PAXIP1
entrez
22976
canonical
uniprot
Q6ZW49
canonical
ensembl
ENSG00000157212
resolver
ensp
ENSP00000384048
resolver
genesymbol
PAXIP1
resolver
genesymbol_syn
PAXIP1L
resolver
genesymbol_syn
PTIP
resolver
hgnc
HGNC:8624
resolver
uniprot
O15404
resolver
uniprot
Q6N099
resolver
uniprot
Q6ZWH9
resolver
uniprot
Q7Z315
resolver
uniprot
Q86UN0
resolver
uniprot
Q8N4P9
resolver
uniprot
Q96HP2
resolver
uniprot_entry
PAXI1_HUMAN
resolver
uniprot_sec
O15404
resolver
uniprot_sec
Q6N099
resolver
uniprot_sec
Q6ZWH9
resolver
uniprot_sec
Q7Z315
resolver
uniprot_sec
Q86UN0
resolver
uniprot_sec
Q8N4P9
resolver
uniprot_sec
Q96HP2
resolver
amino_acid_sequence
MSDQAPKVPEEMFREVKYYAVGDIDPQVIQLLKAGKAKEVSYNALASHIISEDGDNPEVGEAREVFDLPVVKPSWVILSVQCGTLLPVNGFSPESCQIFFGITACLSQVSSEDRSALWALVTFYGGDCQLTLNKKCTHLIVPEPKGEKYECALKRASIKIVTPDWVLDCVSEKTKKDEAFYHPRLIIYEEEEEEEEEEEEVENEEQDSQNEGSTDEKSSPASSQEGSPSGDQQFSPKSNTEKSKGELMFDDSSDSSPEKQERNLNWTPAEVPQLAAAKRRLPQGKEPGLINLCANVPPVPGNILPPEVRGNLMAAGQNLQSSERSEMIATWSPAVRTLRNITNNADIQQMNRPSNVAHILQTLSAPTKNLEQQVNHSQQGHTNANAVLFSQVKVTPETHMLQQQQQAQQQQQQHPVLHLQPQQIMQLQQQQQQQISQQPYPQQPPHPFSQQQQQQQQAHPHQFSQQQLQFPQQQLHPPQQLHRPQQQLQPFQQQHALQQQFHQLQQHQLQQQQLAQLQQQHSLLQQQQQQQIQQQQLQRMHQQQQQQQMQSQTAPHLSQTSQALQHQVPPQQPPQQQQQQQPPPSPQQHQLFGHDPAVEIPEEGFLLGCVFAIADYPEQMSDKQLLATWKRIIQAHGGTVDPTFTSRCTHLLCESQVSSAYAQAIRERKRCVTAHWLNTVLKKKKMVPPHRALHFPVAFPPGGKPCSQHIISVTGFVDSDRDDLKLMAYLAGAKYTGYLCRSNTVLICKEPTGLKYEKAKEWRIPCVNAQWLGDILLGNFEALRQIQYSRYTAFSLQDPFAPTQHLVLNLLDAWRVPLKVSAELLMSIRLPPKLKQNEVANVQPSSKRARIEDVPPPTKKLTPELTPFVLFTGFEPVQVQQYIKKLYILGGEVAESAQKCTHLIASKVTRTVKFLTAISVVKHIVTPEWLEECFRCQKFIDEQNYILRDAEAEVLFSFSLEESLKRAHVSPLFKAKYFYITPGICPSLSTMKAIVECAGGKVLSKQPSFRKLMEHKQNSSLSEIILISCENDLHLCREYFARGIDVHNAEFVLTGVLTQTLDYESYKFN
uniprot
proteins
function
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. 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). {ECO:0000250|UniProtKB:Q6NZQ4, ECO:0000269|PubMed:14576432, ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115, ECO:0000269|PubMed:17925232, ECO:0000269|PubMed:18353733, ECO:0000269|PubMed:20088963, ECO:0000269|PubMed:23727112}.
uniprot
proteins
mass_dalton
121341
uniprot
proteins
mutagenesis
MUTAGEN 676; /note="W->A: Abolishes interaction with TP53BP1; prevents recruitment to DNA damage foci."; /evidence="ECO:0000269|PubMed:17690115"; MUTAGEN 910; /note="R->Q: Abolishes interaction with TP53BP1; impairs intact cellular response to DNA damage."; /evidence="ECO:0000269|PubMed:17690115"; MUTAGEN 929; /note="W->A: Abolishes interaction with TP53BP1; prevents recruitment to DNA damage foci."; /evidence="ECO:0000269|PubMed:17690115
uniprot
proteins
pubmed
11940591
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14576432
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15456759
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17178841
uniprot
proteins
pubmed
17500065
uniprot
proteins
pubmed
17690115
uniprot
proteins
pubmed
17761849
uniprot
proteins
pubmed
17925232
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18353733
uniprot
proteins
pubmed
19723507
uniprot
proteins
pubmed
20088963
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23727112
uniprot
proteins
pubmed
9225980
uniprot
proteins
sequence_length
1069
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250|UniProtKB:Q6NZQ4}. Chromosome {ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115}. Note=Localizes to DNA damage foci upon ionizing radiation. {ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115}.
uniprot
proteins