DegronMD - O43918(AIRE)

FUNCTION: Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity). {ECO:0000250|UniProtKB:Q9Z0E3, ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:18292755, ECO:0000269|PubMed:26084028, ECO:0000305|PubMed:19302042, ECO:0000305|PubMed:26972725}. View more >>

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

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

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

Choose a PDB ID:
Open in full screen with detailed sequence annotations

Data table is loading....

Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.E237K	TCGA-AZ-4315	COAD	TCGA	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	TCGA-BS-A0UV	UCEC	TCGA	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	TCGA-DD-A3A9	LIHC	TCGA	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	TCGA-JW-A5VL	CESC	TCGA	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	DO49976	CESC	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	DO8842	COAD	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	DO44888	LIHC	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	DO42793	UCEC	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	SIDM00225	Melanoma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	ACH-002143	Skin Cancer	CCLE	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.E237K	IST-MEL1	skin	COSMIC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0833
p.G255D	DO233197	GACA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1944
p.R249C	DO228585	LICA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation altering degron motif	0.8301
p.G260R	DO228520	LICA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0556
p.G260R	DO42312	UCEC	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.0556
p.V256F	DO229019	LICA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1667
p.A244T	DO228138	PBCA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.R238W	DO232761	PBCA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1111
p.P253S	DO48665	SKCM	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation substituting flanking lysine	0.3611
p.R238L	DO47623	SKCM	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1111
p.R249H	DO48016	STAD	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation altering degron motif	0.8244
p.A243T	DO47767	STAD	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation substituting flanking lysine	0.3611
p.F246S	DO229264	THCA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation altering degron motif	0.7982
p.S241I	DO229213	THCA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1944
p.P254S	DO229242	THCA	ICGC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2222
p.P252L	SIDM00773	Non-Cancerous	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.P252L	SIDM00878	Breast Carcinoma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.P252L	SIDM00954	Breast Carcinoma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.P252L	SIDM00431	T-Lymphoblastic Leukemia	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.P252L	SIDM00774	Breast Carcinoma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.P252L	SIDM01318	Hepatocellular Carcinoma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.2778
p.L255P	SIDM01220	Glioma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1944
p.L255P	ACH-000760	Brain Cancer	CCLE	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1944
p.L255P	ACH-002269	Brain Cancer	CCLE	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1944
p.L255P	LNZTA3WT4	central nervous system	COSMIC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation rewiring degron network	0.1944
p.R247H	SIDM01617	Endometrial Carcinoma	GDSC	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation altering degron motif	0.7133
p.S250C	ACH-001433	Sarcoma	CCLE	ARSSS	DEG_SPOP_SBC_1	246:250	Mutation altering degron motif	0.7541

Kaplan plot for AIRE in

Select cancer type:
Download patient class data (Lower:Upper = 50%:50%)

*NOTE: the Kaplan plots were collected from OncoLnc

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

AIRE

UniProt ID: O43918

Entrez ID: 326

Protein name: Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)

External links: UniprotKB HGNC RefSeq COSMIC

Data table is loading....

Kaplan plot for AIRE in