GBF1 - golgi brefeldin A resistant guanine nucleotide exchange factor 1 Gene

Homo sapiens

Also known as CMT2GG; ARF1GEF

Gene ID: 8729 | Gene type: protein coding

About GBF1

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,230,643-102,382,896 (from NCBI)

This gene has 118 transcripts (splice variants), 234 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 18.0), brain (RPKM 12.4) and 25 other tissues.

Summary

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

GBF1 Products(20)

mRNA	Protein	Name
NM_001199378.2	NP_001186307.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2
NM_001199379.2	NP_001186308.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 3
NM_001377137.1	NP_001364066.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 4
NM_001377138.1	NP_001364067.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 5
NM_001377139.1	NP_001364068.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 6
NM_001377140.1	NP_001364069.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 7
NM_001377141.1	NP_001364070.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 1
NM_001391922.1	NP_001378851.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 8
NM_001391923.1	NP_001378852.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2
NM_001391924.1	NP_001378853.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 3
NM_001391925.1	NP_001378854.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 9
NM_001391926.1	NP_001378855.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 10
NM_001391927.1	NP_001378856.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 11
NM_001391928.1	NP_001378857.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 12
NM_001391929.1	NP_001378858.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 13
NM_001391930.1	NP_001378859.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 14
NM_001391931.1	NP_001378860.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 15
NM_001411003.1	NP_001397932.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 16
NM_001411027.1	NP_001397956.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 17
NM_004193.3	NP_004184.1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: Inferred from direct assay	22573891	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: Inferred from direct assay	22573891	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17956946	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in COPI coating of Golgi vesicle	IMP IMP: Inferred from mutant phenotype	12047556	GOA
involved in Golgi disassembly	IMP IMP: Inferred from mutant phenotype	23418352	GOA
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	12808027	GOA
involved in Golgi to endosome transport	IMP IMP: Inferred from mutant phenotype	23386609	GOA
involved in cell activation involved in immune response	IMP IMP: Inferred from mutant phenotype	22573891	GOA
involved in cellular response to virus	IMP IMP: Inferred from mutant phenotype	28389568	GOA
involved in endoplasmic reticulum-Golgi intermediate compartment organization	IMP IMP: Inferred from mutant phenotype	17956946	GOA
involved in establishment of monopolar cell polarity	IMP IMP: Inferred from mutant phenotype	22573891	GOA
involved in neutrophil chemotaxis	IMP IMP: Inferred from mutant phenotype	22573891	GOA
involved in protein localization to Golgi apparatus	IMP IMP: Inferred from mutant phenotype	17956946	GOA
involved in protein localization to endoplasmic reticulum exit site	IMP IMP: Inferred from mutant phenotype	17956946	GOA
involved in protein localization to endoplasmic reticulum tubular network	IMP IMP: Inferred from mutant phenotype	17956946	GOA
involved in reactive oxygen species biosynthetic process	IMP IMP: Inferred from mutant phenotype	22573891	GOA
involved in regulation of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	23418352	GOA
involved in regulation of protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	17956946	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	12808027	GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	12047556	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell leading edge	IDA IDA: Inferred from direct assay	22573891	GOA
located in cis-Golgi network	IDA IDA: Inferred from direct assay	12047556	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	12047556	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	23386609	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GBF1 Protein Structure

Sec7_N

Sec7

0
300
600
900
1200
1500
1859 a.a.

Protein Preferred Names

Protein Names

Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1

BFA-resistant GEF 1

GBF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	GBF1	Q92538	P03300-PRO_0000424692	Poliovirus type 1	P03300-PRO_0000424692	Pull Down	23572552

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, Axonal, Type 2gg

CMT2GG	Charcot-Marie-Tooth Neuropathy, Type 2gg
Charcot-Marie-Tooth Disease, Dominant Intermediate A, Formerly	Cmtdia, Formerly
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A, Formerly	Di-Cmta, Formerly

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4	Ctpp4
Cpp4	Cataract 11 Multiple Types
CTRCT11	Cataract 11, Syndromic, Autosomal Recessive
Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities	Posterior Polar Cataract 4
Posterior Polar Cataract, 4	Cataract Posterior Polar 4
Syndromic Cataract 11	Cataract, Type 11, Multiple Types

Anterior Segment Dysgenesis 1

Anterior Segment Mesenchymal Dysgenesis	Anterior Segment Dysgenesis 1, Multiple Subtypes
ASGD1	Asmd
Anterior Segment Ocular Dysgenesis	Asod
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Ocular Anterior Segment Dysgenesis
Dysgenesis, Anterior Segment, Type 1	Axenfeld-Rieger Syndrome, Type 3
Irido-Corneal Dysgenesis

Bardet-Biedl Syndrome 5

BBS5	Bardet-Biedl Syndrome, Type 5

Retinitis Pigmentosa 39

RP39	Retinitis Pigmentosa, Type 39

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100540	Golgicide A	Inhibitor	99.85%	Unkown
HY-100540A	(Rac)-Golgicide A	Inhibitor	/	Unkown
HY-RS05305	GBF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GBF1	VGNC	VGNC:72895
Felis catus	GBF1	VGNC	VGNC:62483
Canis familiaris	GBF1	VGNC	VGNC:41133
Rattus norvegicus	GBF1	RGD	RGD:1307160
Bos taurus	GBF1	VGNC	VGNC:55953
Mus musculus	GBF1	MGD	MGI:1861607

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