LRBA

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]

Description

LPS responsive beige-like anchor protein

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

4 (150264435 - 151015727)

Ensembl ID

ENSG00000198589  (ver. 103.38)

Orthologs

Mouse Lrba: ENSMUSG00000028080

UniProt

P50851

neXtProt

NX_P50851

Human splice variants
Mouse splice variants

Protein structure