DegronMD - Q6ZW49(PAXIP1)

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}. View more >>

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.R184H	TCGA-09-2053	OV	TCGA	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184H	DO31060	OV	ICGC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184H	SIDM00845	Burkitt's Lymphoma	GDSC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184H	ACH-000786	Lymphoma	CCLE	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184H	Daudi	haematopoietic and lymphoid tissue	COSMIC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.E178K	TCGA-AA-A00N	COAD	TCGA	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.1389
p.E178K	DO9876	COAD	ICGC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.1389
p.P183H	TCGA-AX-A05S	UCEC	TCGA	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.2778
p.P183H	DO43218	UCEC	ICGC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.2778
p.R184C	TCGA-FR-A726	SKCM	TCGA	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184C	TCGA-FW-A3R5	SKCM	TCGA	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184C	DO37406	SKCM	ICGC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.R184C	DO48665	SKCM	ICGC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.3056
p.E199V	DO222998	BTCA	ICGC	LIIYEE	LIG_APCC_ABBA_1	185:190	Mutation rewiring degron network	0.0833

Kaplan plot for PAXIP1 in

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*NOTE: the Kaplan plots were collected from OncoLnc

DegronMD: protein-targeted degradation, mutation and drug response to degrons

PAXIP1

UniProt ID: Q6ZW49

Entrez ID: 22976

Protein name: PAX-interacting protein 1 (PAX transactivation activation domain-interacting protein)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for PAXIP1 in