PAXIP1 Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned. Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage
Chromosomal Location of Human Ortholog: 7q36.2
Cellular Component:  chromosome; histone methyltransferase complex; MLL3/4 complex; nuclear matrix; nucleoplasm; nucleus
Molecular Function:  protein binding
Biological Process:  adipose tissue development; chorion development; DNA damage response, signal transduction by p53 class mediator; DNA recombination; double-strand break repair via nonhomologous end joining; endothelial cell migration; histone H3-K4 methylation; negative regulation of DNA-binding transcription factor activity; positive regulation of histone acetylation; positive regulation of histone H3-K36 methylation; positive regulation of histone H3-K4 methylation; positive regulation of isotype switching; positive regulation of isotype switching to IgG isotypes; positive regulation of protein ubiquitination; positive regulation of response to DNA damage stimulus; positive regulation of transcription initiation from RNA polymerase II promoter; regulation of cell cycle G2/M phase transition; response to ionizing radiation; vasculogenesis
Disease: Alzheimer Disease
Reference #:  Q6ZW49 (UniProtKB)
Alt. Names/Synonyms: CAGF28; CAGF29; FLJ41049; PACIP1; PAX interacting (with transcription-activation domain) protein 1; PAX interacting protein 1; PAX transactivation activation domain-interacting protein; PAX transcription activation domain interacting protein 1 like; PAX-interacting protein 1; PAXI1; PAXIP1; PAXIP1L; protein encoded by CAG trinucleotide repeats; PTIP; TNRC2
Gene Symbols: PAXIP1
Molecular weight: 121,341 Da
Basal Isoelectric point: 6.24  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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