LRBA Gene Summary [Human]
The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | LRBA |
| Official Name | LPS responsive beige-like anchor protein [Source:HGNC Symbol;Acc:HGNC:1742] |
| Ensembl ID | ENSG00000198589 |
| Bio databases IDs | |
| Aliases | LPS responsive beige-like anchor protein |
| Synonyms | BGL, CDC4L, CVID8, D3Ertd775e, LAB300, LBA, Lba α, LPS-responsive beige-like anchor, LPS responsive beige-like anchor protein, uc.147 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LRBA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Concanavalin A-like lectin/glucanases superfamily
- protein kinase A binding
- WD40 repeats
- Neurobeachin-like, DUF1088
- Neurobeachin/BDCP, DUF4704 alpha solenoid region
- Neurobeachin beta propeller domain
- WD domain, G-beta repeat
- protein binding
- Pleckstrin homology-like domain
- Beach
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- prostate cancer
- common variable immunodeficiency with autoimmunity type 8
- syndromic microphthalmia type 14
- drug-induced liver disease
- hearing loss
- Alzheimer disease
- cholelithiasis
- cholecystitis
- silicosis
role in cell
- production in
- expression in
- phosphorylation in
- morphology
- transport
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- trans Golgi network
- recycling endosomes
- cytoplasmic vesicles
- sorting endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRBA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization to pre-autophagosomal structure
- protein localization
- macromitophagy
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- cytosol
- Golgi apparatus
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding