PAXIP1

PAXIP1
Identifiers
Aliases	PAXIP1, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2, CAGF28, PAX interacting protein 1
External IDs	OMIM: 608254; MGI: 1890430; GeneCards: PAXIP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3SQD
Gene location (Human)
Chr.	Chromosome 7 (human)
End	155,003,124 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	27,996,689 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; cerebellar hemisphere; ; ventricular zone; ; right hemisphere of cerebellum; ; corpus epididymis; ; thymus; ; cerebellar vermis; ; cartilage tissue; ; embryo; ; ganglionic eminence;
	Top expressed in
	tail of embryo; ; genital tubercle; ; epiblast; ; ventricular zone; ; zygote; ; islet of Langerhans; ; thymus; ; otic placode; ; spermatid; ; primitive streak;
	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
Databases	NCBI: entry; OMA: entry
	22976
	55982
	ENSG00000157212
	ENSMUSG00000002221
	Q6ZW49
	Q6NZQ4
	NM_007349
	NM_018878
	NP_031375
	NP_061366
	Wikidata
View/Edit Human	View/Edit Mouse

PAX-interacting protein 1 is a protein that in humans is encoded by the PAXIP1 gene.^[5]^[6]

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.^[6] Protein-affecting variants have also been implicated in Alzheimer's disease.^[7]

Interactions

PAXIP1 has been shown to interact with PAX2^[8] and TP53BP1.^[9]^[10]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002221 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse 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, et al. (July 1997). "cDNAs with long CAG trinucleotide repeats from human brain". Human Genetics. 100 (1): 114–122. doi:10.1007/s004390050476. PMID 9225980. S2CID 25999127.
1 2 "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1".
↑ Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy". JAMA Neurology. 72 (4): 414–422. 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 Research. 28 (14): 2741–2751. 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". The Journal of Biological Chemistry. 279 (53): 55562–55569. 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). New York, N.Y.: 636–639. Bibcode:2003Sci...302..636M. doi:10.1126/science.1088877. PMID 14576432. S2CID 21866417.

The Sanger Centre, The Washington University Genome Sequencing Center (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Hoffmeister A, Ropolo A, Vasseur S, Mallo GV, Bodeker H, Ritz-Laser B, et al. (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". The Journal of Biological Chemistry. 277 (25): 22314–22319. 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". Molecular and Cellular Biology. 23 (5): 1666–1673. doi:10.1128/MCB.23.5.1666-1673.2003. PMC 151700. PMID 12588986.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, et al. (2007). "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex". The Journal of Biological Chemistry. 282 (28): 20395–20406. 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 Research. 35 (16): 5312–5322. 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 adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002221 – Ensembl, May 2017

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

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

[Margolis_1997-5] Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, et al. (July 1997). "cDNAs with long CAG trinucleotide repeats from human brain". Human Genetics. 100 (1): 114–122. doi:10.1007/s004390050476. PMID 9225980. S2CID 25999127.

[entrez-6] 1 2 "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1".

[7] Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy". JAMA Neurology. 72 (4): 414–422. doi:10.1001/jamaneurol.2014.4040. PMC 4397175. PMID 25706306.

[Lechner_2000-8] 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 Research. 28 (14): 2741–2751. doi:10.1093/nar/28.14.2741. PMC 102659. PMID 10908331.

[Jowsey_2004-9] Jowsey PA, Doherty AJ, Rouse J (December 2004). "Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation". The Journal of Biological Chemistry. 279 (53): 55562–55569. doi:10.1074/jbc.M411021200. PMID 15456759.

[Manke_2003-10] Manke IA, Lowery DM, Nguyen A, Yaffe MB (October 2003). "BRCT repeats as phosphopeptide-binding modules involved in protein targeting". Science. 302 (5645). New York, N.Y.: 636–639. Bibcode:2003Sci...302..636M. doi:10.1126/science.1088877. PMID 14576432. S2CID 21866417.

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PAXIP1

Function

Interactions

References

Further reading