GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1)

2014-11-01  

Identity

HGNC
GBF1
LOCATION
10q24.32
LOCUSID
8729
ALIAS
ARF1GEF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8729
MIM: 603698
HGNC: 4181
Ensembl: ENSG00000107862

Variants:

dbSNP: 8729
ClinVar: 8729
TCGA: ENSG00000107862
COSMIC: GBF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107862ENST00000369983Q92538

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
VxPx cargo-targeting to ciliumREACTOMER-HSA-5620916
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363057892022Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality.6
363057892022Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality.6
334059492021Modeling the dynamic behaviors of the COPI vesicle formation regulators, the small GTPase Arf1 and its activating Sec7 guanine nucleotide exchange factor GBF1 on Golgi membranes.2
348705922021Src activates retrograde membrane traffic through phosphorylation of GBF1.6
334059492021Modeling the dynamic behaviors of the COPI vesicle formation regulators, the small GTPase Arf1 and its activating Sec7 guanine nucleotide exchange factor GBF1 on Golgi membranes.2
348705922021Src activates retrograde membrane traffic through phosphorylation of GBF1.6
324842342020SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection.4
325998552020Role of the Guanine Nucleotide Exchange Factor GBF1 in the Replication of RNA Viruses.9
326528602020SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.6
328283032020Class II Arfs require a brefeldin-A-sensitive factor for Golgi association.2
329371432020De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.8
324842342020SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection.4
325998552020Role of the Guanine Nucleotide Exchange Factor GBF1 in the Replication of RNA Viruses.9
326528602020SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.6
328283032020Class II Arfs require a brefeldin-A-sensitive factor for Golgi association.2

Citation

Dessen P

GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63723/css/lib/case-report-explorer/