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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GBF1
golgi brefeldin A resistant guanine nucleotide exchange factor 1
Chromosome 10 Β· 10q24.32
NCBI Gene: 8729Ensembl: ENSG00000107862.7HGNC: HGNC:4181UniProt: A0A669KB10
180PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ 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
✦AI Summary

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.

Sources cited
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: 28985001
2
GBF1 also recruits adaptor proteins to the trans-Golgi network and participates in clathrin-dependent transport .
PMID: 23386609
3
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: 30459446
4
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: 25190516
5
GBF1 dysfunction causes congenital cataracts through a mechanism involving unfolded protein response activation and enhanced autophagy in lens epithelium cells .
PMID: 39110251
6
Mutations in GBF1 are associated with Charcot-Marie-Tooth disease type 2GG and may contribute to Parkinson's disease susceptibility .
PMID: 32652860
7
GBF1 function is regulated by phosphorylation, allowing dynamic responses to cellular needs .
PMID: 32333796
Disease Associationsβ“˜21
Autosomal dominant intermediate Charcot-Marie-Tooth disease type AOpen Targets
0.71Strong
Charcot-Marie-Tooth Disease, axonal, type 2GGOpen Targets
0.71Strong
neurodegenerative diseaseOpen Targets
0.52Moderate
dengue diseaseOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
multiple sclerosisOpen Targets
0.45Moderate
Motor axonal neuropathyOpen Targets
0.37Weak
atrial fibrillationOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
joint diseaseOpen Targets
0.17Weak
intelligenceOpen Targets
0.17Weak
cannabis dependenceOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.12Weak
Charcot-Marie-Tooth disease, dominant intermediate AOpen Targets
0.12Weak
obesityOpen Targets
0.11Weak
mathematical abilityOpen Targets
0.09Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Charcot-Marie-Tooth disease, axonal, type 2GGUniProt
Pathogenic Variants5
NM_001377137.1(GBF1):c.4384C>T (p.Arg1462Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1462
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
β˜†β˜†β˜†β˜†2021β†’ Residue 1462
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
β˜†β˜†β˜†β˜†2021β†’ Residue 983
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
β˜†β˜†β˜†β˜†2021β†’ Residue 1176
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)Pathogenic
Motor axonal neuropathy|Charcot-Marie-Tooth Disease, axonal, type 2GG
β˜†β˜†β˜†β˜†2021β†’ Residue 1138
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92538
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.44–0.64]
RankingsWhere GBF1 stands among ~20K protein-coding genes
  • #2,414of 20,598
    Most Researched180 Β· top quartile
  • #3,491of 5,498
    Most Pathogenic Variants5
  • #4,598of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedGBF1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
GBF1 deficiency causes cataracts in human and mouse.
PMID: 39110251
Hum Genet Β· 2024
1.00
2
GBF1 and Arf1 function in vesicular trafficking, lipid homoeostasis and organelle dynamics.
PMID: 28985001
Biol Cell Β· 2017
0.90
3
Role of the Guanine Nucleotide Exchange Factor GBF1 in the Replication of RNA Viruses.
PMID: 32599855
Viruses Β· 2020
0.80
4
LG186: An inhibitor of GBF1 function that causes Golgi disassembly in human and canine cells.
PMID: 20854417
Traffic Β· 2010
0.72
5
Enterovirus 3A protein disrupts endoplasmic reticulum homeostasis through interaction with GBF1.
PMID: 38904364
J Virol Β· 2024
0.70