LRBA

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LPS-responsive vesicle trafficking, beach and anchor containing
PDB rendering based on 1t77.
Available structures: 1t77
Identifiers
Symbol(s) LRBA; BGL; CDC4L; DKFZp686A09128; DKFZp686K03100; DKFZp686P2258; FLJ16600; FLJ25686; LAB300; LBA; MGC72098
External IDs OMIM: 606453 MGI: 1933162 HomoloGene: 36205
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 987 80877
Ensembl ENSG00000198589 ENSMUSG00000028080
Uniprot P50851 n/a
Refseq NM_006726 (mRNA)
NP_006717 (protein)		 NM_001077687 (mRNA)
NP_001071155 (protein)
Location Chr 4: 151.41 - 152.16 Mb Chr 3: 86.31 - 86.87 Mb
Pubmed search [1] [2]

LPS-responsive vesicle trafficking, beach and anchor containing, also known as LRBA, is a human gene.[1]

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][1]

[edit] References

  1. ^ a b Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing.

[edit] 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: 89. doi:10.1038/msb4100134. 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. 
  • 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. 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. PMID 12160729. 
  • Wang JW, Howson J, Haller E, Kerr WG (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. PMID 11254716. 
  • Feuchter AE, Freeman JD, Mager DL (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. PMID 1505956. 
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