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

Also Known as CMT2GG; ARF1GEF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8729

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 References 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 References 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 References 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_N: Guanine nucleotide exchange factor in Golgi transport N-terminal (399 - 552)

Sec7

Sec7: Sec7 domain (697 - 884)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (7)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-100540 Golgicide A Inhibitor 99.94% Unkown
HY-100540A (Rac)-Golgicide A Inhibitor / Unkown
HY-RS05305 GBF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS11380 PTGES2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19804 Ptges2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22179 Gbf1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28701 Gbf1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others GBF1 NCBI