Gene
iqsec1a
- ID
- ZDB-GENE-120813-2
- Name
- IQ motif and Sec7 domain ArfGEF 1a
- Symbol
- iqsec1a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within angiogenesis and lymphangiogenesis. Predicted to be located in cytoplasm. Is expressed in liver. Human ortholog(s) of this gene implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Orthologous to human IQSEC1 (IQ motif and Sec7 domain ArfGEF 1).
- Genome Resources
-
- Alliance (1)
- Gene:100334106 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ningappa et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Manavski et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| intellectual developmental disorder with short stature and behavioral abnormalities | Alliance | Intellectual developmental disorder with short stature and behavioral abnormalities | 618687 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000904 | Sec7 domain |
| Domain | IPR033742 | IQ motif and SEC7 domain-containing protein, PH domain |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR023394 | Sec7, C-terminal domain superfamily |
| Homologous_superfamily | IPR035999 | Sec7 domain superfamily |
1 - 5 of 5
Domain Details Per Protein
| Protein | Additional Resources | Length | IQ motif and SEC7 domain-containing protein, PH domain | PH-like domain superfamily | Sec7, C-terminal domain superfamily | Sec7 domain | Sec7 domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB13A425 | InterPro | 172 | |||||
| UniProtKB:A0AB13A847 | InterPro | 143 | |||||
| UniProtKB:A0AB13A8W6 | InterPro | 1000 | |||||
| UniProtKB:A0AB13AAC2 | InterPro | 99 | |||||
| UniProtKB:A0AB13AAU9 | InterPro | 927 |
1 - 5 of 6 Show all
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance
- 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
- Ningappa, M., So, J., Glessner, J., Ashokkumar, C., Ranganathan, S., Min, J., Higgs, B.W., Sun, Q., Haberman, K., Schmitt, L., Vilarinho, S., Mistry, P.K., Vockley, G., Dhawan, A., Gittes, G.K., Hakonarson, H., Jaffe, R., Subramaniam, S., Shin, D., Sindhi, R. (2015) The Role of ARF6 in Biliary Atresia. PLoS One. 10:e0138381
- Garbarino, G., Costa, S., Pestarino, M., Candiani, S. (2014) Differential expression of synapsin genes during early zebrafish development. Neuroscience. 280:351-67
- Manavski, Y., Carmona, G., Bennewitz, K., Tang, Z., Zhang, F., Sakurai, A., Zeiher, A.M., Gutkind, J.S., Li, X., Kroll, J., Dimmeler, S., and Chavakis, E. (2014) Brag2 differentially regulates beta1- and beta3-integrin-dependent adhesion in endothelial cells and is involved in developmental and pathological angiogenesis. Basic Research in Cardiology. 109(2):404
1 - 4 of 4
Show