| UniProt Protein Function: | BLNK: an adaptor protein that bridges the B-cell receptor-associated kinases (BCR) with a multitude of signaling pathways, regulating biologic outcomes of B-cell function and development. Plays an important role in BCR-mediated PLCG1 activation and Ca(2 ) mobilization. Does not seem to be not required for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. Following BCR activation, phosphorylated on tyrosine residues by SYK and LYN. When phosphorylated, serves as a scaffold to assemble downstream targets of antigen activation, including PLCG1, VAV1, GRB2 and NCK1. Its phosphorylation is required for both Ca(2 ) and MAPK signaling pathways. Defects in BLNK are the cause of hypoglobulinemia and absent B-cells.It has tumor supressor activity that is lost in many cases of childhood pre-B acute lymphoblastic leukemia (ALL). Two alternatively spliced isoforms have been described; these are differentially involved in activation and apoptosis of B lymphocytes. |
| UniProt Protein Details: | Protein type:Adaptor/scaffold Chromosomal Location of Human Ortholog: 10q23.2-q23.33 Cellular Component: cytoplasm; cytosol; plasma membrane Molecular Function:protein binding; SH3/SH2 adaptor activity; transmembrane receptor protein tyrosine kinase adaptor protein activity Biological Process: humoral immune response; inflammatory response Disease: Agammaglobulinemia 4, Autosomal Recessive |
| NCBI Summary: | This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] |
| UniProt Code: | Q8WV28 |
| NCBI GenInfo Identifier: | 82592659 |
| NCBI Gene ID: | 29760 |
| NCBI Accession: | Q8WV28.2 |
| UniProt Secondary Accession: | Q8WV28,O75498, O75499, Q2MD49, |
| UniProt Related Accession: | Q8WV28 |
| Molecular Weight: | 44,451 Da |
| NCBI Full Name: | B-cell linker protein |
| NCBI Synonym Full Names: | B-cell linker |
| NCBI Official Symbol: | BLNK |
| NCBI Official Synonym Symbols: | bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65 |
| NCBI Protein Information: | B-cell linker protein |
| UniProt Protein Name: | B-cell linker protein |
| UniProt Synonym Protein Names: | B-cell adapter containing a SH2 domain protein; B-cell adapter containing a Src homology 2 domain protein; Cytoplasmic adapter protein; Src homology 2 domain-containing leukocyte protein of 65 kDa; SLP-65 |
| Protein Family: | B-cell linker protein |
| UniProt Gene Name: | BLNK |
| UniProt Entry Name: | BLNK_HUMAN |
