• Gene id: 55010

Gene Summary

• Gene Symbol: PARPBP   Gene   UCSC   Ensembl
• Aliases: AROM, C12orf48, PARI
• Gene name: PARP1 binding protein
• Alternate names: PCNA-interacting partner,
• Gene location: 12q23.2 (102120170: 102197519)     Exons: 17     NC_000012.12
• OMIM: 613687

Protein Summary

• Protein general information: Q9NWS1  
  • Name: PCNA interacting partner (PARI) (PARP 1 binding protein) (PARP1 binding protein) (PARPBP)
  • Length: 579  
  • Mass: 65054
  • Tissue specificity: Restricted to testis. Overexpressed in multiple cancer cells. {ECO
• Sequence:

  MAVFNQKSVSDMIKEFRKNWRALCNSERTTLCGADSMLLALQLSMAENNKQHSGEFTVSLSDVLLTWKYLLHEKL
  NLPVENMDVTDHYEDVRKIYDDFLKNSNMLDLIDVYQKCRALTSNCENYNTVSPSQLLDFLSGKQYAVGDETDLS
  IPTSPTSKYNRDNEKVQLLARKIIFSYLNLLVNSKNDLAVAYILNIPDRGLGREAFTDLKHAAREKQMSIFLVAT
  SFIRTIELGGKGYAPPPSDPLRTHVKGLSNFINFIDKLDEILGEIPNPSIAGGQILSVIKMQLIKGQNSRDPFCK
  AIEEVAQDLDLRIKNIINSQEGVVALSTTDISPARPKSHAINHGTAYCGRDTVKALLVLLDEEAANAPTKNKAEL
  LYDEENTIHHHGTSILTLFRSPTQVNNSIKPLRERICVSMQEKKIKMKQTLIRSQFACTYKDDYMISKDNWNNVN
  LASKPLCVLYMENDLSEGVNPSVGRSTIGTSFGNVHLDRSKNEKVSRKSTSQTGNKSSKRKQVDLDGENILCDNR
  NEPPQHKNAKIPKKSNDSQNRLYGKLAKVAKSNKCTAKDKLISGQAKLTQFFRL

• Structural information:
  • Interpro: IPR027417  IPR038932  
  • STRING: ENSP00000332915
• Other Databases: GeneCards:  PARPBP  Malacards:  PARPBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000785	chromatin	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq