Homo sapiens Gene: LRBA
Summary
InnateDB Gene IDBG-40834.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LRBA
Gene Name LPS-responsive vesicle trafficking, beach and anchor containing
Synonyms BGL; CDC4L; CVID8; LAB300; LBA
Species Homo sapiens
Ensembl Gene ENSG00000198589
Encoded Proteins
LPS-responsive vesicle trafficking, beach and anchor containing
LPS-responsive vesicle trafficking, beach and anchor containing
LPS-responsive vesicle trafficking, beach and anchor containing
LPS-responsive vesicle trafficking, beach and anchor containing
LPS-responsive vesicle trafficking, beach and anchor containing
LPS-responsive vesicle trafficking, beach and anchor containing
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:150264531-151015727
Strand Reverse strand
Band q31.3
Transcripts
ENST00000357115 ENSP00000349629
ENST00000510413 ENSP00000421552
ENST00000503716
ENST00000515096
ENST00000509835 ENSP00000426669
ENST00000510157
ENST00000508606 ENSP00000425852
ENST00000507224 ENSP00000422180
ENST00000513021
ENST00000508396
ENST00000502839 ENSP00000424640
ENST00000514435
ENST00000510841
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005488 binding
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005575 cellular_component
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.480938 Hs.596307 Hs.629663
RefSeq NM_001199282 NM_006726 XM_005263372 XM_005263373 XM_005263374 XM_005263375 XM_005263377 XM_006714429
HUGO
OMIM
CCDS CCDS3773 CCDS58928
HPRD 07344
IMGT
EMBL
GenPept
RNA Seq Atlas