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Article

The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.

Genes and immunity - 1 Mar 2016

Díaz-Barreiro A, Bernal-Quirós M, Georg I, Marañón C, Alarcón-Riquelme M E, Castillejo-López C

Abstract excerpt

The B-lymphocyte kinase (BLK) gene is associated genetically with several human autoimmune diseases including systemic lupus erythematosus. We recently described that the genetic risk is given by two haplotypes: one covering several strongly linked single-nucleotide polymorphisms within the promoter of the gene that correlated with low transcript levels, and a second haplotype that includes a rare nonsynonymous...

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Source

Identifiers

PMID: 26821283
DOI: 10.1038/gene.2016.1

Genes

BLK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.PMID 26821283Read ↗

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Functional rare and low frequency variants in BLK and BANK1 contribute to human lupusSemantic proximity Read ↗

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.Semantic proximity Read ↗

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.Semantic proximity Read ↗

The Role of BANK1 in B Cell Signaling and Disease.Semantic proximity Read ↗

The BANK1 SLE-risk variants are associated with alterations in peripheral B cell signaling and development in humans.Semantic proximity Read ↗

BANK1 and BLK act through phospholipase C gamma 2 in B-cell signaling.Semantic proximity Read ↗

Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells.Semantic proximity Read ↗

The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.Semantic proximity Read ↗

BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosusSemantic proximity Read ↗

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