Gene
lrba
- ID
- ZDB-GENE-090311-19
- Name
- LPS-responsive vesicle trafficking, beach and anchor containing
- Symbol
- lrba Nomenclature History
- Previous Names
-
- im:7138144
- si:dkey-257n17.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane. Is expressed in hindbrain and intestinal bulb. Human ortholog(s) of this gene implicated in common variable immunodeficiency 8. Orthologous to human LRBA (LPS responsive beige-like anchor protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7138144 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Sribudiani et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| common variable immunodeficiency 8 | Alliance | Immunodeficiency, common variable, 8, with autoimmunity | 614700 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000409 | BEACH domain |
| Domain | IPR010508 | Neurobeachin-like, DUF1088 |
| Domain | IPR023362 | PH-BEACH domain |
| Domain | IPR031570 | Neurobeachin/BDCP, DUF4704 |
| Domain | IPR046851 | Neurobeachin, beta-propeller domain |
| Domain | IPR046852 | Neurobeachin, alpha-solenoid region |
| Family | IPR050865 | BEACH Domain-Containing |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
| Homologous_superfamily | IPR036372 | BEACH domain superfamily |
| Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | BEACH domain | BEACH Domain-Containing | BEACH domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | Neurobeachin, alpha-solenoid region | Neurobeachin/BDCP, DUF4704 | Neurobeachin, beta-propeller domain | Neurobeachin-like, DUF1088 | PH-BEACH domain | PH-like domain superfamily | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1RJV8
|
2861 | |||||||||||||||
|
UniProtKB:A0A8M9Q3Z4
|
2860 | |||||||||||||||
|
UniProtKB:A0A8M3AGV1
|
2866 | |||||||||||||||
|
UniProtKB:A0A8M3AI36
|
2866 | |||||||||||||||
|
UniProtKB:A0A8M3APD0
|
2871 | |||||||||||||||
|
UniProtKB:A0A8M6Z0J6
|
2870 | |||||||||||||||
|
UniProtKB:A0A8M9Q3Y6
|
2870 |
Interactions and Pathways
No data available
Plasmids
No data available