InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRBA

Summary

InnateDB Protein

IDBP-478428.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRBA

Protein Name

LPS-responsive vesicle trafficking, beach and anchor containing

Synonyms

BGL; CDC4L; CVID8; LAB300; LBA;

Species

Homo sapiens

Ensembl Protein

ENSP00000421552

InnateDB Gene

IDBG-40834 (LRBA)

Protein Structure

UniProt Annotation

Function

May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Lysosome {ECO:0000250}.

Disease Associations

Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700]: An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early- childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. {ECO:0000269PubMed:22608502}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:12160729}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000409 BEACH domain
IPR001680 WD40 repeat
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR010508 Domain of unknown function DUF1088
IPR016024 Armadillo-type fold
IPR017986 WD40-repeat-containing domain

PFAM

PF02138
PF00400
PF06469

PRINTS

PIRSF

SMART

SM01026
SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P50851