PAXIP1

PAXIP1
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	3SQD
Identifiers
Aliases	PAXIP1, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2, CAGF28, PAX interacting protein 1
External IDs	OMIM: 608254 HomoloGene: 133914 GeneCards: PAXIP1
Gene location (Human)
Chr.	Chromosome 7 (human)
End	155,003,124 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; cerebellar hemisphere; ; corpus epididymis; ; thymus; ; cerebellar vermis; ; embryo; ; ganglionic eminence; ; caput epididymis; ; palpebral conjunctiva; ; trabecular bone;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	nuclear matrix; nucleoplasm; MLL3/4 complex; nucleus; histone methyltransferase complex; chromosome;
Biological process	response to ionizing radiation; positive regulation of histone H3-K36 methylation; DNA recombination; regulation of transcription, DNA-templated; chorion development; DNA damage response, signal transduction by p53 class mediator; transcription, DNA-templated; positive regulation of histone acetylation; cellular response to DNA damage stimulus; vasculogenesis; positive regulation of isotype switching; histone H3-K4 methylation; positive regulation of histone H3-K4 methylation; adipose tissue development; double-strand break repair via nonhomologous end joining; positive regulation of protein ubiquitination; endothelial cell migration; DNA repair; positive regulation of transcription initiation from RNA polymerase II promoter; regulation of cell cycle G2/M phase transition; positive regulation of isotype switching to IgG isotypes; positive regulation of response to DNA damage stimulus; negative regulation of DNA-binding transcription factor activity;
	Sources:Amigo / QuickGO
Orthologs
	22976
	n/a
	ENSG00000157212
	n/a
	Q6ZW49
	n/a
	NM_007349
	n/a
	NP_031375
	n/a
	Wikidata
View/Edit Human

PAX-interacting protein 1 is a protein that in humans is encoded by the PAXIP1 gene.^[3]^[4]

Function[edit]

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.^[4] Protein-affecting variants have also been implicated in Alzheimer's disease.^[5]

Interactions[edit]

PAXIP1 has been shown to interact with PAX2^[6] and TP53BP1.^[7]^[8]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA (July 1997). "cDNAs with long CAG trinucleotide repeats from human brain". Hum. Genet. 100 (1): 114–22. doi:10.1007/s004390050476. PMID 9225980. S2CID 25999127.
^ ^a ^b "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1".
^ Chen JA, Wang Q, Davis-Turak J, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy". JAMA Neurology. 72 (4): 414–22. doi:10.1001/jamaneurol.2014.4040. PMC 4397175. PMID 25706306.
^ Lechner MS, Levitan I, Dressler GR (July 2000). "PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin". Nucleic Acids Res. 28 (14): 2741–51. doi:10.1093/nar/28.14.2741. PMC 102659. PMID 10908331.
^ Jowsey PA, Doherty AJ, Rouse J (December 2004). "Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation". J. Biol. Chem. 279 (53): 55562–9. doi:10.1074/jbc.M411021200. PMID 15456759.
^ Manke IA, Lowery DM, Nguyen A, Yaffe MB (October 2003). "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science. 302 (5645): 636–9. Bibcode:2003Sci...302..636M. doi:10.1126/science.1088877. PMID 14576432. S2CID 21866417.

Further reading[edit]

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.
Lechner MS, Levitan I, Dressler GR (2000). "PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin". Nucleic Acids Res. 28 (14): 2741–51. doi:10.1093/nar/28.14.2741. PMC 102659. PMID 10908331.
Hoffmeister A, Ropolo A, Vasseur S, Mallo GV, Bodeker H, Ritz-Laser B, Dressler GR, Vaccaro MI, Dagorn JC, Moreno S, Iovanna JL (2002). "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. doi:10.1074/jbc.M201657200. PMID 11940591.
Cho EA, Prindle MJ, Dressler GR (2003). "BRCT domain-containing protein PTIP is essential for progression through mitosis". Mol. Cell. Biol. 23 (5): 1666–73. doi:10.1128/MCB.23.5.1666-1673.2003. PMC 151700. PMID 12588986.
Manke IA, Lowery DM, Nguyen A, Yaffe MB (2003). "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science. 302 (5645): 636–9. Bibcode:2003Sci...302..636M. doi:10.1126/science.1088877. PMID 14576432. S2CID 21866417.
Jowsey PA, Doherty AJ, Rouse J (2004). "Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation". J. Biol. Chem. 279 (53): 55562–9. doi:10.1074/jbc.M411021200. PMID 15456759.
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 (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K (2007). "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex". J. Biol. Chem. 282 (28): 20395–406. doi:10.1074/jbc.M701574200. PMC 2729684. PMID 17500065.
Munoz IM, Jowsey PA, Toth R, Rouse J (2007). "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. doi:10.1093/nar/gkm493. PMC 2018624. PMID 17690115.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9225980-3] Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA (July 1997). "cDNAs with long CAG trinucleotide repeats from human brain". Hum. Genet. 100 (1): 114–22. doi:10.1007/s004390050476. PMID 9225980. S2CID 25999127.

[entrez-4] "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1".

[5] Chen JA, Wang Q, Davis-Turak J, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy". JAMA Neurology. 72 (4): 414–22. doi:10.1001/jamaneurol.2014.4040. PMC 4397175. PMID 25706306.

[pmid10908331-6] Lechner MS, Levitan I, Dressler GR (July 2000). "PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin". Nucleic Acids Res. 28 (14): 2741–51. doi:10.1093/nar/28.14.2741. PMC 102659. PMID 10908331.

[pmid15456759-7] Jowsey PA, Doherty AJ, Rouse J (December 2004). "Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation". J. Biol. Chem. 279 (53): 55562–9. doi:10.1074/jbc.M411021200. PMID 15456759.

[pmid14576432-8] Manke IA, Lowery DM, Nguyen A, Yaffe MB (October 2003). "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science. 302 (5645): 636–9. Bibcode:2003Sci...302..636M. doi:10.1126/science.1088877. PMID 14576432. S2CID 21866417.

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