     ENSP00000467153   ENSP00000466717  
    Reactome Protein details: Q14CW9

    ATXN7L3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ATXN7L3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ATXN7L3
    GenScript Custom Purified and Recombinant Proteins Services for ATXN7L3
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATXN7L3

     
    Search eBioscience for Proteins for ATXN7L3 

     
    antibodies-online proteins for ATXN7L3 (3 products) 

     
    antibodies-online peptides for ATXN7L3

    ATXN7L3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ATXN7L3
    Novus Biologicals ATXN7L3 Antibody
    Abcam antibodies for ATXN7L3
    Cloud-Clone Corp. Antibodies for ATXN7L3
    ThermoFisher Antibodies for ATXN7L3
    antibodies-online antibodies for ATXN7L3 (5 products) 

    ATXN7L3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATXN7L3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATXN7L3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATXN7L3
    Cloud-Clone Corp. CLIAs for ATXN7L3
    Search eBioscience for ELISAs for ATXN7L3 
    antibodies-online kits for ATXN7L3 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR013243 SCA7_dom
     IPR013246 SAGA_su_Sgf11

    Graphical View of Domain Structure for InterPro Entry Q14CW9

    ProtoNet protein and cluster: Q14CW9

    UniProtKB/Swiss-Prot: AT7L3_HUMAN, Q14CW9
    Domain: The long N-terminal helix forms part of the 'assembly lobe' of the SAGA deubiquitination module
    Domain: The C-terminal SGF11-type zinc-finger domain together with the C-terminal catalytic domain of USP22 forms
    the 'catalytic lobe' of the SAGA deubiquitination module (By similarity)
    Similarity: Belongs to the SGF11 family
    Similarity: Contains 1 SCA7 domain
    Similarity: Contains 1 SGF11-type zinc finger


    Find genes that share domains with ATXN7L3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT7L3_HUMAN, Q14CW9
    Function: Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex
    that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination.
    Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and
    H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for
    transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to
    recruit USP22 and ENY2 into the SAGA complex

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA18206972
    GO:0005515protein binding IPI18206972
    GO:0008270zinc ion binding IEA--
    GO:0030374ligand-dependent nuclear receptor transcription coactivator activity IDA18206972
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with ATXN7L3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ATXN7L3:
     Increased HPV18 LCR reporter a 

         1 MGI phenotypic allele for Atxn7l3 (no phenotypes)

    Find genes that share phenotypes with ATXN7L3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATXN7L3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATXN7L3:
    hsa-mir-484 (MIRT041671), hsa-mir-193b-3p (MIRT041527), hsa-mir-125a-5p (MIRT045707), hsa-mir-615-3p (MIRT040185), hsa-mir-766-3p (MIRT039025), hsa-mir-222-3p (MIRT046807), hsa-mir-16-5p (MIRT032069)

    Block miRNA regulation of human, mouse, rat ATXN7L3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN7L3 (see all 126):
    hsa-miR-607 hsa-miR-1321 hsa-miR-188-5p hsa-miR-15a hsa-miR-1260b hsa-miR-3138 hsa-miR-3116 hsa-miR-4300
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ATXN7L3
    Predesigned siRNA for gene silencing in human, mouse, rat ATXN7L3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATXN7L3

    Clone
    Products:
         
    OriGene clones in human, mouse for ATXN7L3 (see all 12)
    OriGene ORF clones in mouse, rat for ATXN7L3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATXN7L3 (NM_001098833)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN7L3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATXN7L3
    Browse ESI BIO Cell Lines and PureStem Progenitors for ATXN7L3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    AT7L3_HUMAN, Q14CW9: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000124SAGA complex IDA18206972
    GO:0071819DUBm complex IEA--

    Find genes that share ontologies with ATXN7L3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for ATXN7L3 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34


    Find genes that share SuperPaths with ATXN7L3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATXN7L3
        HATs acetylate histones


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATXN7L3
    Interactions:

        Search GeneGlobe Interaction Network for ATXN7L3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATXN7L3 (Q14CW92, 3 ENSP000003972594) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UCHL3P153742, 3, ENSP000003668194MINT-2863955 I2D: score=3 STRING: ENSP00000366819
    USP6P351252, 3, ENSP000002500664MINT-2865886 I2D: score=3 STRING: ENSP00000250066
    PICK1Q9NRD52, 3, ENSP000003494654MINT-2866579 I2D: score=3 STRING: ENSP00000349465
    SECISBP2Q96T213, ENSP000003649654I2D: score=2 STRING: ENSP00000364965
    SERTAD1Q9UHV23, ENSP000003506334I2D: score=2 STRING: ENSP00000350633
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0016578histone deubiquitination IDA18206972
    GO:0045893positive regulation of transcription, DNA-templated IDA18206972

    Find genes that share ontologies with ATXN7L3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATXN7L3 (AT7L3)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ATXN7L3 gene (2 alternative transcripts): 
    NM_001098833.1  NM_020218.1  

    Unigene Cluster for ATXN7L3:

    Ataxin 7-like 3
    Hs.512651  [show with all ESTs]
    Unigene Representative Sequence: NM_020218
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591295 ENST00000454077(uc002ifz.3) ENST00000389384(uc010wiv.2 uc002iga.3)
    ENST00000593073 ENST00000586688 ENST00000587097 ENST00000590537 ENST00000589607
    ENST00000591807 ENST00000587022 ENST00000590169 ENST00000589805
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ATXN7L3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN7L3 (see all 126):
    hsa-miR-607 hsa-miR-1321 hsa-miR-188-5p hsa-miR-15a hsa-miR-1260b hsa-miR-3138 hsa-miR-3116 hsa-miR-4300
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ATXN7L3
    Predesigned siRNA for gene silencing in human, mouse, rat ATXN7L3
    Clone
    Products:
         
    OriGene clones in human, mouse for ATXN7L3 (see all 12)
    OriGene ORF clones in mouse, rat for ATXN7L3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATXN7L3 (NM_001098833)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN7L3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ATXN7L3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ATXN7L3
      QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L3
      QuantiFast Probe-based Assays in human, mouse, rat ATXN7L3

    Additional mRNA sequence: 

    AK056002.1 AK074344.1 AK126117.1 AK296689.1 AL390158.1 BC024695.2 BC037418.1 BC064932.1 
    BC100295.1 BC113595.1 BC126113.1 

    19 DOTS entries:

    DT.92431104  DT.446888  DT.95072125  DT.100789998  DT.95072121  DT.65286471  DT.95072123  DT.100789996 
    DT.100808587  DT.120990578  DT.120990624  DT.120990648  DT.120990659  DT.95072120  DT.95234043  DT.100786720 
    DT.80102041  DT.91776388  DT.91872407 

    Selected AceView cDNA sequences (see all 214):

    AA430364 BG057218 BU957487 BC064932 BU169759 BM474995 BU521215 AI937116 
    BF032894 BE699161 AA430414 BG056250 BF792915 BF478082 BC024695 AI140135 
    T08943 BX644826 BU184692 AI623751 BU509880 BU167235 AK074344 BX282034 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L3 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ·
    SP1:                                                                                                        -     -                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                        -     -                                             
    SP4:        -     -     -                                                                                                                                       
    SP5:              -     -                                                                                                                                       

    ExUns: 14c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ATXN7L3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ATXN7L3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCTGGTG
    ATXN7L3 Expression
    About this image


    ATXN7L3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
    ATXN7L3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN7L3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512651
        Custom PCR Arrays for ATXN7L3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ATXN7L3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ATXN7L3
    QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L3
    QuantiFast Probe-based Assays in human, mouse, rat ATXN7L3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for ATXN7L3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn7l31 , 5 ataxin 7-like 31, 5 93.6(n)1
    99.44(a)1
      11 (66.29 cM)5
    2172181  NM_001098836.11  NP_001092306.11 
     1022893005 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    81(a)
    1 → many
    6(66680243-66698413)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atxn7l31 ataxin 7-like 3 72.48(n)
    80.23(a)
      100379754  XM_002935537.2  XP_002935583.2 
    zebrafish
    (Danio rerio)
    Actinopterygii atxn7l31 ataxin 7-like 3 73.55(n)
    78.76(a)
      368510  NM_001040341.2  NP_001035431.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sgf116
    Sgf11
    31(a)
    1 → many
    3L(18674137-18674936)


    ENSEMBL Gene Tree for ATXN7L3 (if available)
    TreeFam Gene Tree for ATXN7L3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ATXN7L3 gene
    ATXN7L3B2  
    1 SIMAP similar gene for ATXN7L3 using alignment to 7 protein entries:     AT7L3_HUMAN (see all proteins):
    ATXN7L3B

    Find genes that share paralogs with ATXN7L3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATXN7L3
    PGOHUM00000241363


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ATXN7L3 (see all 222)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1481490551,2
    --42269615(+) TCCCTC/TAGGGT 2 -- ut310--------
    rs733161621,2
    C--42269687(+) GCCAAG/AGAACA 2 -- ut312Minor allele frequency- A:0.06WA 120
    rs1843353831,2
    --42269760(+) CAGAAC/GGGGGG 2 -- ut310--------
    rs1885097051,2
    --42269931(+) TGGCCG/TCCTCT 2 -- ut310--------
    rs1931174141,2
    --42270035(+) AATCAC/GAATTT 2 -- ut310--------
    rs763350951,2
    C,F--42270068(+) ACCAGG/TCATGA 2 -- ut313Minor allele frequency- T:0.08WA NA EA 358
    rs792203541,2
    C,F--42270221(+) TGGCTC/TCTCTT 2 -- ut312Minor allele frequency- T:0.09CSA WA 120
    rs80793101,2
    C,F,A,H--42270291(+) CACCCG/ATGTCA 2 -- ut31 ese322Minor allele frequency- A:0.36NS EA NA WA CSA 2117
    rs1120586171,2
    C,F--42270362(+) CCCGCA/G/TTGGAG 4 -- ut311CSA 1
    rs1892925501,2
    --42270614(+) ACGCTC/TTGGAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ATXN7L3 (42269173 - 42277481 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATXN7L3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908269CNV Loss21882294
    nsv908272CNV Loss21882294
    nsv833455CNV Loss17160897
    nsv908270CNV Loss21882294
    nsv908271CNV Loss21882294
    dgv529n67CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN7L3
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN7L3

    (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

    TryGeneCards Plus
    OMIM gene information: 615579    OMIM disorders: --


    Find genes that share disorders with ATXN7L3           About GenesLikeMe


    Export disorders for ATXN7L3 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

    TryGeneCards Plus

    PubMed articles for ATXN7L3 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with ATXN7L3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements. (PubMed id 21746879)1, 2 Lang G....Tora L. (Mol. Cell. Biol. 2011)
    2. The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties. (PubMed id 20634802)1, 2 Bonnet J....Kieffer B. (EMBO Rep. 2010)
    3. A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. (PubMed id 18206972)1, 2 Zhao Y.... Devys D. (Mol. Cell 2008)
    4. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PubMed id 15115762)1, 3 Helmlinger D.... Devys D. (Hum. Mol. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. A high-confidence interaction map identifies SIRT1 as a mediator of acetylation of USP22 and the SAGA coactivator complex. (PubMed id 23382074)1 Armour S.M....Sinclair D.A. (Mol. Cell. Biol. 2013)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. (PubMed id 19843541)1 Janer A.... Sittler A. (Hum. Mol. Genet. 2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 56970 HGNC: 25416 AceView: ATXN7L3 Ensembl:ENSG00000087152 euGenes: HUgn56970
    ECgene: ATXN7L3 H-InvDB: ATXN7L3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ATXN7L3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ATXN7L3 gene:
    Search GeneIP for patents involving ATXN7L3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ATXN7L3  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ATXN7L3  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ATXN7L3  
     OriGene qSTAR qPCR primer pairs in human, mouse for ATXN7L3   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ATXN7L3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ATXN7L3   OriGene Custom Protein Services for ATXN7L3  

     
     
     Block miRNA regulation of human, mouse, rat ATXN7L3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ATXN7L3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATXN7L3 Predesigned siRNA for gene silencing in human, mouse, rat ATXN7L3
     QuantiFast Probe-based Assays in human, mouse, rat ATXN7L3 QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L3
     Custom PCR Arrays for ATXN7L3 Search Chromatin IP Primers for ATXN7L3
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ATXN7L3  Search GeneGlobe Interaction Network for ATXN7L3
     Regulatory tfbs in ATXN7L3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ATXN7L3 GenScript cDNA clones with any tag delivered in your preferred vector for ATXN7L3
     GenScript Custom Assay Services for ATXN7L3 GenScript Custom overexpressing Cell Line Services for ATXN7L3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ATXN7L3 (AT7L3)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ATXN7L3 antibodies
     Antibodies for ATXN7L3
     See all of Abcam's Antibodies, Kits and Proteins for ATXN7L3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ATXN7L3
     Antibodies for ATXN7L3
     ELISAs for ATXN7L3
     CLIAs for ATXN7L3



     Browse ESI BIO Cell Lines and PureStem Progenitors for ATXN7L3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3
     Browse SwitchGear 3'UTR luciferase reporter plasmids for ATXN7L3
     Browse SwitchGear Promoter luciferase reporter plasmids for ATXN7L3
     ThermoFisher Antibodies for ATXN7L3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L3
     Browse compounds at ApexBio
     Search Addgene for plasmids for ATXN7L3
      Search eBioscience for proteins for ATXN7L3
      Search eBioscience for elisas for ATXN7L3
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for ATXN7L3
     antibodies-online antibodies for ATXN7L3 (5 products)
     antibodies-online kits for ATXN7L3 (4 products)
     antibodies-online peptides for ATXN7L3
     antibodies-online proteins for ATXN7L3 (3 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ATXN7L3 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4