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LRBA (NM_006726) - LPS responsive beige-like anchor protein

Lipopolysaccharide-Responsive And Beige-Like Anchor Protein Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of LRBA protein. View all 2 isoforms
LRBA: lipopolysaccharide-responsive and beige-like anchor protein isoform 2
Description:

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].

Strand
-
Chromosome
4
Protein
2863 residues
All mutations
677
PTM sites
97
CDS
151,186,873 - 151,935,794
Transcription
151,185,810 - 151,936,649
40.31% of sequence is predicted to be disordered

Usage summary

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 987
UniProt
Ensembl