• Gene id: 200558

Gene Summary

• Gene Symbol: APLF   Gene   UCSC   Ensembl
• Aliases: APFL, C2orf13, PALF, Xip1, ZCCHH1
• Gene name: aprataxin and PNKP like factor
• Alternate names: aprataxin and PNK-like factor, PNK and APTX-like FHA domain-containing protein, PNK and APTX-like FHA protein, XRCC1-interacting protein 1, aprataxin- and PNK-like factor, apurinic-apyrimidinic endonuclease APLF, zinc finger, CX5CX6HX5H motif containing 1,
• Gene location: 2p13.3 (68467584: 68580161)     Exons: 10     NC_000002.12
• Gene summary(Entrez): 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]
• OMIM: 117139

Protein Summary

• Protein general information: Q8IW19  
  • Name: Aprataxin and PNK like factor (EC 4.2.99.18) (Apurinic apyrimidinic endonuclease APLF) (PNK and APTX like FHA domain containing protein) (XRCC1 interacting protein 1)
  • Length: 511  
  • Mass: 56956
• Sequence:

  MSGGFELQPRDGGPRVALAPGETVIGRGPLLGITDKRVSRRHAILEVAGGQLRIKPIHTNPCFYQSSEKSQLLPL
  KPNLWCYLNPGDSFSLLVDKYIFRILSIPSEVEMQCTLRNSQVLDEDNILNETPKSPVINLPHETTGASQLEGST
  EIAKTQMTPTNSVSFLGENRDCNKQQPILAERKRILPTWMLAEHLSDQNLSVPAISGGNVIQGSGKEEICKDKSQ
  LNTTQQGRRQLISSGSSENTSAEQDTGEECKNTDQEESTISSKEMPQSFSAITLSNTEMNNIKTNAQRNKLPIEE
  LGKVSKHKIATKRTPHKEDEAMSCSENCSSAQGDSLQDESQGSHSESSSNPSNPETLHAKATDSVLQGSEGNKVK
  RTSCMYGANCYRKNPVHFQHFSHPGDSDYGGVQIVGQDETDDRPECPYGPSCYRKNPQHKIEYRHNTLPVRNVLD
  EDNDNVGQPNEYDLNDSFLDDEEEDYEPTDEDSDWEPGKEDEEKEDVEELLKEAKRFMKRK

• Structural information:
  • Protein Domains: (1..10-)
    (/note="FHA-like"-)
  • Interpro: IPR039253  IPR019406  IPR041388  IPR000253  IPR008984  
  • CDD: cd00060
  • PDB: 2KQB 2KQC 2KQD 2KQE 2KUO 5E50 5W7W 5W7X 5W7Y 6ERF 6TYT 6TYW 6TYZ
  • PDBsum: 2KQB 2KQC 2KQD 2KQE 2KUO 5E50 5W7W 5W7X 5W7Y 6ERF 6TYT 6TYW 6TYZ
  • DIP: 39136
  • STRING: ENSP00000307004
• Other Databases: GeneCards:  APLF  Malacards:  APLF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006302	double-strand break repair	IBA	biological process
GO:0035861	site of double-strand break	IBA	cellular component
GO:0004520	endodeoxyribonuclease activity	IDA	molecular function
GO:0008408	3'-5' exonuclease activity	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	molecular function
GO:0000166	nucleotide binding	IDA	molecular function
GO:0006302	double-strand break repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000012	single strand break repair	IMP	biological process
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA	molecular function
GO:0006302	double-strand break repair	IEA	biological process
GO:0008408	3'-5' exonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0051106	positive regulation of DNA ligation	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045191	regulation of isotype switching	IEA	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881