PAXIP1 explained

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]}

Further reading

• Toward a complete human genome sequence . Genome Res. . 8 . 11 . 1097–108 . 1998 . 9847074 . 10.1101/gr.8.11.1097 . free . Sanger Centre . The . Washington University Genome Sequencing Cente . The .
• Lechner MS, Levitan I, Dressler GR . PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin . Nucleic Acids Res. . 28 . 14 . 2741–51 . 2000 . 10908331 . 102659 . 10.1093/nar/28.14.2741 .
• Hoffmeister A, Ropolo A, Vasseur S, Mallo GV, Bodeker H, Ritz-Laser B, Dressler GR, Vaccaro MI, Dagorn JC, Moreno S, Iovanna JL . 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 . 11940591 . 10.1074/jbc.M201657200 . free .
• Cho EA, Prindle MJ, Dressler GR . BRCT domain-containing protein PTIP is essential for progression through mitosis . Mol. Cell. Biol. . 23 . 5 . 1666–73 . 2003 . 12588986 . 151700 . 10.1128/MCB.23.5.1666-1673.2003 .
• Manke IA, Lowery DM, Nguyen A, Yaffe MB . BRCT repeats as phosphopeptide-binding modules involved in protein targeting . Science . 302 . 5645 . 636–9 . 2003 . 14576432 . 10.1126/science.1088877 . 2003Sci...302..636M . 21866417 .
• Jowsey PA, Doherty AJ, Rouse J . Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation . J. Biol. Chem. . 279 . 53 . 55562–9 . 2004 . 15456759 . 10.1074/jbc.M411021200 . free .
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K . PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex . J. Biol. Chem. . 282 . 28 . 20395–406 . 2007 . 17500065 . 2729684 . 10.1074/jbc.M701574200 . free .
• Munoz IM, Jowsey PA, Toth R, Rouse J . 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 . 17690115 . 2018624 . 10.1093/nar/gkm493 .

Notes and References

1. Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA . cDNAs with long CAG trinucleotide repeats from human brain . Hum. Genet. . 100 . 1 . 114–22 . July 1997 . 9225980 . 10.1007/s004390050476 . 25999127 .
2. Web site: Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1.
3. Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E . 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 . 25706306 . 10.1001/jamaneurol.2014.4040 . 4397175.
4. Lechner MS, Levitan I, Dressler GR . 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 . 10908331 . 102659 . 10.1093/nar/28.14.2741 .
5. Jowsey PA, Doherty AJ, Rouse J . Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation . J. Biol. Chem. . 279 . 53 . 55562–9 . December 2004 . 15456759 . 10.1074/jbc.M411021200 . free .
6. Manke IA, Lowery DM, Nguyen A, Yaffe MB . BRCT repeats as phosphopeptide-binding modules involved in protein targeting . Science . 302 . 5645 . 636–9 . October 2003 . 14576432 . 10.1126/science.1088877 . 2003Sci...302..636M . 21866417 .