LRBA

Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the LRBA gene.[5][6][7]

LRBA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T77
Identifiers
Aliases	LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDs	OMIM: 606453 MGI: 1933162 HomoloGene: 36205 GeneCards: LRBA
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q31.3 Start 150,264,435 bp[1] End 151,015,727 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F1 Start 86,224,680 bp[2] End 86,782,692 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • molecular function Cellular component • integral component of membrane • cell 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: 86.22 – 86.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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][7]

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

References

1. GRCh38: Ensembl release 89: ENSG00000198589 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028080 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Feuchter AE, Freeman JD, Mager DL (Sep 1992). "Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4". Genomics. 13 (4): 1237–46. doi:10.1016/0888-7543(92)90041-P. PMID 1505956.
6. Wang JW, Howson J, Haller E, Kerr WG (Mar 2001). "Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins". J Immunol. 166 (7): 4586–95. doi:10.4049/jimmunol.166.7.4586. PMID 11254716.
7. "Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing".

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. 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.