Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

APLF Gene

protein-coding   GIFtS: 49
GCID: GC02P068694

Aprataxin And PNKP Like Factor

(Previous name: chromosome 2 open reading frame 13)
(Previous symbol: C2orf13)
  See 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)
About This Section

Aliases
Aprataxin And PNKP Like Factor1 2     Chromosome 2 Open Reading Frame 131
C2orf131 2 3 5     Xip12
XRCC1-Interacting Protein 11 2 3     Aprataxin And PNK-Like Factor2
Apurinic-Apyrimidinic Endonuclease APLF2 3     Aprataxin- And PNK-Like Factor2
PALF2 3     PNK And APTX-Like FHA Protein2
PNK And APTX-Like FHA Domain-Containing Protein2 3     EC 4.2.99.183
APFL2 5     XIP13

External Ids:    HGNC: 287241   Entrez Gene: 2005582   Ensembl: ENSG000001696217   OMIM: 6110355   UniProtKB: Q8IW193   

Export aliases for APLF gene to outside databases

Previous GC identifers: GC02P068548 GC02P068431


(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 APLF Gene:
C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al.,
2007 (PubMed 17353262)).(supplied by OMIM, Mar 2008)

GeneCards Summary for APLF Gene: 
APLF (aprataxin and PNKP like factor) is a protein-coding gene. Diseases associated with APLF include degenerative disc disease, and junctional epidermolysis bullosa. GO annotations related to this gene include DNA-(apurinic or apyrimidinic site) lyase activity and nucleotide binding.

UniProtKB/Swiss-Prot: APLF_HUMAN, Q8IW19
Function: Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage
through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at
sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic-apyrimidinic (AP)
endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other
types of pyrimidine base damage




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APLF gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   HSF1 (long)   E2F-2   AP-2gamma   E2F   E2F-1   HSF1short   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p14

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P068694:  view genomic region     (about GC identifiers)

Start:
68,694,691 bp from pter      End:
68,858,004 bp from pter
Size:
163,314 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: APLF_HUMAN, Q8IW19 (See protein sequence)
Recommended Name: Aprataxin and PNK-like factor  
Size: 511 amino acids; 56956 Da
Subunit: Interacts with LIG4, PARP1, XRCC1, XRCC4 and XRCC5
Subcellular location: Nucleus. Cytoplasm, cytosol. Note=Localizes to DNA damage sites. Accumulates at
single-strand breaks and double-strand breaks via the PBZ-type zinc fingers
Sequence caution: Sequence=AAY14945.1; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for APLF:
2KQB (3D)        2KQC (3D)        2KQD (3D)        2KQE (3D)        2KUO (3D)    
Secondary accessions: A8K476 Q53P47 Q53PB9 Q53QU0

Explore the universe of human proteins at neXtProt for APLF: NX_Q8IW19

Explore proteomics data for APLF at MOPED 

Post-translational modifications:

  • UniProtKB: Poly-ADP-ribosylated. In addition to binding non covalently poly(ADP-ribose) via its PBZ-type zinc fingers, the
    protein is also covalently poly-ADP-ribosylated by PARP1
  • UniProtKB: Phosphorylated in an ATM-dependent manner upon double-strand DNA break
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IW19

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

    APLF Protein Expression
    REFSEQ proteins: NP_775816.1  
    ENSEMBL proteins: 
     ENSP00000307004   ENSP00000432297   ENSP00000393403  

    Human Recombinant Protein Products for APLF: 
    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
    OriGene Purified Protein for APLF
    OriGene Protein Over-expression Lysate for APLF
    OriGene MassSpec for APLF 
    OriGene Custom Protein Services for APLF
    GenScript Custom Purified and Recombinant Proteins Services for APLF
    Novus Biologicals APLF Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APLF 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17396150
    GO:0005829cytosol IEA--

    APLF for ontologies           About GeneDecksing



    APLF 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 APLF
    GenScript Custom Superior Antibodies Services for APLF
    Novus Biologicals APLF Antibodies
    Abcam antibodies for APLF
    Cloud-Clone Corp. Antibodies for APLF 
    Search ThermoFisher Antibodies for APLF
    LSBio Antibodies in human, mouse, rat for APLF 

    Assay Products for APLF: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for APLF
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APLF
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APLF 
    Cloud-Clone Corp. CLIAs for APLF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR008984 SMAD_FHA_domain
     IPR000253 FHA_dom
     IPR019406 Znf_C2H2_APLF-like

    Graphical View of Domain Structure for InterPro Entry Q8IW19

    ProtoNet protein and cluster: Q8IW19

    UniProtKB/Swiss-Prot: APLF_HUMAN, Q8IW19
    Domain: The PBZ-type zinc fingers (also named CYR) mediate non-covalent poly(ADP-ribose)-binding.
    Poly(ADP-ribose)-binding is dependent on the presence of zinc and promotes its recruitment to DNA damage sites
    Domain: The FHA-like domain mediates interaction with XRCC1 and XRCC4
    Similarity: Belongs to the APLF family
    Similarity: Contains 1 FHA-like domain
    Similarity: Contains 2 PBZ-type zinc fingers


    APLF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APLF_HUMAN, Q8IW19
    Function: Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage
    through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at
    sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic-apyrimidinic (AP)
    endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other
    types of pyrimidine base damage
    Catalytic activity: The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination
    reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate

         Enzyme Number (IUBMB): EC 4.2.99.181

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IDA18172500
    GO:0003906DNA-(apurinic or apyrimidinic site) lyase activity IDA17396150
    GO:0004520endodeoxyribonuclease activity IDA17396150
    GO:0005515protein binding IPI17353262
    GO:00084083'-5' exonuclease activity IDA17396150
         
    APLF for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for APLF:
     Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aplf):
     cellular  hematopoietic system  homeostasis/metabolism  immune system 

    APLF for phenotypes           About GeneDecksing

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

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APLF
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate APLF (see all 15):
    hsa-miR-3200-5p hsa-miR-3938 hsa-miR-222* hsa-miR-561 hsa-miR-548e hsa-miR-3065-5p hsa-miR-452* hsa-miR-888
    SwitchGear 3'UTR luciferase reporter plasmidAPLF 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APLF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APLF

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APLF
    Sirion Biotech Customized adenovirus for overexpression of APLF

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for APLF (see all 7)
    OriGene ORF clones in mouse, rat for APLF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APLF (NM_173545)
    Sino Biological Human cDNA Clone for APLF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APLF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APLF
    Sirion Biotech Customized lentivirus for stable overexpression of APLF 
                         Customized lentivirus expression plasmids for stable overexpression of APLF 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for APLF
    Search LifeMap BioReagents cell lines for APLF
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APLF


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APLF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/19 Interacting proteins for APLF (Q8IW191, 2, 3 ENSP000003070044) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC5P130102, 3MINT-4790250 MINT-8412713 MINT-8412880 MINT-8412604 MINT-4790303 MINT-8412899 MINT-8412645 MINT-8412784 MINT-4790124 MINT-8412808 MINT-8412838 MINT-8412861 I2D: score=2 
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8201875 I2D: score=1 STRING: ENSP00000250416
    XRCC1P188871, 2, 3, ENSP000002628874EBI-1256044,EBI-947466 MINT-8412618 MINT-8412679 MINT-4790124 I2D: score=2 STRING: ENSP00000262887
    PARP1P098742, 3, ENSP000003557594MINT-4790102 MINT-4790124 MINT-4790085 I2D: score=2 STRING: ENSP00000355759
    XRCC4Q134262, 3, ENSP000003420114MINT-8412631 MINT-8412696 MINT-4790284 I2D: score=3 STRING: ENSP00000342011
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000012single strand break repair IMP17396150
    GO:0006302double-strand break repair IMP17396150
    GO:0006974response to DNA damage stimulus IDA17396150

    APLF for ontologies           About GeneDecksing



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

    Browse Tocris compounds for APLF

    Search CenterWatch for drugs/clinical trials and news about APLF

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

    REFSEQ mRNAs for APLF gene: 
    NM_173545.2  

    Unigene Cluster for APLF:

    Aprataxin and PNKP like factor
    Hs.720369  [show with all ESTs]
    Unigene Representative Sequence: NM_173545
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303795(uc010fdf.2 uc002sep.3) ENST00000529851(uc002ser.1)
    ENST00000445692 ENST00000471727(uc002seq.1) ENST00000488585
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APLF
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate APLF (see all 15):
    hsa-miR-3200-5p hsa-miR-3938 hsa-miR-222* hsa-miR-561 hsa-miR-548e hsa-miR-3065-5p hsa-miR-452* hsa-miR-888
    SwitchGear 3'UTR luciferase reporter plasmidAPLF 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APLF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APLF
    Clone
    Products:
         
    OriGene clones in human, mouse for APLF (see all 7)
    OriGene ORF clones in mouse, rat for APLF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APLF (NM_173545)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APLF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APLF
    Sirion Biotech Customized lentivirus for stable overexpression of APLF 
                         Customized lentivirus expression plasmids for stable overexpression of APLF 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for APLF
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APLF
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APLF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APLF

    Additional mRNA sequence: 

    AK290841.1 AK308186.1 BC030711.2 BC041144.1 

    5 DOTS entries:

    DT.40302033  DT.99938588  DT.110356  DT.101976854  DT.75120939 

    24/53 AceView cDNA sequences (see all 53):

    NM_173545 BC041144 NM_138964 AY089976 BQ342499 BQ226540 BQ342492 AB084080 
    BX097685 BG188837 AA677105 CD636579 AI829598 BG719407 BE699204 BE044329 
    BC030711 AW418755 AF506287 CD636589 R92039 CB992036 CD636593 H64244 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for APLF    About this scheme

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


    ECgene alternative splicing isoforms for APLF

    (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

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


    APLF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow

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

    SOURCE GeneReport for Unigene cluster: Hs.720369
        SABiosciences Custom PCR Arrays for APLF
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for APLF
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APLF
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APLF
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APLF
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APLF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for APLF gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aplf1 , 5 aprataxin and PNKP like factor1, 5 74.71(n)1
    61.57(a)1
      6 (38.52 cM)5
    721031  NM_001170489.11  NP_001163960.11 
     876284295 
    chicken
    (Gallus gallus)
    Aves APLF1 aprataxin and PNKP like factor 58.11(n)
    49.08(a)
      421264  XM_419335.3  XP_419335.3 
    lizard
    (Anolis carolinensis)
    Reptilia APLF6
    aprataxin and PNKP like factor
    36(a)
    1 ↔ 1
    1(126748971-126775178)
    zebrafish
    (Danio rerio)
    Actinopterygii APLF6
    aprataxin and PNKP like factor
    30(a)
    1 ↔ 1
    1(52126252-52147697)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61716
    --
    24(a)
    1 ↔ 1
    3R(11188514-11189653)


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

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2281 SNPs in APLF are shown (see all 2281)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713959801,2
    C--68536515(+) GTCTCAACAA/
            
    AACAA
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs1137804461,2
    C--68696419(+) TTTTGT/ACTTGC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs749436041,2
    C--68696423(+) GACTTA/GCTTAA 1 -- int10--------
    rs1847071671,2
    --68696428(+) GCTTAA/GGAAAT 1 -- int10--------
    rs1417991741,2
    --68696443(+) ACCAGC/TAGAGT 1 -- int10--------
    rs1508121591,2
    --68696448(+) TAGAGA/TACTGT 1 -- int10--------
    rs797430371,2
    C--68696457(+) GTGGGC/TCTGGT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1428061031,2
    --68696520(+) CAGACC/TGTTTC 1 -- int10--------
    rs1875260731,2
    --68696648(+) GCTTTG/TCCTTT 1 -- int10--------
    rs1460902671,2
    --68696729(+) CCTAAA/GTGTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for APLF (68694691 - 68858004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for APLF:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671612CNV Deletion23128226
    esv1006357CNV Insertion20482838
    esv268840CNV Insertion20981092
    esv2525478CNV Insertion19546169
    esv273855CNV Insertion20981092
    esv2576058CNV Loss19546169
    esv33850CNV Gain+Loss17666407

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing APLF
    DNA2.0 Custom Variant and Variant Library Synthesis for APLF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611035    OMIM disorders: --

    6 diseases for APLF:    About MalaCards
    degenerative disc disease    junctional epidermolysis bullosa    pleurisy    epidermolysis bullosa
    thyroid cancer    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for APLF:
    Degenerative disc disease     Junctional epidermolysis bullosa

    APLF for disorders           About GeneDecksing


    Export disorders for APLF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for APLF gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with APLF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. APLF (C2orf13) is a novel component of poly(ADP-ribose) signaling in mammalian cells. (PubMed id 18474613)1, 2, 3 Rulten S.L.... Caldecott K.W. (2008)
    2. APLF (C2orf13) facilitates nonhomologous end-joining and undergoes ATM-dependent hyperphosphorylation following ionizing radiation. (PubMed id 18077224)1, 2, 3 Macrae C.J.... Koch C.A. (2008)
    3. APLF (C2orf13) is a novel human protein involved in the cellular response to chromosomal DNA strand breaks. (PubMed id 17353262)1, 2, 3 Iles N.... Caldecott K.W. (2007)
    4. Solution structures of the two PBZ domains from human APLF and their interaction with poly(ADP-ribose). (PubMed id 20098424)1, 2 Eustermann S....Neuhaus D. (2010)
    5. Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins. (PubMed id 18172500)1, 2 Ahel I....West S.C. (2008)
    6. Human Xip1 (C2orf13) is a novel regulator of cellular responses to DNA strand breaks. (PubMed id 17507382)1, 2 Bekker-Jensen S.... Mailand N. (2007)
    7. A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses. (PubMed id 17396150)1, 2 Kanno S....Yasui A. (2007)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    9. 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. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 200558 HGNC: 28724 AceView: GPR73andC2orf13 Ensembl:ENSG00000169621 euGenes: HUgn200558
    ECgene: APLF H-InvDB: APLF

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for APLF Pharmacogenomics, SNPs, Pathways

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

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for APLF  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for APLF  
     OriGene MassSpec something-or-other for APLF   OriGene clones in human, mouse for APLF  
     OriGene qSTAR qPCR primer pairs in human, mouse for APLF   OriGene Purified Protein for APLF  
     OriGene ORF clones in mouse, rat for APLF   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for APLF   OriGene Custom Protein Services for APLF  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APLF
     QIAGEN SeqTarget long-range PCR primers for resequencing APLF
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APLF
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APLF
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APLF
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APLF
     GenScript Custom Purified and Recombinant Proteins Services for APLF GenScript cDNA clones with any tag delivered in your preferred vector for APLF
     GenScript Custom Assay Services for APLF GenScript Custom Superior Antibodies Services for APLF
     GenScript Custom overexpressing Cell Line Services for APLF 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

     Regulatory tfbs in APLF promoter
     Search Chromatin IP Primers for APLF
     RT2 qPCR Primer Assay in human, mouse, rat APLF
     GNC Network for APLF
     SABiosciences Custom PCR Arrays for APLF
     Search Tocris compounds for APLF
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for APLF
     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
     APLF antibodies
     APLF lysates
     Antibodies for APLF
     See all of Abcam's Antibodies, Kits and Proteins for APLF
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for APLF
     Antibodies for APLF
     ELISAs for APLF
     CLIAs for APLF
     Search LifeMap BioReagents cell lines for APLF
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APLF
     SwitchGear 3'UTR luciferase reporter plasmids for APLF
     Browse SwitchGear Promoter luciferase reporter plasmids for APLF
     Search ThermoFisher Antibodies for APLF
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APLF
     inGenious Targeting Laboratory - Custom generated mouse model solutions for APLF
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APLF
    Customized:
     lentivirus for stable overexpression of APLF
     lentivirus expression plasmids for stable overexpression of APLF
     adenovirus for overexpression of APLF
     LSBio Antibodies in human, mouse, rat for APLF
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      APLF gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4