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APTX Gene

protein-coding   GIFtS: 63
GCID: GC09M032962

Aprataxin

(Previous names: ataxia 1, early onset with hypoalbuminemia)
(Previous symbol: AXA1)
  See APTX-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
aprataxin1 2     AOA12 5
AXA11 2 3     Ataxia 1, Early Onset With Hypoalbuminemia1
Forkhead-Associated Domain Histidine Triad-Like Protein2 3     EAOH2
FHA-HIT2 3     EOAHA2
AOA2 5     EC 3.-.-.-3

External Ids:    HGNC: 159841   Entrez Gene: 548402   Ensembl: ENSG000001370747   OMIM: 6063505   UniProtKB: Q7Z2E33   
ORGUL members:         

Export aliases for APTX gene to outside databases

Previous GC identifers: GC09M033284 GC09M033142


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APTX Gene:
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in
single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase
activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced
transcript variants have been identified for this gene.(provided by RefSeq, Aug 2010)

GeneCards Summary for APTX Gene:
APTX (aprataxin) is a protein-coding gene. Diseases associated with APTX include aptx-related coenzyme q10 deficiency, and apraxia. GO annotations related to this gene include chromatin binding and protein N-terminus binding. An important paralog of this gene is PNKP.

UniProtKB/Swiss-Prot: APTX_HUMAN, Q7Z2E3
Function: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base
excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA
ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of
adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini
that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and
diadenosine tetraphosphate (AppppA), but with lower catalytic activity

Gene Wiki entry for APTX (Aprataxin) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APTX gene promoter:
         Sox9   STAT3   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): APTX promoter sequence
   Search Chromatin IP Primers for APTX

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


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p21.1   HGNC cytogenetic band: 9p13.3

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M032962:  view genomic region     (about GC identifiers)

Start:
32,972,604 bp from pter      End:
33,025,166 bp from pter
Size:
52,563 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for APTX

(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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: APTX_HUMAN, Q7Z2E3 (See protein sequence)
Recommended Name: Aprataxin  
Size: 356 amino acids; 40740 Da
Subunit: Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL.
Interacts (via FHA-like domain) with MDC1 (phosphorylated)
5 PDB 3D structures from and Proteopedia for APTX:
3KT9 (3D)        4NDF (3D)        4NDG (3D)        4NDH (3D)        4NDI (3D)    
Secondary accessions: A8MTN4 D3DRK9 D3DRL0 Q0P662 Q5T781 Q5T782 Q5T784 Q6JV81 Q6JV82 Q6JV85
Q7Z2F3 Q7Z336 Q7Z5R5 Q7Z6V7 Q7Z6V8 Q9NXM5
Alternative splicing: 13 isoforms:  Q7Z2E3-1   Q7Z2E3-2   Q7Z2E3-3   Q7Z2E3-4   Q7Z2E3-5   Q7Z2E3-6   Q7Z2E3-7   Q7Z2E3-8   
Q7Z2E3-9   Q7Z2E3-10   Q7Z2E3-11   Q7Z2E3-12   Q7Z2E3-13   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APTX: NX_Q7Z2E3

Explore proteomics data for APTX at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (8 alternative transcripts): 
    NP_001182177.1  NP_001182178.1  NP_001182179.1  NP_001182180.1  NP_001182181.1  NP_001182183.1  NP_778239.1  NP_778243.1  

    ENSEMBL proteins: 
     ENSP00000369153   ENSP00000417634   ENSP00000380357   ENSP00000419430   ENSP00000418144  
     ENSP00000369145   ENSP00000418733   ENSP00000417804   ENSP00000419723   ENSP00000419289  
     ENSP00000418311   ENSP00000369147   ENSP00000420071   ENSP00000420263   ENSP00000417750  
     ENSP00000419846   ENSP00000419042   ENSP00000419623   ENSP00000369140   ENSP00000419020  
     ENSP00000418069   ENSP00000419597   ENSP00000417684   ENSP00000417649   ENSP00000369141  
     ENSP00000311547   ENSP00000400806  

    APTX 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 APTX
    OriGene Custom MassSpec
    OriGene Custom Protein Services for APTX
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    Novus Biologicals APTX Proteins
    Novus Biologicals APTX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for APTX
    Cloud-Clone Corp. Proteins for APTX

     
    Search eBioscience for Proteins for APTX 

     
    antibodies-online proteins for APTX (17 products) 

     
    antibodies-online peptides for APTX

    APTX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for APTX
    Cloud-Clone Corp. Antibodies for APTX
    ThermoFisher Antibody for APTX
    LSBio Antibodies in human, mouse, rat for APTX
    antibodies-online antibodies for APTX (28 products) 

    APTX Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APTX
    Cloud-Clone Corp. CLIAs for APTX
    Search eBioscience for ELISAs for APTX 
    antibodies-online kits for APTX (16 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR008984 SMAD_FHA_domain
     IPR001310 Histidine_triad_HIT
     IPR019808 Histidine_triad_CS
     IPR015880 Znf_C2H2-like
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z2E3

    ProtoNet protein and cluster: Q7Z2E3

    1 Blocks protein domain: IPB001310 Histidine triad (HIT) protein

    UniProtKB/Swiss-Prot: APTX_HUMAN, Q7Z2E3
    Domain: The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of
    purine mononucleotide (By similarity)
    Domain: The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4
    Domain: The HIT domain is required for enzymatic activity
    Domain: The C2H2-type zinc finger mediates DNA-binding
    Similarity: Contains 1 C2H2-type zinc finger
    Similarity: Contains 1 FHA-like domain
    Similarity: Contains 1 HIT domain


    Find genes that share domains with APTX           About GenesLikeMe


    (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,
    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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APTX_HUMAN, Q7Z2E3
    Function: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base
    excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA
    ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of
    adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini
    that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and
    diadenosine tetraphosphate (AppppA), but with lower catalytic activity
    Biophysicochemical properties: Kinetic parameters: KM=18 uM for AppppA; KM=837.5 uM for AMP-NH(2);

         Enzyme Number (IUBMB): EC 3.-.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA15044383
    GO:0003684damaged DNA binding IDA14755728
    GO:0003690double-stranded DNA binding IDA16547001
    GO:0003725double-stranded RNA binding IDA16547001
    GO:0003824catalytic activity ----
         
    Find genes that share ontologies with APTX           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aptx):
     cellular  homeostasis/metabolism 

    Find genes that share phenotypes with APTX           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for APTX: Aptxtm1Lex Aptxtm1Pmc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APTX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APTX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APTX
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APTX

    miRNA
    Products:
        
    miRTarBase miRNAs that target APTX:
    hsa-mir-342-3p (MIRT043736)

    Block miRNA regulation of human, mouse, rat APTX using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate APTX:
    hsa-miR-4324 hsa-miR-544b hsa-miR-4307 hsa-miR-513b hsa-miR-3919 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidAPTX 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APTX
    Predesigned siRNA for gene silencing in human, mouse, rat APTX

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

    Clone
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    OriGene ORF clones in mouse, rat for APTX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): APTX (NM_001195254)
    Sino Biological Human cDNA Clone for APTX
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APTX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APTX

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APTX


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APTX_HUMAN, Q7Z2E3: Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Upon genotoxic stress, colocalizes with XRCC1
    at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is
    required for nucleolar localization
    APTX_HUMAN, Q7Z2E3: Isoform 12: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA15044383
    GO:0000790colocalizes with nuclear chromatin IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IDA15044383
    GO:0005730nucleolus IDA--

    Find genes that share ontologies with APTX           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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APTX
    Interactions:

        GeneGlobe Interaction Network for APTX

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

    Selected Interacting proteins for APTX (Q7Z2E31, 2, 3 ENSP000004008064) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC1P188871, 2, 3, ENSP000002628874EBI-847814,EBI-947466 MINT-2864208 MINT-51181 MINT-51153 MINT-51140 MINT-51142 MINT-51182 MINT-51154 MINT-51139 MINT-51230 MINT-2864189 I2D: score=5 STRING: ENSP00000262887
    TRIM37O949722, 3, ENSP000002622944MINT-2860960 MINT-2860941 I2D: score=3 STRING: ENSP00000262294
    CEP350Q5VT062, 3, ENSP000003565794MINT-2867693 I2D: score=3 STRING: ENSP00000356579
    HIVEP1P158222, 3, ENSP000003686984MINT-2859508 I2D: score=3 STRING: ENSP00000368698
    MAPKBP1O603362, 3MINT-2870118 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000012single strand break repair IDA14755728
    GO:0000738DNA catabolic process, exonucleolytic IDA16547001
    GO:0006266DNA ligation IEA--
    GO:0006302double-strand break repair IDA17519253
    GO:0006974cellular response to DNA damage stimulus IMP15044383

    Find genes that share ontologies with APTX           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APTX

    1 HMDB Compound for APTX    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    6 Novoseek inferred chemical compound relationships for APTX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polynucleotide 75.8 5 17353262 (1), 19155274 (1), 19546231 (1), 15380105 (1)
    coq10 50.4 2 17242337 (1), 15699391 (1)
    methylmethanesulfonate 45.6 1 15367657 (1)
    zinc 29.8 5 15790557 (2), 18077224 (1), 20098424 (1), 17276982 (1)
    alpha tocopherol 18.5 4 17112370 (1), 16193447 (1)
    vitamin-e 11.3 2 17112370 (1), 16193447 (1)



    Find genes that share compounds with APTX           About GenesLikeMe



    (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 )
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    REFSEQ mRNAs for APTX gene (10 alternative transcripts): 
    NM_001195248.1  NM_001195249.1  NM_001195250.1  NM_001195251.1  NM_001195252.1  NM_001195254.1  NM_175069.2  NM_175073.2  
    NM_017692.2  NM_175072.1  

    Unigene Cluster for APTX:

    Aprataxin
    Hs.20158  [show with all ESTs]
    Unigene Representative Sequence: NM_001195249
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
    ENST00000379825(uc022bfi.1 uc003zrn.3 uc003zrr.3 uc003zrq.3 uc003zrs.3 uc003zsb.2 uc003zru.3 uc022bfj.1 uc003zrx.3 uc003zrw.3 uc003zry.3 uc003zrv.3 uc003zrt.3)
    ENST00000494649(uc003zro.3 uc003zrp.3) ENST00000397172 ENST00000465003(uc003zrl.3)
    ENST00000485479(uc011lns.2 uc003zsa.1) ENST00000379817(uc003zrm.3)
    ENST00000467331(uc003zrj.3) ENST00000472896 ENST00000483148 ENST00000482687
    ENST00000460940 ENST00000379819 ENST00000479656 ENST00000468275 ENST00000474658
    ENST00000463596 ENST00000476858 ENST00000495360
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate APTX:
    hsa-miR-4324 hsa-miR-544b hsa-miR-4307 hsa-miR-513b hsa-miR-3919 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidAPTX 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat APTX
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): APTX (NM_001195254)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APTX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APTX
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for APTX
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat APTX
      QuantiTect SYBR Green Assays in human, mouse, rat APTX
      QuantiFast Probe-based Assays in human, mouse, rat APTX

    Additional mRNA sequence: 

    AB603741.1 AJ565850.1 AJ565851.1 AJ565852.1 AJ565853.1 AJ565854.1 AJ565855.1 AJ575566.1 
    AK000164.1 AK055672.1 AK131046.1 AY040777.1 AY208829.1 AY208830.1 AY208831.1 AY208832.1 
    AY208833.1 AY208834.1 AY208835.1 AY208836.1 AY208837.1 AY208838.1 AY208839.1 AY208840.1 
    AY208841.1 AY208842.1 AY302067.1 AY302068.1 AY302069.1 AY302070.1 AY302071.1 AY302072.1 
    AY302073.1 AY302074.1 BC001628.1 BC032650.1 BC068107.1 BC104881.1 BX538161.1 NR_036576.1 
    NR_036577.1 NR_036578.1 NR_036579.1 

    Selected DOTS entries (see all 35):

    DT.95199231  DT.101985029  DT.100826631  DT.102838428  DT.102838425  DT.100826645  DT.102838420  DT.102838429 
    DT.121171524  DT.92431811  DT.101973155  DT.102838426  DT.441403  DT.92431800  DT.100826644  DT.101985028 
    DT.100826646  DT.121171551  DT.102838423  DT.121171521  DT.92431797  DT.100826639  DT.101985027  DT.309478 

    Selected AceView cDNA sequences (see all 281):

    BM674915 AY208842 AA878229 BQ671206 BQ720673 BP873161 AA215869 AY208833 
    BX106637 AA436601 AW196867 AY208838 BM975069 BI818746 AI809888 AY302068 
    BM464980 AA281760 AA662697 BQ674027 AI304429 BG696930 BM665647 BX538161 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APTX (see all 34)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ·
    SP1:                                -     -     -     -     -     -     -           -     -                                                                     
    SP2:                                -     -     -     -     -     -     -           -     -                                                                     
    SP3:                                -     -     -     -     -     -     -           -     -                       -     -     -                                 
    SP4:                                                  -     -     -     -           -     -                                                                     
    SP5:                                                  -     -     -     -           -     -                                                                     

    ExUns: 10c · 10d · 10e ^ 11 ^ 12a · 12b
    SP1:              -     -               
    SP2:              -     -               
    SP3:              -     -               
    SP4:              -     -               
    SP5:              -     -               


    ECgene alternative splicing isoforms for APTX

    (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

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

    APTX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APTX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.20158

    UniProtKB/Swiss-Prot: APTX_HUMAN, Q7Z2E3
    Tissue specificity: Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus
    and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2

        Custom PCR Arrays for APTX
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for APTX gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aptx1 , 5 aprataxin1, 5 88.29(n)1
    87.09(a)1
      4 (20.46 cM)5
    664081  NM_025545.41  NP_079821.31 
     406823825 
    chicken
    (Gallus gallus)
    Aves APTX1 aprataxin 64.53(n)
    63.27(a)
      395173  XM_004949612.1  XP_004949669.1 
    lizard
    (Anolis carolinensis)
    Reptilia APTX6
    aprataxin
    58(a)
    1 ↔ 1
    GL343257.1(76169-84392)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986572 forkhead-associated domain histidine-triad like protein 74.18(n)    AY040781.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aptx1 aprataxin 61.68(n)
    61.06(a)
      405797  NM_214729.1  NP_999894.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG53166
    --
    11(a)
    1 ↔ 1
    3R(15229177-15232016)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HNT3(YOR258W)4 DNA 5' AMP hydrolase involved in DNA repair; member more   --   15(811671-812324) 854432  NP_014901.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APTX gene
    PNKP2  
    1 SIMAP similar gene for APTX using alignment to 10 protein entries:     APTX_HUMAN (see all proteins):
    PNKP

    Find genes that share paralogs with APTX           About GenesLikeMe



    (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)
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    Selected SNPs for APTX (see all 748)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1508860261,2,,4
    C,FAtaxia-oculomotor apraxia syndrome (AOA)4 --32954910(+) GGTAAC/TGGGCC 20 H R nc-transcript-variantmis12Minor allele frequency- T:0.01NA EU 5873
    VAR_0188014
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0188012 W R mis40--------
    VAR_0187974
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0187972 H R mis40--------
    VAR_0187984
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0187982 P L mis40--------
    VAR_0187994
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0187992 V G mis40--------
    VAR_0253654
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0253652 L P mis40--------
    VAR_0188004
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0188002 D G mis40--------
    VAR_0187944
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0187942 K Q mis40--------
    VAR_0187954
    Ataxia-oculomotor apraxia syndrome (AOA)4--see VAR_0187952 A V mis40--------
    rs1048941031,2
    Cpathogenic132944599(-) CATTGA/GAATTC 20 * W nc-transcript-variantstg10--------

    HapMap Linkage Disequilibrium report for APTX (32972604 - 33025166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for APTX:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670354CNV Deletion23128226
    nsv6522CNV Insertion18451855
    nsv438101CNV Loss16468122

    Human Gene Mutation Database (HGMD): APTX
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APTX
    DNA2.0 Custom Variant and Variant Library Synthesis for APTX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606350   
    OMIM disorders: 208920  
    UniProtKB/Swiss-Prot: APTX_HUMAN, Q7Z2E3
  • Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]: An autosomal recessive syndrome characterized by
    early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for APTX:    
    About MalaCards
    aptx-related coenzyme q10 deficiency    apraxia    ataxia with oculomotor apraxia type 1    early-onset ataxia with oculomotor apraxia and hypoalbuminemia
    spinocerebellar degeneration    friedreich ataxia    cysticercosis    generalized dystonia
    doid:4019    ataxia

    6 diseases from the University of Copenhagen DISEASES database for APTX:
    Apraxia     DOID:4019     Cerebellar ataxia     Friedreich ataxia
    Ataxia telangiectasia     Peripheral neuropathy

    Find genes that share disorders with APTX           About GenesLikeMe

    10 Novoseek inferred disease relationships for APTX gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    apraxia motor 96.7 13 15164193 (1), 15276230 (1), 17049295 (1), 17485165 (1) (see all 8)
    eoca-ha 94.2 3 15790557 (1), 17242337 (1)
    apraxias 92.3 25 15996403 (2), 15800456 (1), 17049295 (1), 20008512 (1) (see all 17)
    cerebellar ataxia early onset 90 3 15790557 (1), 16193447 (1)
    hypoalbuminemia 84 11 15276230 (1), 17049295 (1), 17485165 (1), 20030201 (1) (see all 7)
    friedreich ataxia 82.7 6 15279807 (1), 17112370 (1), 16193447 (1), 19953284 (1)
    ataxia telangiectasia 74.9 1 11586300 (1)
    vitamin e deficiency 56.4 2 17112370 (1), 16193447 (1)
    neurodegenerative diseases 54.1 3 20008512 (1), 17240329 (1), 19643912 (1)
    neurological disorders 47.9 6 17276982 (1), 16777843 (1), 18836178 (1), 15367657 (1)

    GeneTests: APTX
    GeneReviews: APTX
    Genetic Association Database (GAD): APTX
    Human Genome Epidemiology (HuGE) Navigator: APTX (1 document)

    Export disorders for APTX 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)
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    PubMed articles for APTX gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with APTX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn- finger protein aprataxin. (PubMed id 11586300)1, 2, 3, 9 Moreira M.-C.... Koenig M. (Nat. Genet. 2001)
    2. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. (PubMed id 11586299)1, 2, 3, 9 Date H.... Tsuji S. (Nat. Genet. 2001)
    3. Actions of aprataxin in multiple DNA repair pathways. (PubMed id 17276982)1, 2, 9 Rass U.... West S.C. (J. Biol. Chem. 2007)
    4. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. (PubMed id 16777843)1, 2, 9 Becherel O.J.... Lavin M.F. (Hum. Mol. Genet. 2006)
    5. Aprataxin, a novel protein that protects against genotoxic stress. (PubMed id 15044383)1, 2, 9 Gueven N.... Lavin M.F. (Hum. Mol. Genet. 2004)
    6. Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. (PubMed id 16547001)1, 2, 9 Kijas A.W.... Lavin M.F. (J. Biol. Chem. 2006)
    7. The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. (PubMed id 15380105)1, 2, 9 Clements P.M....Caldecott K.W. (DNA Repair 2004)
    8. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. (PubMed id 15276230)1, 2, 9 Hirano M.... Ueno S. (Neurosci. Lett. 2004)
    9. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. (PubMed id 15699391)1, 2, 9 Quinzii C.M.... Hirano M. (Neurology 2005)
    10. Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (PubMed id 14506070)1, 2, 9 Le Ber I.... Duerr A. (Brain 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 54840 HGNC: 15984 AceView: APTX Ensembl:ENSG00000137074 euGenes: HUgn54840
    ECgene: APTX H-InvDB: APTX

    (According to HUGE)
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      --

    (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

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    NameDescription
    PharmGKB entry for APTX Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APTX Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=APTX[genesymbol]

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

    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, LSBio, 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
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