LRBA

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; OMA:LRBA - orthologs
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. ^ a b c GRCh38: Ensembl release 89: ENSG00000198589 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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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