LRBA

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

LRBA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T77
Identifiers
Aliases	LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDs	OMIM: 606453; MGI: 1933162; HomoloGene: 36205; GeneCards: LRBA; OMA:LRBA - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q31.3 Start 150,264,435 bp[1] End 151,015,727 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F1 Start 86,131,987 bp[2] End 86,689,999 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh bronchial epithelial cell epithelium of colon gingival epithelium epithelium of nasopharynx corpus epididymis right uterine tube Epithelium of choroid plexus retinal pigment epithelium skin of hip Top expressed in ciliary body ankle retinal pigment epithelium utricle vestibular sensory epithelium olfactory epithelium iris vestibular membrane of cochlear duct temporal muscle urothelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function molecular function Cellular component integral component of membrane plasma membrane Golgi apparatus lysosome endoplasmic reticulum membrane Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 3: 86.13 – 86.69 Mb PubMed search [3] [4]
Wikidata
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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.