DegronMD - O15553(MEFV)

FUNCTION: Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:16037825, PubMed:27030597, PubMed:28835462, PubMed:16785446, PubMed:17431422, PubMed:26347139). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy (PubMed:16785446, PubMed:17431422, PubMed:26347139). Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it can also have a positive effect in the inflammatory pathway, acting as an innate immune sensor that triggers PYCARD/ASC specks formation, caspase-1 activation, and IL1B and IL18 production (PubMed:16037825, PubMed:27030597, PubMed:28835462). Together with AIM2, also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). It is required for PSTPIP1-induced PYCARD/ASC oligomerization and inflammasome formation (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). {ECO:0000250|UniProtKB:Q9JJ26, ECO:0000269|PubMed:10807793, ECO:0000269|PubMed:11468188, ECO:0000269|PubMed:16037825, ECO:0000269|PubMed:16785446, ECO:0000269|PubMed:17431422, ECO:0000269|PubMed:17964261, ECO:0000269|PubMed:18577712, ECO:0000269|PubMed:19109554, ECO:0000269|PubMed:19584923, ECO:0000269|PubMed:26347139, ECO:0000269|PubMed:27030597, ECO:0000269|PubMed:28835462}. View more >>

GO - Biological processes (BP): View more >>

GO - Molecular function (MF): View more >>

GO - Cellular component (CC): View more >>

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Open in full screen with detailed sequence annotations

Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.G719V	TCGA-A8-A07U	BRCA	TCGA	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation altering degron motif	0.6421
p.G719V	TCGA-A8-A07U	BRCA	TCGA	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.6421
p.Q97E	TCGA-CC-A7IK	LIHC	TCGA	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1111
p.Q97E	DO52184	LIHC	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1111
p.Q97E	DO46336	OV	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1111
p.G727A	TCGA-DK-A1AC	BLCA	TCGA	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.2222
p.G727A	TCGA-DK-A1AC	BLCA	TCGA	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.2222
p.G727A	TCGA-DK-A1AC	BLCA	TCGA	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.2778
p.T96I	TCGA-DM-A0XF	COAD	TCGA	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.0833
p.T96I	DO9258	COAD	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.0833
p.E112K	TCGA-EE-A2GD	SKCM	TCGA	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.25
p.E112K	DO37603	SKCM	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.25
p.S730F	TCGA-FW-A3R5	SKCM	TCGA	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.1389
p.S730F	TCGA-FW-A3R5	SKCM	TCGA	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.1389
p.S730F	TCGA-FW-A3R5	SKCM	TCGA	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.1944
p.D723N	TCGA-GF-A3OT	SKCM	TCGA	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation altering degron motif	0.6932
p.D723N	TCGA-GF-A3OT	SKCM	TCGA	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.6932
p.D723N	TCGA-GF-A3OT	SKCM	TCGA	DYR	CBL_MET	723:725	Mutation altering degron motif	0.6932
p.A106T	TCGA-J2-8194	LUAD	TCGA	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.6028
p.A106T	DO23971	LUAD	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.6028
p.D110H	DO51906	BLCA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.N113K	DO52699	CLLE	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.2222
p.G114C	DO8119	COAD	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation substituting flanking lysine	0.3056
p.G114C	DO37770	SKCM	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation substituting flanking lysine	0.3056
p.R103H	DO50092	COAD	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.2778
p.R103H	DO234260	ESAD	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.2778
p.R103H	DO42985	UCEC	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.2778
p.R103C	DO230311	COCA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.2778
p.L110P	DO229003	COCA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	DO229505	LAML	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00234	Other Solid Cancers	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00075	Non-Cancerous	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00411	Pancreatic Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00370	T-Lymphoblastic Leukemia	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00231	Kidney Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00374	B-Cell Non-Hodgkin's Lymphoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00040	Gastric Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00492	Glioblastoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00301	Pancreatic Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00596	Endometrial Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00606	Squamous Cell Lung Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00054	Pancreatic Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00410	Other Blood Cancers	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01653	Non-Cancerous	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00207	Glioblastoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00618	Hepatocellular Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00989	Bladder Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00616	Hepatocellular Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00324	Neuroblastoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00045	Gastric Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00603	Head and Neck Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01727	Chronic Myelogenous Leukemia	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01439	Hepatocellular Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01609	Endometrial Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01463	Endometrial Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01578	Bladder Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01336	Glioblastoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01776	Plasma Cell Myeloma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01469	Pancreatic Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00163	Biliary Tract Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01445	Gastric Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01446	Glioblastoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01450	Gastric Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01433	Kidney Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01321	Pancreatic Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM00959	Acute Myeloid Leukemia	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01662	Plasma Cell Myeloma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01694	B-Lymphoblastic Leukemia	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.L110P	SIDM01618	B-Lymphoblastic Leukemia	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.3056
p.A106E	DO229022	LICA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.659
p.H105N	DO229027	LICA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.7423
p.T98K	DO229034	LICA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1389
p.R118C	DO48742	LIRI	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.0833
p.R118S	DO45515	LUSC	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.0833
p.G109E	DO220886	MELA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.7199
p.G109E	DO50288	SKCM	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.7199
p.T98M	DO49820	PRAD	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1389
p.G114D	DO229502	SKCA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation substituting flanking lysine	0.3056
p.D103N	DO229502	SKCA	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.2778
p.E108K	DO37531	SKCM	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.7022
p.T115I	DO50284	SKCM	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1667
p.G109V	DO47665	SKCM	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation altering degron motif	0.7532
p.A100V	DO43971	UCEC	ICGC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1944
p.R708C	SIDM00461	Acute Myeloid Leukemia	GDSC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.0556
p.R708C	SIDM00461	Acute Myeloid Leukemia	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.0833
p.R708C	OCI-AML5	haematopoietic and lymphoid tissue	COSMIC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.0556
p.R708C	OCI-AML5	haematopoietic and lymphoid tissue	COSMIC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.0833
p.R717C	SIDM00945	Colorectal Carcinoma	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.8301
p.R717C	CL-34	large intestine	COSMIC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.8301
p.V726A	SIDM01120	Other Solid Cancers	GDSC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.25
p.V726A	SIDM01120	Other Solid Cancers	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.25
p.V726A	SIDM01120	Other Solid Cancers	GDSC	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.3056
p.V726A	SIDM00941	Kidney Carcinoma	GDSC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.25
p.V726A	SIDM00941	Kidney Carcinoma	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.25
p.V726A	SIDM00941	Kidney Carcinoma	GDSC	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.3056
p.V726A	SIDM00140	Melanoma	GDSC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation rewiring degron network	0.25
p.V726A	SIDM00140	Melanoma	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation rewiring degron network	0.25
p.V726A	SIDM00140	Melanoma	GDSC	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.3056
p.F721Y	SIDM00893	Breast Carcinoma	GDSC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation altering degron motif	0.6417
p.F721Y	SIDM00893	Breast Carcinoma	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.6417
p.F721Y	BT-20	breast	COSMIC	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation altering degron motif	0.6417
p.F721Y	BT-20	breast	COSMIC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.6417
p.R717P	SIDM00927	Small Cell Lung Carcinoma	GDSC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.7512
p.R717P	NCI-H510A	lung	COSMIC	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.7512
p.T735A	SIDM00534	Colorectal Carcinoma	GDSC	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.0556
p.T735A	HT-115	large intestine	COSMIC	DYR	CBL_MET	723:725	Mutation rewiring degron network	0.0556
p.P115R	SIDM01612	Endometrial Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1667
p.P115R	SIDM01770	Gastric Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1667
p.D723E	ACH-000681	Lung Cancer	CCLE	VGIFVD	LIG_APCC_ABBA_1	718:723	Mutation altering degron motif	0.5647
p.D723E	ACH-000681	Lung Cancer	CCLE	RVGIFVD	LIG_APCC_ABBAyCdc20_2	717:723	Mutation altering degron motif	0.5647
p.D723E	ACH-000681	Lung Cancer	CCLE	DYR	CBL_MET	723:725	Mutation altering degron motif	0.6758
p.C116R	22RV1	prostate	COSMIC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.1389
p.R118G	NCI-H322M	lung	COSMIC	AASSS	DEG_SPOP_SBC_1	105:109	Mutation rewiring degron network	0.0833

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

MEFV

UniProt ID: O15553

Entrez ID: 4210

Protein name: Pyrin (Marenostrin)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for MEFV in