25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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180PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLETransporter
CLINICALOMIM Disease Gene
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
Golgi apparatusendoplasmic reticulum-Golgi intermediate compartmentphosphatidylinositol-3,4,5-trisphosphate bindingphosphatidylinositol-3,5-bisphosphate bindingCharcot-Marie-Tooth Disease, axonal, type 2GGAutosomal dominant intermediate Charcot-Marie-Tooth disease type Aneurodegenerative diseasedengue disease
GBF1 is a guanine nucleotide exchange factor (GEF) that activates ADP-ribosylation factor (Arf) family proteins to coordinate membrane trafficking throughout the cell 1. Its primary function involves initiating COPI coat assembly at the endoplasmic reticulum, ERGIC, and cis-Golgi by generating activated ARF1-GTP, thereby regulating retrograde transport and Golgi organization 23. GBF1 also recruits adaptor proteins to the trans-Golgi network and participates in clathrin-dependent transport 4. Beyond classical vesicular trafficking, GBF1 regulates mitochondrial positioning through interactions with the mitochondrial protein Miro and dynein-dependent retrograde transport along microtubules 5, and maintains mitochondrial morphology 6.
GBF1 dysfunction causes congenital cataracts through a mechanism involving unfolded protein response activation and enhanced autophagy in lens epithelium cells 7. Mutations in GBF1 are associated with Charcot-Marie-Tooth disease type 2GG and may contribute to Parkinson's disease susceptibility 8. Additionally, GBF1 is hijacked by RNA viruses including enterovirus and hepatitis C virus to facilitate their replication; enteroviral 3A proteins disrupt ER homeostasis by sequestering GBF1 and inhibiting ARF1 activation, inducing pathogenic unfolded protein responses 910. GBF1 function is regulated by phosphorylation, allowing dynamic responses to cellular needs 11.
1
GBF1 is a guanine nucleotide exchange factor (GEF) that activates ADP-ribosylation factor (Arf) family proteins to coordinate membrane trafficking throughout the cell .
PMID: 289850012
GBF1 also recruits adaptor proteins to the trans-Golgi network and participates in clathrin-dependent transport .
PMID: 233866093
Beyond classical vesicular trafficking, GBF1 regulates mitochondrial positioning through interactions with the mitochondrial protein Miro and dynein-dependent retrograde transport along microtubules , and maintains mitochondrial morphology .
PMID: 304594464
Beyond classical vesicular trafficking, GBF1 regulates mitochondrial positioning through interactions with the mitochondrial protein Miro and dynein-dependent retrograde transport along microtubules , and maintains mitochondrial morphology .
PMID: 251905165
GBF1 dysfunction causes congenital cataracts through a mechanism involving unfolded protein response activation and enhanced autophagy in lens epithelium cells .
PMID: 391102516
Mutations in GBF1 are associated with Charcot-Marie-Tooth disease type 2GG and may contribute to Parkinson's disease susceptibility .
PMID: 326528607
GBF1 function is regulated by phosphorylation, allowing dynamic responses to cellular needs .
PMID: 32333796Autosomal dominant intermediate Charcot-Marie-Tooth disease type AOpen Targets
Charcot-Marie-Tooth Disease, axonal, type 2GGOpen Targets
neurodegenerative diseaseOpen Targets
dengue diseaseOpen Targets
Parkinson diseaseOpen Targets
Alzheimer diseaseOpen Targets
lysosomal storage diseaseOpen Targets
multiple sclerosisOpen Targets
Motor axonal neuropathyOpen Targets
atrial fibrillationOpen Targets
Abnormality of the skeletal systemOpen Targets
joint diseaseOpen Targets
cannabis dependenceOpen Targets
attention deficit hyperactivity disorderOpen Targets
autism spectrum disorderOpen Targets
Charcot-Marie-Tooth disease, dominant intermediate AOpen Targets
mathematical abilityOpen Targets
early-onset non-syndromic cataractOpen Targets
Charcot-Marie-Tooth disease, axonal, type 2GGUniProt
NM_001377137.1(GBF1):c.4384C>T (p.Arg1462Trp)Likely pathogenic
not provided
β
βββ2022β Residue 1462
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
ββββ2021β Residue 1462
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
ββββ2021β Residue 983
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
ββββ2021β Residue 1176
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
ββββ2021β Residue 1138
No tissue expression data available for this gene.