Homo sapiens Gene: LRBA | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 4:150264531-151015727 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q31.3 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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 | |||||||||||||||||||