Gene
iqsec1b
- ID
- ZDB-GENE-120813-1
- Name
- IQ motif and Sec7 domain ArfGEF 1b
- Symbol
- iqsec1b Nomenclature History
- Previous Names
-
- si:dkey-57n24.7
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have ARF guanyl-nucleotide exchange factor activity. Involved in angiogenesis and lymphangiogenesis. Human ortholog(s) of this gene implicated in intellectual developmental disorder with short stature and behavioral abnormalities. Is expressed in liver. Orthologous to human IQSEC1 (IQ motif and Sec7 domain ArfGEF 1).
- Genome Resources
- 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR000048 | IQ motif, EF-hand binding site |
| 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 |
Domain Details Per Protein
| Protein | Length | IQ motif and SEC7 domain-containing protein, PH domain | IQ motif, EF-hand binding site | PH-like domain superfamily | Sec7, C-terminal domain superfamily | Sec7 domain | Sec7 domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PVJ2
|
1015 | ||||||
|
UniProtKB:X1WBR0
|
1134 | ||||||
|
UniProtKB:A0A8M3BDQ3
|
1216 | ||||||
|
UniProtKB:A0A8M2BGL9
|
1128 | ||||||
|
UniProtKB:A0A8M3B6X9
|
1055 | ||||||
|
UniProtKB:A0A8M2BGL8
|
1121 | ||||||
|
UniProtKB:A0A8M3AXM6
|
1116 | ||||||
|
UniProtKB:E7EZE5
|
1252 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
iqsec1b-201
(1)
|
Havana | 7336 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance