DegronMD - P46100(ATRX)

FUNCTION: Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610). {ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:21029860, ECO:0000269|PubMed:22391447, ECO:0000269|PubMed:22829774, ECO:0000269|PubMed:24500201, ECO:0000269|PubMed:27029610}. 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.Y2002H	TCGA-AJ-A3EL	UCEC	TCGA	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking phosphorylation signal	0.5
p.R1342W	TCGA-AJ-A3EL	UCEC	TCGA	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation rewiring degron network	0.1389
p.D547N	TCGA-AP-A0LM	UCEC	TCGA	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.0833
p.S549N	TCGA-AZ-6598	COAD	TCGA	VESSS	DEG_SPOP_SBC_1	556:560	Mutation blocking phosphorylation signal	0.5833
p.D1349E	TCGA-BR-8366	STAD	TCGA	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.6758
p.W2001R	TCGA-CK-6746	COAD	TCGA	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.0833
p.G1350E	TCGA-DU-6392	LGG	TCGA	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.6087
p.G1350E	DO41871	UCEC	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.6087
p.P1999S	TCGA-F4-6570	COAD	TCGA	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.1389
p.K1344E	TCGA-FI-A2D0	UCEC	TCGA	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation substituting flanking lysine	0.3056
p.G564D	DO1285	BRCA	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.R1990P	DO2377	BRCA	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation altering degron motif	0.7512
p.F1346L	DO4134	BRCA	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation blocking phosphorylation signal	0.6944
p.L552I	DO222986	BTCA	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.L552I	DO228881	LICA	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.S558F	DO51624	CESC	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation altering degron motif	0.7982
p.E547K	DO8730	COAD	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.0833
p.L1989I	DO222762	COCA	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation altering degron motif	0.7174
p.H1978R	DO233058	GACA	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.0556
p.R1363Q	DO233790	GACA	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation rewiring degron network	0.0833
p.R1363Q	DO43218	UCEC	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation rewiring degron network	0.0833
p.P1364S	DO10880	GBM	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation substituting flanking lysine	0.1667
p.L1989P	DO219849	LGG	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation altering degron motif	0.7582
p.L1989P	DO22518	LGG	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation altering degron motif	0.7582
p.K1981E	DO22437	LGG	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.1389
p.K1981E	DO22629	LGG	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.1389
p.Q568K	DO229031	LICA	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation blocking ubiquitination signal	0.5556
p.V1999I	DO229255	LMS	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.1389
p.V570F	DO26590	LUSC	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.0556
p.S1979P	DO45869	NBL	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.0833
p.S560F	DO51699	PAAD	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation altering degron motif	0.7982
p.K1981T	DO228173	PBCA	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.1389
p.M1982V	DO228173	PBCA	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking ubiquitination signal	0.6111
p.L2000R	DO232761	PBCA	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.1111
p.E1993V	DO220096	SARC	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.3056
p.S1344Y	DO37543	SKCM	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation substituting flanking lysine	0.3056
p.M1982I	DO37471	SKCM	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking ubiquitination signal	0.6111
p.E1354D	DO229227	THCA	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.6758
p.D1345A	DO40884	UCEC	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation rewiring degron network	0.2222
p.S1352C	DO40924	UCEC	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.8652
p.S1352T	DO40924	UCEC	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.7116
p.I1988T	DO43306	UCEC	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation altering degron motif	0.7078
p.E1359K	DO41020	UCEC	ICGC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation blocking ubiquitination signal	0.6389
p.L1985I	DO41584	UCEC	ICGC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.25
p.G564C	DO43907	UCEC	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.E569D	DO41458	UCEC	ICGC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.0833
p.N564S	SIDM01189	Glioblastoma	GDSC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.N564S	ACH-000075	Brain Cancer	CCLE	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.N564S	U-87-MG	central nervous system	COSMIC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2222
p.S550T	SIDM00203	Ewing's Sarcoma	GDSC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation blocking phosphorylation signal	0.6111
p.S550T	ACH-002111	Bone Cancer	CCLE	VESSS	DEG_SPOP_SBC_1	556:560	Mutation blocking phosphorylation signal	0.6111
p.S550T	EW-11	bone	COSMIC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation blocking phosphorylation signal	0.6111
p.G551V	SIDM00265	Ewing's Sarcoma	GDSC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.1944
p.G551V	ES3	bone	COSMIC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.1944
p.K1982E	SIDM00604	Oral Cavity Carcinoma	GDSC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking ubiquitination signal	0.6111
p.K1982E	ACH-001542	Head and Neck Cancer	CCLE	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking ubiquitination signal	0.6111
p.K1982E	KON	upper aerodigestive tract	COSMIC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking ubiquitination signal	0.6111
p.S1980C	SIDM01578	Bladder Carcinoma	GDSC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking phosphorylation signal	0.5556
p.S1980C	ACH-000862	Bladder Cancer	CCLE	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation blocking phosphorylation signal	0.5556
p.R1339M	ACH-000961	Endometrial/Uterine Cancer	CCLE	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation rewiring degron network	0.0556
p.L557F	COLO-783	skin	COSMIC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation altering degron motif	0.6981
p.Q568E	HCC38	breast	COSMIC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation blocking ubiquitination signal	0.5556
p.S1979C	UACC-62	skin	COSMIC	ATSSS	DEG_SPOP_SBC_1	1988:1992	Mutation rewiring degron network	0.0833
p.E1353K	MCC13	skin	COSMIC	DGESGE	DEG_Kelch_Keap1_1	1349:1354	Mutation altering degron motif	0.7022
p.P554H	CW-2	large intestine	COSMIC	VESSS	DEG_SPOP_SBC_1	556:560	Mutation rewiring degron network	0.2778

Kaplan plot for ATRX 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

ATRX

UniProt ID: P46100

Entrez ID: 546

Protein name: Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX)

External links: UniprotKB HGNC RefSeq COSMIC

Data table is loading....

Kaplan plot for ATRX in