LRBA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDsOMIM: 606453 MGI: 1933162 HomoloGene: 36205 GeneCards: LRBA
Orthologs
SpeciesHumanMouse
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 MbChr 3: 86.13 – 86.69 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]

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

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:". 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. 1 2 "Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing".

Further reading

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


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