InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BLNK

Summary

InnateDB Protein

IDBP-83726.6

Last Modified

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

Gene Symbol

BLNK

Protein Name

B-cell linker

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000224337

InnateDB Gene

IDBG-83724 (BLNK)

Protein Structure

UniProt Annotation

Function

Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR- mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis. {ECO:0000269PubMed:10583958, ECO:0000269PubMed:15270728, ECO:0000269PubMed:16912232, ECO:0000269PubMed:9697839}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:9697839}. Cell membrane {ECO:0000269PubMed:9697839}. Note=BCR activation results in the translocation to membrane fraction.

Disease Associations

Agammaglobulinemia 4, autosomal recessive (AGM4) [MIM:613502]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269PubMed:10583958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in B-cell lineage and fibroblast cell lines (at protein level). Highest levels of expression in the spleen, with lower levels in the liver, kidney, pancreas, small intestines and colon.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	50 [view]
Protein-Protein	48 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity
GO:0005070	SH3/SH2 adaptor activity
GO:0005515	protein binding

Biological Process

GO:0006954	inflammatory response
GO:0006959	humoral immune response
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway
GO:0009967	positive regulation of signal transduction
GO:0030183	B cell differentiation
GO:0035556	intracellular signal transduction