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APLF Gene

protein-coding   GIFtS: 46
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)
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Aliases
Aprataxin And PNKP Like Factor1 2     Zinc Finger1
C2orf131 2 3 5     Xip12
XRCC1-Interacting Protein 11 2 3     ZCCHH12
Apurinic-Apyrimidinic Endonuclease APLF2 3     Aprataxin And PNK-Like Factor2
PALF2 3     Aprataxin- And PNK-Like Factor2
PNK And APTX-Like FHA Domain-Containing Protein2 3     PNK And APTX-Like FHA Protein2
APFL2 5     Zinc Finger, CX5CX6HX5H Motif Containing 12
Chromosome 2 Open Reading Frame 131     EC 4.2.99.183
CX5CX6HX5H Motif Containing 11     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 junctional epidermolysis bullosa, and pleurisy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for APLF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • 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 PARP11
  • Phosphorylated in an ATM-dependent manner upon double-strand DNA break1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_775816.1  
    ENSEMBL proteins: 
     ENSP00000307004   ENSP00000432297   ENSP00000393403  

    APLF Human Recombinant Protein Products:

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    Novus Biologicals APLF Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for APLF

    APLF Antibody Products:

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    Novus Biologicals APLF Antibodies
    Search for Antibodies for APLF at Abcam
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    Search ThermoFisher Antibodies for APLF
    LSBio Antibodies in human, mouse, rat for APLF

    APLF Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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)
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    3 InterPro protein domains:
     IPR008984 SMAD_FHA_domain
     IPR019406 Znf_C2H2_APLF-like
     IPR000253 FHA_dom

    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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model for APLF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
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    Block miRNA regulation of human, mouse, rat APLF using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for APLF
    Predesigned siRNA for gene silencing in human, mouse, rat APLF

    Gene Editing
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    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

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APLF


    (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
    APLF_HUMAN, Q8IW19: Nucleus. Cytoplasm, cytosol. Note=Localizes to DNA damage sites. Accumulates at
    single-strand breaks and double-strand breaks via the PBZ-type zinc fingers
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    endosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol IEA--
    GO:0035861site of double-strand break IDA--

    APLF for ontologies           About GeneDecksing


    (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 APLF
    Interactions:

        GeneGlobe Interaction Network for APLF

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

    Selected Interacting proteins for APLF (Q8IW191, 2, 3 ENSP000003070044) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC5P130101, 2, 3EBI-1256044,EBI-357997 MINT-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
    PARP1P098741, 2, 3, ENSP000003557594EBI-1256044,EBI-355676 MINT-4790102 MINT-4790124 MINT-4790085 I2D: score=2 STRING: ENSP00000355759
    XRCC1P188871, 2, 3, ENSP000002628874EBI-1256044,EBI-947466 MINT-8412618 MINT-8412679 MINT-4790124 I2D: score=2 STRING: ENSP00000262887
    XRCC4Q134261, 2, 3, ENSP000003420114EBI-1256044,EBI-717592 MINT-8412631 MINT-8412696 MINT-4790284 I2D: score=3 STRING: ENSP00000342011
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000012single strand break repair IMP17396150
    GO:0000737DNA catabolic process, endonucleolytic IDA17396150
    GO:0006302double-strand break repair IMP17396150
    GO:0006974cellular response to DNA damage stimulus IDA17396150
    GO:0051106positive regulation of DNA ligation IGI--

    APLF for ontologies           About GeneDecksing



    (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 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APLF gene: 
    NM_173545.2  

    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:
         
    Block miRNA regulation of human, mouse, rat APLF using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for APLF
    Predesigned siRNA for gene silencing in human, mouse, rat APLF
    Clone
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    OriGene clones in human, mouse for APLF (see all 6)
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for APLF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APLF
      QuantiTect SYBR Green Assays in human, mouse, rat APLF
      QuantiFast Probe-based Assays in human, mouse, rat APLF

    Selected AceView cDNA sequences (see all 53):

    BG188837 NM_173545 AA677105 BQ226540 BQ342492 NM_138964 AY089976 BX097685 
    BQ342499 AB084080 BC041144 BC030711 AW418755 CD636591 AF506287 BE699204 
    BE936053 H64244 AI814997 CD636579 BX116921 BE044329 BG719407 BE464826 

    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™, 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)
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    APLF expression in normal human tissues (normalized intensities)
    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
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    APLF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APLF Protein Expression
        Custom PCR Arrays for APLF
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APLF
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for APLF gene from Selected species (see all 12)    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 58.27(n)
    48.98(a)
      421264  XM_419335.4  XP_419335.3 
    lizard
    (Anolis carolinensis)
    Reptilia APLF6
    aprataxin and PNKP like factor
    38(a)
    1 ↔ 1
    1(126748971-126775178)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aplf1 aprataxin and PNKP like factor 50.08(n)
    40.7(a)
      100127823  NM_001113131.1  NP_001106602.1 
    zebrafish
    (Danio rerio)
    Actinopterygii APLF6
    aprataxin and PNKP like factor
    32(a)
    1 ↔ 1
    1(52126252-52145298) ENSDARG00000086579
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61716
    --
    22(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)
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      --

    (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 APLF (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

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    (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.)
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    OMIM gene information: 611035    OMIM disorders: --

    6 diseases for APLF:    
    About MalaCards
    junctional epidermolysis bullosa    pleurisy    epidermolysis bullosa    thyroid cancer
    thyroiditis    multiple sclerosis

    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)
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    PubMed articles for APLF gene, integrated from 10 sources (see all 25):
    (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. (Mol. Cell. Biol. 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. (DNA Repair 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. (Mol. Cell. Biol. 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. (Nat. Struct. Mol. Biol. 2010)
    5. Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins. (PubMed id 18172500)1, 2 Ahel I....West S.C. (Nature 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. (J. Biol. Chem. 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. (EMBO J. 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. (Nature 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. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 200558 HGNC: 28724 AceView: GPR73andC2orf13 Ensembl:ENSG00000169621 euGenes: HUgn200558
    ECgene: APLF H-InvDB: APLF

    (According to HUGE)
    About This Section

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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)
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    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

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    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



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