PAXIP1

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PAXIP1
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases PAXIP1, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2, CAGF28, PAX interacting protein 1
External IDs HomoloGene: 133914 GeneCards: PAXIP1
RNA expression pattern
PBB GE PAXIP1 212825 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007349

n/a

RefSeq (protein)

NP_031375

n/a

Location (UCSC) Chr 7: 154.94 – 155 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

PAX-interacting protein 1 is a protein that in humans is encoded by the PAXIP1 gene.[2][3]

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

Interactions[edit]

PAXIP1 has been shown to interact with PAX2[5] and TP53BP1.[6][7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: PAXIP1 PAX interacting (with transcription-activation domain) protein 1". 
  4. ^ 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. PMID 25706306. 
  5. ^ 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 102659Freely accessible. PMID 10908331. 
  6. ^ 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. 
  7. ^ 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. doi:10.1126/science.1088877. PMID 14576432. 

Further reading[edit]