DegronMD - Q92538(GBF1)

FUNCTION: Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adapter protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891). Plays a role in maintaining mitochondrial morphology (PubMed:25190516). {ECO:0000250|UniProtKB:Q9R1D7, ECO:0000269|PubMed:12047556, ECO:0000269|PubMed:12808027, ECO:0000269|PubMed:15616190, ECO:0000269|PubMed:16926190, ECO:0000269|PubMed:17666033, ECO:0000269|PubMed:17956946, ECO:0000269|PubMed:18003980, ECO:0000269|PubMed:18063581, ECO:0000269|PubMed:19461073, ECO:0000269|PubMed:22185782, ECO:0000269|PubMed:22573891, ECO:0000269|PubMed:23386609, ECO:0000269|PubMed:23418352, ECO:0000269|PubMed:24213530, ECO:0000269|PubMed:25190516, ECO:0000305|PubMed:19039328, ECO:0000305|PubMed:22573891}. View more >>

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

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.T256I	TCGA-24-1845	OV	TCGA	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.3056
p.T256I	TCGA-24-1845	OV	TCGA	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.1111
p.T256I	DO29920	OV	ICGC	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.3056
p.T256I	DO29920	OV	ICGC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.1111
p.M240I	TCGA-4G-AAZO	CHOL	TCGA	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.0833
p.M240I	TCGA-4G-AAZO	CHOL	TCGA	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.25
p.R1460C	TCGA-A5-A0G2	UCEC	TCGA	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.2778
p.R1460C	DO41235	UCEC	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.2778
p.A1845S	TCGA-AA-3713	COAD	TCGA	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.6477
p.A1845S	DO8400	COAD	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.6477
p.Q1467K	TCGA-AP-A0L8	UCEC	TCGA	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.3056
p.Q1467K	DO42169	UCEC	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.3056
p.A1833V	TCGA-AX-A06L	UCEC	TCGA	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	TCGA-DF-A2KU	UCEC	TCGA	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	TCGA-EC-A24G	UCEC	TCGA	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	DO230346	COCA	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	DO40996	UCEC	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	DO223286	UCEC	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	DO43851	UCEC	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	SIDM00145	T-Lymphoblastic Leukemia	GDSC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	ACH-001127	Leukemia	CCLE	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.A1833V	MOLT-4	haematopoietic and lymphoid tissue	COSMIC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.0556
p.G1473R	TCGA-B5-A0K6	UCEC	TCGA	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.G1473R	TCGA-CV-6941	HNSC	TCGA	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.G1473R	DO15919	HNSC	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.G1473R	DO40808	UCEC	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.R1471Q	TCGA-CD-A4MG	STAD	TCGA	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1944
p.R1471Q	DO48009	STAD	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1944
p.P236S	TCGA-DF-A2KV	UCEC	TCGA	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.1389
p.P236S	DO219771	UCEC	ICGC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.1389
p.P236S	ACH-000973	Bladder Cancer	CCLE	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.1389
p.S289C	TCGA-EY-A1GS	UCEC	TCGA	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.2778
p.S289C	DO43162	UCEC	ICGC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.2778
p.Q299K	TCGA-FS-A1ZQ	SKCM	TCGA	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.2778
p.Q299K	DO37442	SKCM	ICGC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.2778
p.E1836K	TCGA-HU-8243	STAD	TCGA	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.1389
p.E1836K	DO47915	STAD	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.1389
p.E1836K	SIDM00674	Non-Cancerous	GDSC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.1389
p.E1836K	ACH-002377	Non-Cancerous	CCLE	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.1389
p.T1855I	DO227549	COCA	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation rewiring degron network	0.1944
p.R1461Q	DO234293	ESAD	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.3056
p.R1460H	DO228756	GACA	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.2778
p.S287N	DO233148	GACA	ICGC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.2222
p.R1848C	DO233766	GACA	ICGC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.719
p.R1848C	SIDM00502	B-Lymphoblastic Leukemia	GDSC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.719
p.R1848C	ACH-000157	Lymphoma	CCLE	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.719
p.R1848C	A4-Fuk	haematopoietic and lymphoid tissue	COSMIC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.719
p.M240T	DO228947	LICA	ICGC	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.0833
p.M240T	DO228947	LICA	ICGC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.25
p.R1460L	DO228974	LICA	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.2778
p.G1473V	DO228971	LICA	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.G246C	DO229027	LICA	ICGC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation altering degron motif	0.6489
p.G246V	DO229031	LICA	ICGC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation altering degron motif	0.6421
p.P237R	DO23170	LINC	ICGC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.1667
p.K1452R	DO229211	THCA	ICGC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation substituting flanking lysine	0.1667
p.C1766R	DO229234	THCA	ICGC	AASSS	DEG_SPOP_SBC_1	1776:1780	Mutation rewiring degron network	0.0556
p.R1848H	SIDM02015	Colorectal Carcinoma	GDSC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.7133
p.R1848H	SIDM00783	Colorectal Carcinoma	GDSC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.7133
p.R1848H	ACH-000971	Colon/Colorectal Cancer	CCLE	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.7133
p.R1471W	SIDM00589	Oral Cavity Carcinoma	GDSC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1944
p.R1471W	ACH-000778	Head and Neck Cancer	CCLE	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1944
p.R1471W	HSC-3	upper aerodigestive tract	COSMIC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1944
p.E1455D	SIDM00769	Non-Small Cell Lung Carcinoma	GDSC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.E1455D	ACH-000733	Lung Cancer	CCLE	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.E1455D	NCI-H1838	lung	COSMIC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.1389
p.S1779T	SIDM01122	Non-Small Cell Lung Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	1776:1780	Mutation altering degron motif	0.7116
p.S1779T	NCI-H661	lung	COSMIC	AASSS	DEG_SPOP_SBC_1	1776:1780	Mutation altering degron motif	0.7116
p.P1849T	SIDM00703	Non-Small Cell Lung Carcinoma	GDSC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.5919
p.P1849T	ACH-000929	Lung Cancer	CCLE	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.5919
p.P1849T	NCI-H2110	lung	COSMIC	LLATPRPT	DEG_SCF_FBW7_1	1843:1850	Mutation altering degron motif	0.5919
p.L1459F	SIDM00651	Non-Small Cell Lung Carcinoma	GDSC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.25
p.L1459F	ACH-000980	Lung Cancer	CCLE	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.25
p.L1459F	NCI-H1155	lung	COSMIC	PRTSS	DEG_SPOP_SBC_1	1462:1466	Mutation rewiring degron network	0.25
p.S258L	SIDM01124	Non-Small Cell Lung Carcinoma	GDSC	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.25
p.S258L	SIDM01124	Non-Small Cell Lung Carcinoma	GDSC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.0556
p.S258L	ACH-000945	Lung Cancer	CCLE	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.25
p.S258L	ACH-000945	Lung Cancer	CCLE	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.0556
p.S258L	NCI-H650	lung	COSMIC	LPTPNGT	DEG_SCF_FBW7_1	249:255	Mutation rewiring degron network	0.25
p.S258L	NCI-H650	lung	COSMIC	VTPGSE	DEG_SCF_FBW7_2	243:248	Mutation rewiring degron network	0.0556
p.E1769K	SIDM00726	Non-Small Cell Lung Carcinoma	GDSC	AASSS	DEG_SPOP_SBC_1	1776:1780	Mutation rewiring degron network	0.1389
p.E1769K	ACH-000875	Lung Cancer	CCLE	AASSS	DEG_SPOP_SBC_1	1776:1780	Mutation rewiring degron network	0.1389
p.E1769K	NCI-H2347	lung	COSMIC	AASSS	DEG_SPOP_SBC_1	1776:1780	Mutation rewiring degron network	0.1389
p.V286F	SIDM00850	Gastric Carcinoma	GDSC	VPTPISS	DEG_SCF_FBW7_1	270:276	Mutation rewiring degron network	0.0556
p.V286F	SIDM00850	Gastric Carcinoma	GDSC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.1944
p.V286F	ACH-000880	Gastric Cancer	CCLE	VPTPISS	DEG_SCF_FBW7_1	270:276	Mutation rewiring degron network	0.0556
p.V286F	ACH-000880	Gastric Cancer	CCLE	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.1944
p.V286F	AGS	stomach	COSMIC	VPTPISS	DEG_SCF_FBW7_1	270:276	Mutation rewiring degron network	0.0556
p.V286F	AGS	stomach	COSMIC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation rewiring degron network	0.1944
p.S292G	SIDM00451	T-Lymphoblastic Leukemia	GDSC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation altering degron motif	0.8104
p.S292G	PF-382	haematopoietic and lymphoid tissue	COSMIC	DSGLEFS	DEG_SCF_TRCP1_1	291:297	Mutation altering degron motif	0.8104

Kaplan plot for GBF1 in

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*NOTE: the Kaplan plots were collected from OncoLnc

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

GBF1

UniProt ID: Q92538

Entrez ID: 8729

Protein name: Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 (BFA-resistant GEF 1)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for GBF1 in