| Gene Symbol |
PAXIP1
|
| Entrez Gene |
22976
|
| Alt Symbol |
CAGF28, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
PAX interacting (with transcription-activation domain) protein 1
|
| Other Description |
PAX transcription activation domain interacting protein 1 like|PAX-interacting protein 1|protein encoded by CAG trinucleotide repeats
|
| Swissprots |
Q7Z315 Q6ZWH9 O15404 Q6N099 Q6ZW49 Q86UN0 Q96HP2 Q8N4P9
|
| Accessions |
AAP21865 EAX04524 EAX04525 Q6ZW49 AK093584 AK123044 BAC85523 AK123600 BAC85657 AK126674 BAG54355 AK293744 BAG57167 AK307417 BC008328 AAH08328 BC033781 AAH33781 BQ222021 BX538201 CAD98066 BX640616 CAE45762 CR993144 U80735 AAB91434 XM_005249539 XP_005249596 XM_011515982 XP_011514284 XM_011515983 XP_011514285 XM_011515984 XP_011514286 NM_007349 NP_031375
|
| Function |
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. Recruits PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probbaly independent of MLL-containing histone methyltransferase (HMT) complexes. Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chroma
|
| Subcellular Location |
Nucleus matrix {ECO:0000250}. Note=Localizes to DNA damage foci upon ionizing radiation. {ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115}.
|