LRBA

LRBA
Identifiers
Aliases	LRBA, BGL, CDC4L, CVID8, LAB300, LBA, LPS responsive beige-like anchor protein
External IDs	OMIM: 606453; MGI: 1933162; GeneCards: LRBA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1T77
Gene location (Human)
Chr.	Chromosome 4 (human)
End	151,015,727 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	86,689,999 bp
RNA expression pattern
	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
	; ;
	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
Databases	NCBI: entry; OMA: entry
	987
	80877
	ENSG00000198589
	ENSMUSG00000028080
	P50851
	Q9ESE1
	NM_001199282; NM_006726; NM_001364905; NM_001367550
	NM_001077687; NM_001077688; NM_030695
	NP_001186211; NP_006717; NP_001351834; NP_001354479
	NP_001071155; NP_001071156; NP_109620
	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.

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]

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198589 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028080 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing".

External links

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

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198589 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid1505956-5] 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.

[pmid11254716-6] 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.

[entrez-7] 1 2 "Entrez Gene: LRBA LPS-responsive vesicle trafficking, beach and anchor containing".

LRBA

References

Further reading

External links