Biology:PAXIP1

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

PAX-interacting protein 1 is a protein that in humans is encoded by the PAXIP1 gene.[1][2]

Function

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis.[2] Protein-affecting variants have also been implicated in Alzheimer's disease.[3]

Interactions

PAXIP1 has been shown to interact with PAX2[4] and TP53BP1.[5][6]

References

  1. "cDNAs with long CAG trinucleotide repeats from human brain". Hum. Genet. 100 (1): 114–22. July 1997. doi:10.1007/s004390050476. PMID 9225980. 
  2. 2.0 2.1 "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22976. 
  3. "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy". JAMA Neurology 72 (4): 414–22. April 2015. doi:10.1001/jamaneurol.2014.4040. PMID 25706306. 
  4. "PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin". Nucleic Acids Res. 28 (14): 2741–51. July 2000. doi:10.1093/nar/28.14.2741. PMID 10908331. 
  5. "Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation". J. Biol. Chem. 279 (53): 55562–9. December 2004. doi:10.1074/jbc.M411021200. PMID 15456759. 
  6. "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science 302 (5645): 636–9. October 2003. doi:10.1126/science.1088877. PMID 14576432. Bibcode2003Sci...302..636M. 

Further reading