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Aliases for APLF Gene

Aliases for APLF Gene

  • Aprataxin And PNKP Like Factor 2 3
  • XRCC1-Interacting Protein 1 2 3 4
  • C2orf13 3 4 6
  • PNK And APTX-Like FHA Domain-Containing Protein 3 4
  • Apurinic-Apyrimidinic Endonuclease APLF 3 4
  • Xip1 3 4
  • APFL 3 6
  • PALF 3 4
  • Zinc Finger, CX5CX6HX5H Motif Containing 1 3
  • Chromosome 2 Open Reading Frame 13 2
  • Aprataxin- And PNK-Like Factor 3
  • CX5CX6HX5H Motif Containing 1 2
  • PNK And APTX-Like FHA Protein 3
  • Aprataxin And PNK-Like Factor 3
  • EC 4.2.99.18 4
  • Zinc Finger 2
  • ZCCHH1 3

External Ids for APLF Gene

Previous HGNC Symbols for APLF Gene

  • C2orf13

Previous GeneCards Identifiers for APLF Gene

  • GC02P068548
  • GC02P068694

Summaries for APLF Gene

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 nucleotide binding and DNA-(apurinic or apyrimidinic site) lyase activity.

UniProtKB/Swiss-Prot for APLF Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APLF Gene

Genomics for APLF Gene

Regulatory Elements for APLF Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for APLF Gene

Start:
68,467,559 bp from pter
End:
68,655,576 bp from pter
Size:
188,018 bases
Orientation:
Plus strand

Genomic View for APLF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APLF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APLF Gene

Proteins for APLF Gene

  • Protein details for APLF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW19-APLF_HUMAN
    Recommended name:
    Aprataxin and PNK-like factor
    Protein Accession:
    Q8IW19
    Secondary Accessions:
    • A8K476
    • Q53P47
    • Q53PB9
    • Q53QU0

    Protein attributes for APLF Gene

    Size:
    511 amino acids
    Molecular mass:
    56956 Da
    Quaternary structure:
    • Interacts with LIG4, PARP1, XRCC1, XRCC4 and XRCC5.
    SequenceCaution:
    • Sequence=AAY14945.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for APLF Gene

neXtProt entry for APLF Gene

Proteomics data for APLF Gene at MOPED

Post-translational modifications for APLF Gene

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

Other Protein References for APLF Gene

No data available for DME Specific Peptides for APLF Gene

Domains for APLF Gene

Protein Domains for APLF Gene

Suggested Antigen Peptide Sequences for APLF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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.
  • The FHA-like domain mediates interaction with XRCC1 and XRCC4.
  • Contains 1 FHA-like domain.
Family:
  • Belongs to the APLF family.
Similarity:
  • Contains 2 PBZ-type zinc fingers.
genes like me logo Genes that share domains with APLF: view

No data available for Gene Families for APLF Gene

Function for APLF Gene

Molecular function for APLF Gene

UniProtKB/Swiss-Prot CatalyticActivity: 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for APLF Gene

Gene Ontology (GO) - Molecular Function for APLF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IDA 18172500
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity IDA 17396150
GO:0004520 endodeoxyribonuclease activity IDA 17396150
GO:0004930 G-protein coupled receptor activity --
GO:0004983 neuropeptide Y receptor activity --
genes like me logo Genes that share ontologies with APLF: view
genes like me logo Genes that share phenotypes with APLF: view

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for APLF Gene

Localization for APLF Gene

Subcellular locations from UniProtKB/Swiss-Prot for APLF Gene

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
Jensen Localization Image for APLF Gene COMPARTMENTS Subcellular localization image for APLF gene
Compartment Confidence
cytosol 5
nucleus 5
endosome 1

Gene Ontology (GO) - Cellular Components for APLF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17396150
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with APLF: view

Pathways for APLF Gene

SuperPathways for APLF Gene

No Data Available

Gene Ontology (GO) - Biological Process for APLF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IMP 17396150
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0006302 double-strand break repair IMP 17396150
GO:0006974 cellular response to DNA damage stimulus IDA 17396150
GO:0007186 G-protein coupled receptor signaling pathway --
genes like me logo Genes that share ontologies with APLF: view

No data available for Pathways by source for APLF Gene

Transcripts for APLF Gene

Unigene Clusters for APLF Gene

Aprataxin and PNKP like factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APLF

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for APLF

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APLF Gene

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

Relevant External Links for APLF Gene

GeneLoc Exon Structure for
APLF
ECgene alternative splicing isoforms for
APLF

Expression for APLF Gene

mRNA expression in normal human tissues for APLF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APLF Gene

SOURCE GeneReport for Unigene cluster for APLF Gene Hs.720369

genes like me logo Genes that share expressions with APLF: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for APLF Gene

Orthologs for APLF Gene

This gene was present in the common ancestor of animals.

Orthologs for APLF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APLF 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APLF 35
  • 83.99 (n)
  • 73.71 (a)
APLF 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APLF 35
  • 81.79 (n)
  • 72.39 (a)
APLF 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aplf 35
  • 74.71 (n)
  • 61.57 (a)
Aplf 16
Aplf 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APLF 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APLF 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aplf 35
  • 74.21 (n)
  • 59.52 (a)
chicken
(Gallus gallus)
Aves APLF 35
  • 58.27 (n)
  • 48.98 (a)
APLF 36
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APLF 36
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aplf 35
  • 50.08 (n)
  • 40.7 (a)
zebrafish
(Danio rerio)
Actinopterygii APLF 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6171 36
  • 22 (a)
OneToOne
Species with no ortholog for APLF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APLF Gene

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

Paralogs for APLF Gene

No data available for Paralogs for APLF Gene

Variants for APLF Gene

Sequence variations from dbSNP and Humsavar for APLF Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs3923138 -- 68,530,821(+) ATCTT(A/G)TTATT intron-variant
rs3923139 -- 68,530,841(+) AAACC(A/C)TCTAT intron-variant
rs4129711 -- 68,580,482(-) CAGGG(C/T)CCTAG downstream-variant-500B
rs4130848 -- 68,478,520(-) ttctc(C/G)agctt intron-variant
rs4131349 -- 68,477,766(-) CCTCA(G/T)TCGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APLF Gene

Variant ID Type Subtype PubMed ID
esv2671612 CNV Deletion 23128226
esv2525478 CNV Insertion 19546169
esv268840 CNV Insertion 20981092
esv273855 CNV Insertion 20981092
esv2576058 CNV Loss 19546169
esv33850 CNV Gain+Loss 17666407
esv1006357 CNV Insertion 20482838

Relevant External Links for APLF Gene

HapMap Linkage Disequilibrium report
APLF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APLF Gene

Disorders for APLF Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for APLF Gene including...

Search for APLF Gene in MalaCards »

(2) University of Copenhagen DISEASES for APLF Gene

genes like me logo Genes that share disorders with APLF: view

No data available for UniProtKB/Swiss-Prot for APLF Gene

Publications for APLF Gene

  1. APLF (C2orf13) is a novel human protein involved in the cellular response to chromosomal DNA strand breaks. (PMID: 17353262) Iles N. … Caldecott K.W. (Mol. Cell. Biol. 2007) 2 3 4
  2. APLF (C2orf13) facilitates nonhomologous end-joining and undergoes ATM-dependent hyperphosphorylation following ionizing radiation. (PMID: 18077224) Macrae C.J. … Koch C.A. (DNA Repair 2008) 2 3 4
  3. APLF (C2orf13) is a novel component of poly(ADP-ribose) signaling in mammalian cells. (PMID: 18474613) Rulten S.L. … Caldecott K.W. (Mol. Cell. Biol. 2008) 2 3 4
  4. Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins. (PMID: 18172500) Ahel I. … West S.C. (Nature 2008) 3 4
  5. A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses. (PMID: 17396150) Kanno S. … Yasui A. (EMBO J. 2007) 3 4

Products for APLF Gene

Sources for APLF Gene

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