PAXIP1

Protein-coding gene in the species Homo sapiens
PAXIP1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3SQD

Identifiers
AliasesPAXIP1, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2, CAGF28, PAX interacting protein 1
External IDsOMIM: 608254; MGI: 1890430; HomoloGene: 133914; GeneCards: PAXIP1; OMA:PAXIP1 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for PAXIP1
Genomic location for PAXIP1
Band7q36.2Start154,943,687 bp[1]
End155,003,124 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for PAXIP1
Genomic location for PAXIP1
Band5 B1|5 13.23 cMStart27,945,078 bp[2]
End27,996,689 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
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
SpeciesHumanMouse
Entrez

22976

55982

Ensembl

ENSG00000157212

ENSMUSG00000002221

UniProt

Q6ZW49

Q6NZQ4

RefSeq (mRNA)

NM_007349

NM_018878

RefSeq (protein)

NP_031375

NP_061366

Location (UCSC)Chr 7: 154.94 – 155 MbChr 5: 27.95 – 28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ 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.
  6. ^ a b "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1".
  7. ^ 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.
  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 Res. 28 (14): 2741–51. doi:10.1093/nar/28.14.2741. PMC 102659. PMID 10908331.
  9. ^ 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.
  10. ^ 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

  • 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.


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