Gene

gbf1

ID
ZDB-GENE-081107-54
Name
golgi brefeldin A resistant guanine nucleotide exchange factor 1
Symbol
gbf1 Nomenclature History
Previous Names
  • sb:eu951
  • si:dkey-183c23.1
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in endomembrane system organization and endosomal transport. Predicted to act upstream of or within regulation of ARF protein signal transduction. Predicted to be located in several cellular components, including Golgi apparatus subcompartment; endoplasmic reticulum-Golgi intermediate compartment; and lipid droplet. Is expressed in head. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate A. Orthologous to human GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from Chen et al., 2017
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa9693Allele with one point mutationUnknownPremature StopENU
sa12707Allele with one point mutationUnknownPremature StopENU
sa14258Allele with one point mutationUnknownSplice SiteENU
sa18494Allele with one point mutationUnknownPremature StopENU
tsu3994Allele with one point mutationExon 23NonsynonymousENU
tsucd7Allele with one deletionUnknownUnknownCRISPR
tsuci20Allele with one delinsUnknownUnknownCRISPR
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-gbf1Chen et al., 2017
MO1-gbf1N/AChen et al., 2017
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Human Disease
Associated With gbf1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease dominant intermediate A Alliance Charcot-Marie-Tooth disease, axonal, type 2GG 606483
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Associated With gbf1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000904 Sec7 domain
Domain IPR032691 Mon2/Sec7/BIG1-like, HUS domain
Homologous_superfamily IPR016024 Armadillo-type fold
Homologous_superfamily IPR023394 Sec7, C-terminal domain superfamily
Homologous_superfamily IPR035999 Sec7 domain superfamily
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Domain Details Per Protein
Protein Additional Resources Length Armadillo-type fold Mon2/Sec7/BIG1-like, HUS domain Sec7, C-terminal domain superfamily Sec7 domain Sec7 domain superfamily
UniProtKB:A0A8M3BEH1 InterPro 1846
UniProtKB:A0A286Y9X1 InterPro 1862
UniProtKB:A0A8M3AYV9 InterPro 1850
UniProtKB:A0A8M3B513 InterPro 1858
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 13
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gbf1-201 (1) Ensembl 5,208 nt
mRNA gbf1-202 (1) Ensembl 9,522 nt
mRNA gbf1-203 (1) Ensembl 5,589 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-343M8ZFIN Curated Data
Contained inBACDKEY-98E8ZFIN Curated Data
Contained inBACDKEY-183C23ZFIN Curated Data
Contained inBACDKEY-196H17ZFIN Curated Data
EncodesESTeu951Thisse et al., 2005
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanGBF110
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MouseGbf119
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations