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

APTX Gene

protein-coding   GIFtS: 61
GCID: GC09M032962

aprataxin

(Previous names: ataxia 1, early onset with hypoalbuminemia )
(Previous symbol: AXA1)
 Explore 29 diseases affiliated with
APTX via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for APTX    

Aliases
for APTX gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Aprataxin1     Forkhead-Associated Domain Histidine Triad-Like Protein2 3
AXA11 2 3     FHA-HIT2 3
AOA1 2 5     FLJ201571
AOA11 2 5     Ataxia 1, Early Onset With Hypoalbuminemia1
EAOH1 2     EC 3.-.-.-3
EOAHA1 2     

External Ids:    HGNC: 159841   Entrez Gene: 548402   Ensembl: ENSG000001370747   OMIM: 6063505   UniProtKB: Q7Z2E33   
ORGUL members:         
NONCODE:n410136 n410134 n410133    

Export aliases for APTX gene to outside databases

Previous GC identifers: GC09M033284 GC09M033142


Summaries
for APTX gene

(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 APTX:
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)

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)


Genomic Views
for APTX 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for APTX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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)

  • n410133
  • n410134
  • n410136
32972603 32987121 33001639 chr9

Proteins
for APTX gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: 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
Subcellular location: Isoform 12: Cytoplasm
1 PDB 3D structure from and Proteopedia for APTX:
3KT9 (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z2E3

    • APTX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Uscn Proteins for APTX

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA15044383
    GO:0000790colocalizes with nuclear chromatin IDA--
    GO:0005654nucleoplasm IDA16777843
    GO:0005730nucleolus IDA15044383
    GO:0005737cytoplasm IEA--


    APTX for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for APTX gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    APTX for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR015880 Znf_C2H2-like
     IPR008984 SMAD_FHA_domain
     IPR001310 Histidine_triad_HIT
     IPR000253 FHA_dom
     IPR011146 HIT-like

    Graphical View of Domain Structure for InterPro Entry Q7Z2E3

    ProtoNet protein and cluster: Q7Z2E3

    1 Blocks protein family: 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


    Function
    for APTX gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Biophysicochemical properties: Kinetic parameters: KM=18 uM for AppppA; KM=837.5 uM for AMP-NH(2);

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

    miRNA
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    hsa-miR-4324 hsa-miR-544b hsa-miR-4307 hsa-miR-513b hsa-miR-3919 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmid: APTX 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (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 IDA17276982
    GO:0003725double-stranded RNA binding IDA16547001
    GO:0003824catalytic activity ----


    APTX for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for APTX: Aptxtm1Lex Aptxtm1Pmc
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Aptx):
     cellular  homeostasis/metabolism 

    APTX for phenotypes           About GeneDecksing


    Pathways & Interactions
    for APTX gene

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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APTX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/26 Interacting proteins for APTX (Q7Z2E31, 2, 3 ENSP000004008064) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000012single strand break repair IDA17519253
    GO:0006266DNA ligation IEA--
    GO:0006302double-strand break repair IDA17519253
    GO:0006974response to DNA damage stimulus IMP15044383
    GO:0008219cell death IEA--


    APTX for ontologies           About GeneDecksing



    Drugs & Compounds
    for APTX gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    APTX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about APTX 

    Transcripts
    for APTX gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/33 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

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    Inhib. RNA
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    Additional cDNA 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 

    24/35 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 

    24/281 AceView cDNA sequences (see all 281):

    AY302068 AA494365 AL549799 AA878229 CR592504 AL039430 NM_175072 AA845572 
    CB142359 NM_017692 AI824154 NM_175071 AA436601 AY208842 AY208836 NM_175069 
    AK131046 AY208832 BE467414 AY208837 AJ565853 AL551395 AI203777 AA215869 

    GeneLoc Exon Structure

    5/34 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

    Expression
    for APTX gene

    (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

    APTX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAAGGTGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See APTX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APTX

    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

        SABiosciences Custom PCR Arrays for APTX
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    Orthologs
    for APTX gene

    (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 eukaryotes.

    Orthologs for APTX gene from 8/22 species (see all 22)    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_001025444.21  NP_001020615.11 
     406823825 
    chicken
    (Gallus gallus)    		 Aves APTX1 aprataxin 64.52(n)
    63.34(a)    		   395173  XM_429199.3  XP_429199.3 
    lizard
    (Anolis carolinensis)    		 Reptilia APTX6
    		 --
    		 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)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons APTX6
    		 aprataxin
    		 11(a)
    		 1 ↔ 1
    		 5(125304-128960)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 basic helix-loop-helix, putative, expressed
    		 12(a)
    		 1 ↔ 1
    		 3(10211307-10214685)


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

    Paralogs
    for APTX gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APTX gene
    PNKP2  

    APTX for paralogs           About GeneDecksing



    Genomic Variants
    for APTX gene

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

    10/595 NCBI SNPs in APTX are shown (see all 595)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048941031,2
    		Cpathogenic38803566(-) CATTGA/GAATTC 20 * W stg10--------
    rs1135563311,2
    		--32931072(+) CCTTTC/TCATGC 12 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.50CSA 2
    rs1152956471,2
    		C,F,--32931122(+) GTTTCC/TACCTA 12 -- nc-transcript-variantut311Minor allele frequency- T:0.04WA 118
    rs1114304451,2
    		--32931272(+) CCACAT/CCATCA 12 -- ut31 nc-transcript-variant2Minor allele frequency- C:0.33CSA 3
    rs1136385481,2
    		--32931691(+) CAAACG/CCAAAT 12 -- ut31 nc-transcript-variant2Minor allele frequency- C:0.33CSA 3
    rs120010661,2
    		C,F,H--32931978(+) GCTCAG/AGCATC 18 /P /L mis1 ut31 ese311Minor allele frequency- A:0.01NS EA NA 1488
    rs1121300071,2
    		--32932473(+) TCCTGT/ACAGGA 12 -- int11Minor allele frequency- A:0.00CSA 1
    rs1123084721,2
    		F,--32933045(+) AATACT/ACTTTG 12 -- int13Minor allele frequency- A:0.03CSA WA 122
    rs625421351,2
    		--32933131(+) GCTCAG/ATAAGT 12 -- int11Minor allele frequency- A:0.50NA 2
    rs1133125141,2
    		--32933223(+) TTGTAC/TGCTAA 12 -- int12Minor allele frequency- T:0.02CSA WA 120

    HapMap Linkage Disequilibrium report for APTX (32972604 - 33025166 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for APTX
         1 CNV: 1822
    Human Gene Mutation Database (HGMD): APTX

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for APTX

    Disorders / Diseases
    for APTX gene

    (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
    APTX for disorders           About GeneDecksing

    OMIM gene information: 606350   
    OMIM disorders: 208920  607426  
    UniProtKB/Swiss-Prot: APTX_HUMAN, Q7Z2E3
  • Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]. AOA is an autosomal
    • recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late
    peripheral neuropathy

    20/29 diseases for APTX (see all 29):    About MalaCards
    ataxia-ocular apraxia    apraxia    ataxia    oculomotor apraxia
    ataxia with oculomotor apraxia type 1    triple-a syndrome    peripheral nervous system disease    friedreich ataxia
    cerebellar ataxia    ataxia telangiectasia    axonal neuropathy    nervous system disease
    mantle cell lymphoma    multiple system atrophy    spinocerebellar degeneration    spinocerebellar ataxia
    peripheral neuropathy    neurodegenerative disease    acute myeloid leukemia    myeloid leukemia

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

    10 Novoseek 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
    Ataxia with Oculomotor Apraxia 1

    Human Genome Epidemiology (HuGE) Navigator: APTX (1 document)

    Export disorders for APTX gene to outside databases

    Publications
    for APTX gene

    (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 APTX gene, integrated from 9 sources (see all 87):
    (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. (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. (2001)
    3. Actions of aprataxin in multiple DNA repair pathways. (PubMed id 17276982)1, 2, 9 Rass U.... West S.C. (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. (2006)
    5. Aprataxin, a novel protein that protects against genotoxic stress. (PubMed id 15044383)1, 2, 9 Gueven N.... Lavin M.F. (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. (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. (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. (2004)
    9. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. (PubMed id 15699391)1, 2, 9 Quinzii C.M.... Hirano M. (2005)
    10. Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (PubMed id 14506070)1, 2, 9 Le Ber I.... Duerr A. (2003)

    External Searches for APTX gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing APTX gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54840 HGNC: 15984 AceView: APTX Ensembl:ENSG00000137074 euGenes: HUgn54840
    ECgene: APTX H-InvDB: APTX

    Other Databases showing APTX gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing APTX gene

    (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 APTX Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APTX Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APTX

    Intellectual Property
    for APTX gene

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



    Products
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