Biology:PAXIP1
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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
- ↑ "cDNAs with long CAG trinucleotide repeats from human brain". Hum. Genet. 100 (1): 114–22. July 1997. doi:10.1007/s004390050476. PMID 9225980.
- ↑ 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.
- ↑ "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.
- ↑ "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.
- ↑ "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.
- ↑ "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science 302 (5645): 636–9. October 2003. doi:10.1126/science.1088877. PMID 14576432. Bibcode: 2003Sci...302..636M.
Further reading
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1998). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- "PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin". Nucleic Acids Res. 28 (14): 2741–51. 2000. doi:10.1093/nar/28.14.2741. PMID 10908331.
- "The HMG-I/Y-related protein p8 binds to p300 and Pax2 trans-activation domain-interacting protein to regulate the trans-activation activity of the Pax2A and Pax2B transcription factors on the glucagon gene promoter". J. Biol. Chem. 277 (25): 22314–9. 2002. doi:10.1074/jbc.M201657200. PMID 11940591.
- "BRCT domain-containing protein PTIP is essential for progression through mitosis". Mol. Cell. Biol. 23 (5): 1666–73. 2003. doi:10.1128/MCB.23.5.1666-1673.2003. PMID 12588986.
- "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science 302 (5645): 636–9. 2003. doi:10.1126/science.1088877. PMID 14576432. Bibcode: 2003Sci...302..636M.
- "Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation". J. Biol. Chem. 279 (53): 55562–9. 2004. doi:10.1074/jbc.M411021200. PMID 15456759.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex". J. Biol. Chem. 282 (28): 20395–406. 2007. doi:10.1074/jbc.M701574200. PMID 17500065.
- "Phospho-epitope binding by the BRCT domains of hPTIP controls multiple aspects of the cellular response to DNA damage". Nucleic Acids Res. 35 (16): 5312–22. 2007. doi:10.1093/nar/gkm493. PMID 17690115.