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55024 BANK1

55024

BANK1

B cell scaffold protein with ankyrin repeats 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition B cell scaffold protein with ankyrin repeats 1

研究结论

Date Results Publications
2019-12-28 11:37:00 This is the first study showing an association of BLK rs2736340T/C and rs13277113A/G and BANK1 R61H with susceptibility to SLE in a Latin-American population. In addition, some BLK and BANK1 interactions were associated with susceptibility to SLE. 31134304
2019-06-08 12:54:00 Study demonstrates the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines. 31101814
2019-06-01 12:28:00 This study was the first to demonstrate that a BANK1 gene SNP (rs3733197) could confer genetic predisposition in polymyositis/dermatomyositis (PM/DM) patients and PM/DM patients with ILD in a Chinese Han population. 30145638
2018-12-22 10:22:00 Our data defines a minimal set of risk associated eQTLs predicted to be involved in the expression of BANK1 modulated through epigenetic regulation and splicing. These findings allow us to suggest that the increased expression of BANK1 will have an impact on B-cell mediated disease pathways. 30096841
2018-06-09 11:20:00 our results indicated that the BLK rs13277113 polymorphism was involved in the genetic background of RA in Chinese population and the association of BANK1 rs3733197 polymorphism with RA was dependent on the genotype of BLK rs13277113 polymorphism, highlighting B-cell response implicated in the pathogenesis of RA. 28925718

名称对应

Type IDs
Synonymous BANK
Gene
UniProtKB-ID: BANK1_HUMAN
UniprotKB: Q8NDB2
UniParc: UPI000020B253, UPI0000E090D7, UPI000020B24F, UPI0000D6159D
EMBL: AL834291, AB063170, BC032241, AK091523, AC095062, AK000713, EU051376, AC109928, AC093694, AP002075, AK292133
Ensembl: ENSG00000153064
KO: hsa:55024
Nucleutide sequences
EMBL-CDS: BAA91337.1, AAH32241.2, BAF84822.1, ABW74340.1, BAC03685.1, BAB79255.1, CAD38965.2
Ensembl_TRS: ENST00000428908, ENST00000322953, ENST00000508653, ENST00000444316, ENST00000504592
Protein sequencees
Ensembl_PRO: ENSP00000412748, ENSP00000388817, ENSP00000320509, ENSP00000422314, ENSP00000421443
RefSeq: NP_001120979.3, NP_060405.5, NP_001077376.3, XP_016863826.1
Others
UniRef100: UniRef100_Q8NDB2
UniRef90: UniRef90_Q8NDB2
UniRef50: UniRef50_Q8NDB2
UniGene: Hs.480400
CCDS: CCDS47116.1, CCDS34038.1

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研究热度

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