InnateDB Protein
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IDBP-83728.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BLNK
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Protein Name
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B-cell linker
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360218
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InnateDB Gene
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IDBG-83724 (BLNK)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:9697839}. Cell membrane {ECO:0000269PubMed:9697839}. Note=BCR activation results in the translocation to membrane fraction.
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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.
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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.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
48
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
11 [view]
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Molecular Function |
Accession |
GO Term |
GO:0005068
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transmembrane receptor protein tyrosine kinase adaptor activity
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GO:0005070
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SH3/SH2 adaptor activity
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GO:0005515
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protein binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000980
SH2 domain
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PFAM |
PF00017
PF14633
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PRINTS |
PR00401
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PIRSF |
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SMART |
SM00252
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WV28
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PhosphoSite |
PhosphoSite-Q8WV28
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
29760
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UniGene |
Hs.665244
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RefSeq |
NP_001107566
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HUGO |
HGNC:14211
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OMIM |
604515
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CCDS |
CCDS44464
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HPRD |
05153
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IMGT |
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EMBL |
AC021037
AF068180
AF068181
AF180740
AF180741
AF180742
AF180743
AF180744
AF180745
AF180746
AF180747
AF180748
AF180749
AF180750
AF180751
AF180752
AF180753
AF180754
AF180755
AF180756
AM180337
BC018906
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GenPept |
AAC39936
AAC39937
AAF20382
AAF20383
AAH18906
CAJ55331
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