LRBA
Sign in to saveAlso known as BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.
Gene data
LRBA- Name
- LPS responsive beige-like anchor protein
- Type
- protein-coding
- Position
- 150,264,435–151,015,755 (−)
- Aliases
- BGL, CDC4L, CVID8, LAB300, LBA, uc.147
- Ensembl
- ENSG00000198589
- RefSeq RNA
- NM_001199282.3, NM_001364905.1, NM_001367550.1, NM_001440430.1, NM_001440431.1
- RefSeq protein
- NP_001186211.2, NP_001351834.1, NP_001354479.1, NP_001427359.1, NP_001427360.1
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Wikidata facts
- Image
- Protein LRBA PDB 1t77.png
Show 5 more facts
- HomoloGene ID
- 36205
- genomic end
- 151936879
- exact match
- identifiers.org/ncbigene/987
- genomic start
- 150264435
- cytogenetic location
- 4q31.3
Sources (4)
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- External links
Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.
Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM]