PAXIP1 (PAX interacting protein 1)

2011-02-01  

Identity

HGNC
LOCATION
7q36.2
LOCUSID
ALIAS
CAGF28,CAGF29,PACIP1,PAXIP1L,PTIP,TNRC2
FUSION GENES

Other Information

Locus ID:

NCBI: 22976
MIM: 608254
HGNC: 8624
Ensembl: ENSG00000157212

Variants:

dbSNP: 22976
ClinVar: 22976
TCGA: ENSG00000157212
COSMIC: PAXIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157212ENST00000397192Q6ZW49
ENSG00000157212ENST00000404141Q6ZW49
ENSG00000157212ENST00000419436H7BZI8
ENSG00000157212ENST00000457196F8WC23

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
145764322003BRCT repeats as phosphopeptide-binding modules involved in protein targeting.262
175000652007PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.252
195839512009Histone methylation regulator PTIP is required for PPARgamma and C/EBPalpha expression and adipogenesis.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
255125572014PTIP associates with Artemis to dictate DNA repair pathway choice.47
176901152007Phospho-epitope binding by the BRCT domains of hPTIP controls multiple aspects of the cellular response to DNA damage.43
191244602009Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.37
154567592004Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation.36
119405912002The 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.26
194145882009PTIP regulates 53BP1 and SMC1 at the DNA damage sites.22

Citation

Dessen P

PAXIP1 (PAX interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52076/paxip1