LRBA

LRBA
Identifiers
Aliases	LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDs	OMIM: 606453; MGI: 1933162; HomoloGene: 36205; GeneCards: LRBA; OMA:LRBA - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T77
Gene location (Human) Chr. Chromosome 4 (human) Band 4q31.3 Start 150,264,435 bp End 151,015,727 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F1 Start 86,131,987 bp End 86,689,999 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh bronchial epithelial cell epithelium of colon gingival epithelium epithelium of nasopharynx corpus epididymis right uterine tube Epithelium of choroid plexus retinal pigment epithelium skin of hip Top expressed in ciliary body ankle retinal pigment epithelium utricle vestibular sensory epithelium olfactory epithelium iris vestibular membrane of cochlear duct temporal muscle urothelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function molecular function Cellular component integral component of membrane plasma membrane Golgi apparatus lysosome endoplasmic reticulum membrane Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 987 80877 Ensembl ENSG00000198589 ENSMUSG00000028080 UniProt P50851 Q9ESE1 RefSeq (mRNA) NM_001199282 NM_006726 NM_001364905 NM_001367550 NM_001077687 NM_001077688 NM_030695 RefSeq (protein) NP_001186211 NP_006717 NP_001351834 NP_001354479 NP_001071155 NP_001071156 NP_109620 Location (UCSC) Chr 4: 150.26 – 151.02 Mb Chr 3: 86.13 – 86.69 Mb PubMed search
Wikidata
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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]

Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein deficiency.

Further reading

• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
• Gebauer D, Li J, Jogl G, et al. (2005). "Crystal structure of the PH-BEACH domains of human LRBA/BGL". Biochemistry. 43 (47): 14873–80. doi:10.1021/bi049498y. PMID 15554694.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Dyomin VG, Chaganti SR, Dyomina K, et al. (2003). "BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function". Genomics. 80 (2): 158–65. doi:10.1006/geno.2002.6822. PMID 12160729.

External links

• Overview of all the structural information available in the PDB for UniProt: P50851 (Lipopolysaccharide-responsive and beige-like anchor protein) at the PDBe-KB.