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
- Human ortholog(s) of this gene implicated in common variable immunodeficiency. Is expressed in hindbrain and intestinal bulb. 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