PAXIP1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1902749Biological processregulation of cell cycle G2/M phase transition
GO_0060717Biological processchorion development
GO_0006281Biological processDNA repair
GO_0010212Biological processresponse to ionizing radiation
GO_0001570Biological processvasculogenesis
GO_0043433Biological processnegative regulation of DNA-binding transcription factor activity
GO_0006338Biological processchromatin remodeling
GO_0060261Biological processpositive regulation of transcription initiation by RNA polymerase II
GO_0030330Biological processDNA damage response, signal transduction by p53 class mediator
GO_0048304Biological processpositive regulation of isotype switching to IgG isotypes
GO_0043542Biological processendothelial cell migration
GO_0060612Biological processadipose tissue development
GO_0031398Biological processpositive regulation of protein ubiquitination
GO_0006310Biological processDNA recombination
GO_0045830Biological processpositive regulation of isotype switching
GO_0035097Cellular componenthistone methyltransferase complex
GO_0005654Cellular componentnucleoplasm
GO_0016363Cellular componentnuclear matrix
GO_0044666Cellular componentMLL3/4 complex
GO_0005694Cellular componentchromosome
GO_0005634Cellular componentnucleus
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene namePAXIP1
Protein namePAX-interacting protein 1 (PAX transactivation activation domain-interacting protein)
SynonymsPAXIP1L
CAGF28
PTIP
DescriptionFUNCTION: 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 (By similarity). 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 (By similarity). .

AccessionsENST00000457196.5
H7BZI8
ENST00000404141.6 [Q6ZW49-6]
ENST00000419436.1
F8WC23
Q6ZW49