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
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu951 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Chen et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa9693 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa12707 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14258 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa18494 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tsu3994 | Allele with one point mutation | Exon 23 | Nonsynonymous | ENU | |
tsucd7 | Allele with one deletion | Unknown | Unknown | CRISPR | |
tsuci20 | Allele with one delins | Unknown | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-gbf1 | Chen et al., 2017 | |
MO1-gbf1 | N/A | Chen et al., 2017 |
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Human Disease
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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Domain, Family, and Site Summary
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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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH73-343M8 | ZFIN Curated Data | |
Contained in | BAC | DKEY-98E8 | ZFIN Curated Data | |
Contained in | BAC | DKEY-183C23 | ZFIN Curated Data | |
Contained in | BAC | DKEY-196H17 | ZFIN Curated Data | |
Encodes | EST | eu951 | Thisse et al., 2005 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_009307103 (1) | |||
Genomic | GenBank:CR626878 (1) | 201749 nt | ||
Polypeptide | UniProtKB:A0A286Y9X1 (1) | 1862 aa |
- Tang, S.L., Liang, X.F., He, S., Li, L., Alam, M.S., Wu, J. (2022) Comparative Study of the Molecular Characterization, Evolution, and Structure Modeling of Digestive Lipase Genes Reveals the Different Evolutionary Selection Between Mammals and Fishes. Frontiers in genetics. 13:909091
- Pocognoni, C.A., Viktorova, E.G., Wright, J., Meissner, J.M., Sager, G., Lee, E., Belov, G.A., Sztul, E. (2018) Highly conserved motifs within the large Sec7 ARF guanine nucleotide exchange factor GBF1 target it to the Golgi and are critical for GBF1 activity. American journal of physiology. Cell physiology. 314(6):C675-C689
- Chen, J., Wu, X., Yao, L., Yan, L., Zhang, L., Qiu, J., Liu, X., Jia, S., Meng, A. (2017) Impairment of Cargo Transportation Caused by gbf1 Mutation Disrupts Vascular Integrity and Causes Hemorrhage in Zebrafish Embryos.. The Journal of biological chemistry. 292(6):2315-2327
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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