DegronMD - Q8TEQ6(GEMIN5)

FUNCTION: The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:16857593, PubMed:18984161, PubMed:20513430, PubMed:33963192). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. Within the SMN complex, GEMIN5 recognizes and delivers the small nuclear RNAs (snRNAs) to the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601, PubMed:16314521). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.27). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887). {ECO:0000269|PubMed:11714716, ECO:0000269|PubMed:16314521, ECO:0000269|PubMed:16857593, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:19377484, ECO:0000269|PubMed:19750007, ECO:0000269|PubMed:20513430, ECO:0000269|PubMed:25911097, ECO:0000269|PubMed:27507887, ECO:0000269|PubMed:27834343, ECO:0000269|PubMed:27881600, ECO:0000269|PubMed:27881601, ECO:0000269|PubMed:33963192, ECO:0000269|Ref.27}. View more >>

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.A845S	TCGA-21-1083	LUSC	TCGA	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.1944
p.A845S	DO26769	LUSC	ICGC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.1944
p.S810F	TCGA-A5-A2K5	UCEC	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation altering degron motif	0.6871
p.S810F	DO41379	UCEC	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation altering degron motif	0.6871
p.V869A	TCGA-AJ-A3EK	UCEC	TCGA	KEELHQD	LIG_APCC_ABBAyCdc20_2	860:866	Mutation rewiring degron network	0.25
p.V869A	DO41584	UCEC	ICGC	KEELHQD	LIG_APCC_ABBAyCdc20_2	860:866	Mutation rewiring degron network	0.25
p.E814Q	TCGA-AO-A0JC	BRCA	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.25
p.E814Q	DO5277	BRCA	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.25
p.A798V	TCGA-AP-A0LM	UCEC	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.1667
p.A798V	TCGA-DK-AA77	BLCA	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.1667
p.A798V	DO219014	BLCA	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.1667
p.A798V	DO43306	UCEC	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.1667
p.S757L	TCGA-AX-A0J0	UCEC	TCGA	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	TCGA-AX-A2HC	UCEC	TCGA	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	TCGA-B5-A0JY	UCEC	TCGA	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	TCGA-YG-AA3N	SKCM	TCGA	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	DO51298	SKCM	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	DO43041	UCEC	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	DO41572	UCEC	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.S757L	DO41133	UCEC	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.5278
p.C806Y	TCGA-AX-A1CE	UCEC	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation altering degron motif	0.5976
p.C806Y	DO42280	UCEC	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation altering degron motif	0.5976
p.I820V	TCGA-BH-A0B4	BRCA	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.I820V	DO4617	BRCA	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.E774Q	TCGA-DQ-5624	HNSC	TCGA	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.2222
p.E774Q	DO14158	HNSC	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.2222
p.P850S	TCGA-FW-A3R5	SKCM	TCGA	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation altering degron motif	0.6752
p.P850S	DO37406	SKCM	ICGC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation altering degron motif	0.6752
p.K842N	TCGA-GU-A42Q	BLCA	TCGA	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation substituting flanking lysine	0.2222
p.K842N	DO485	BLCA	ICGC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation substituting flanking lysine	0.2222
p.N775D	TCGA-UB-A7MB	LIHC	TCGA	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.1944
p.N775D	DO52318	LIHC	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.1944
p.R801K	TCGA-VS-A9UC	CESC	TCGA	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.25
p.R801K	DO219732	CESC	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.25
p.L849F	DO222427	BTCA	ICGC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.3056
p.R846C	DO8264	COAD	ICGC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.2222
p.R846C	DO234336	ESAD	ICGC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.2222
p.R846C	SIDM00540	Oral Cavity Carcinoma	GDSC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.2222
p.R846C	ACH-002234	Head and Neck Cancer	CCLE	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.2222
p.R846C	DOK	upper aerodigestive tract	COSMIC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation rewiring degron network	0.2222
p.I758M	DO222737	COCA	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.1111
p.I820F	DO228278	LICA	ICGC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.G776S	DO46751	PAEN	ICGC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.1667
p.E763Q	SIDM02042	Pancreatic Carcinoma	GDSC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation rewiring degron network	0.25
p.L795R	SIDM01245	T-Lymphoblastic Leukemia	GDSC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.L795R	SIDM00991	T-Lymphoblastic Leukemia	GDSC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.L795R	ACH-000519	Leukemia	CCLE	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.L795R	ACH-002216	Leukemia	CCLE	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.L795R	BE-13	haematopoietic and lymphoid tissue	COSMIC	VICTPVSS	DEG_SCF_FBW7_1	804:811	Mutation rewiring degron network	0.0833
p.S765N	SIDM00737	Non-Small Cell Lung Carcinoma	GDSC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.75
p.S765N	ACH-000904	Lung Cancer	CCLE	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.75
p.S765N	ACH-001362	Lung Cancer	CCLE	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.75
p.S765N	NCI-H1770	lung	COSMIC	MKENS	DEG_APCC_KENBOX_2	766:770	Mutation blocking phosphorylation signal	0.75
p.L851P	SIDM00168	Head and Neck Carcinoma	GDSC	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation altering degron motif	0.6471
p.L851P	ACH-000549	Head and Neck Cancer	CCLE	PLSTS	DEG_SPOP_SBC_1	850:854	Mutation altering degron motif	0.6471
p.E861V	SIDM01628	Non-Small Cell Lung Carcinoma	GDSC	KEELHQD	LIG_APCC_ABBAyCdc20_2	860:866	Mutation altering degron motif	0.6582

Kaplan plot for GEMIN5 in

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*NOTE: the Kaplan plots were collected from OncoLnc

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

GEMIN5

UniProt ID: Q8TEQ6

Entrez ID: 25929

Protein name: Gem-associated protein 5 (Gemin5)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for GEMIN5 in