LRBA

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LRBA
Protein LRBA PDB 1t77.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDs MGI: 1933162 HomoloGene: 36205 GeneCards: LRBA
Gene location (Human)
Chromosome 4 (human)
Chr. Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for LRBA
Genomic location for LRBA
Band 4q31.3 Start 150,264,531 bp[1]
End 151,015,727 bp[1]
RNA expression pattern
PBB GE LRBA 214109 at fs.png

PBB GE LRBA 212692 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001199282
NM_006726

NM_001077687
NM_001077688
NM_030695

RefSeq (protein)

NP_001186211
NP_006717

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

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[edit]

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

Further reading[edit]