Gene
arfgef1
- ID
- ZDB-GENE-030131-108
- Name
- ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
- Symbol
- arfgef1 Nomenclature History
- Previous Names
-
- hm:zeh1651
- im:7138204
- wu:fj64h08
- zeh1651
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or within protein transport and regulation of ARF protein signal transduction. Predicted to be located in Golgi apparatus and perinuclear region of cytoplasm. Is expressed in brain. Orthologous to human ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014524Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la022883Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la022884Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa778 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10355 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14568 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17540 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa30078 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37862 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 619964 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | Mon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain | Mon2/Sec7/BIG1-like, HDS | Mon2/Sec7/BIG1-like, HUS domain | Sec7/BIG1-like, C-terminal domain | Sec7, C-terminal domain superfamily | Sec7 domain | Sec7 domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AZ36
|
1870 | |||||||||
|
UniProtKB:A0A8M3AP80
|
1846 | |||||||||
|
UniProtKB:E7FGL2
|
1849 | |||||||||
|
UniProtKB:A0A8M3B6N5
|
1852 | |||||||||
|
UniProtKB:A0A8M3ANJ3
|
1864 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
arfgef1-201
(1)
|
Ensembl | 7,122 nt | ||
| mRNA |
arfgef1-202
(1)
|
Ensembl | 807 nt | ||
| mRNA |
arfgef1-203
(1)
|
Ensembl | 5,604 nt |
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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 | DKEY-4M13 | ZFIN Curated Data | |
| Encodes | EST | fj64h08 | ||
| Encodes | EST | IMAGE:7138204 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7145633 | Thisse et al., 2004 | |
| Encodes | EST | zeh1651 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009297395 (1) | 6912 nt | ||
| Genomic | GenBank:CU896568 (1) | 225574 nt | ||
| Polypeptide | UniProtKB:A0A8M3AZ36 (1) | 1870 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Lu, F.I., Wang, Y.T., Wang, Y.S., Wu, C.Y., Li, C.C. (2019) Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33(9):9959-9973
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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