LRBA

LRBA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDsMGI: 1933162 HomoloGene: 36205 GeneCards: LRBA
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q31.3Start150,264,531 bp[1]
End151,015,727 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

987

80877

Ensembl

ENSG00000198589

ENSMUSG00000028080

UniProt

P50851

Q9ESE1

RefSeq (mRNA)

NM_001199282
NM_006726
NM_001364905

NM_001077687
NM_001077688
NM_030695

RefSeq (protein)

NP_001186211
NP_006717
NP_001351834

NP_001071155
NP_001071156
NP_109620

Location (UCSC)Chr 4: 150.26 – 151.02 MbChr 3: 86.22 – 86.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198589 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028080 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 "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.
  • 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.


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