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    BANK1 B cell scaffold protein with ankyrin repeats 1 [ Homo sapiens (human) ]

    Gene ID: 55024, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BANK1provided by HGNC
    Official Full Name
    B cell scaffold protein with ankyrin repeats 1provided by HGNC
    Primary source
    HGNC:HGNC:18233
    See related
    Ensembl:ENSG00000153064 MIM:610292; AllianceGenome:HGNC:18233
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BANK
    Summary
    The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in lymph node (RPKM 39.0), spleen (RPKM 27.4) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BANK1 in Genome Data Viewer
    Location:
    4q24
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (101790730..102074812)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (105104977..105389016)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (102711887..102995969)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900741 Neighboring gene uncharacterized LOC107986297 Neighboring gene Sharpr-MPRA regulatory region 13477 Neighboring gene RNA, U6 small nuclear 462, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15594 Neighboring gene MPRA-validated peak5084 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:102874961-102875511 Neighboring gene MPRA-validated peak5086 silencer Neighboring gene MT-ND5 pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103131208-103131806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103131807-103132405 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:103188587-103189786 Neighboring gene solute carrier family 39 member 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103242691-103243218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21751 Neighboring gene RNA, 7SL, cytoplasmic 728, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese. Guan M, et al. Rheumatology (Oxford), 2011 Mar. PMID 21078628
    2. Altered BANK1 expression is not associated with humoral autoimmunity in chronic joint inflammation. Cantaert T, et al. Rheumatology (Oxford), 2013 Feb. PMID 23065315
    3. Genome-wide association study of working memory brain activation. Blokland GAM, et al. Int J Psychophysiol, 2017 May. PMID 27671502, Free PMC Article
    4. The BANK1 SLE-risk variants are associated with alterations in peripheral B cell signaling and development in humans. Dam EM, et al. Clin Immunol, 2016 Dec. PMID 27816669, Free PMC Article
    5. Association between BANK1 polymorphisms and susceptibility to autoimmune diseases: A meta-analysis. Bae SC, et al. Cell Mol Biol (Noisy-le-grand), 2017 Mar 31. PMID 28466820

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
      Title: Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
    2. IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.
      Title: IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.
    3. Variants in BANK1 are associated with lupus nephritis of European ancestry.
      Title: Variants in BANK1 are associated with lupus nephritis of European ancestry.
    4. The Role of BANK1 in B Cell Signaling and Disease.
      Title: The Role of BANK1 in B Cell Signaling and Disease.
    5. BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjogren's syndrome and with some clinical features.
      Title: BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjögren's syndrome and with some clinical features.
    6. Connection of BANK1, Tolerance, Regulatory B cells, and Apoptosis: Perspectives of a Reductionist Investigation.
      Title: Connection of BANK1, Tolerance, Regulatory B cells, and Apoptosis: Perspectives of a Reductionist Investigation.
    7. 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.
      Title: BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.
    8. 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.
      Title: Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
    9. 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.
      Title: Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population.
    10. 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.
      Title: Trans-Ethnic Mapping of BANK1 Identifies Two Independent SLE-Risk Linkage Groups Enriched for Co-Transcriptional Splicing Marks.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide linkage and association scans for pulse pressure in Chinese twins.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20706, FLJ34204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in B cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in B cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of B cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of translational initiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    B-cell scaffold protein with ankyrin repeats

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015824.2 RefSeqGene

      Range
      5002..289084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083907.3 → NP_001077376.3  B-cell scaffold protein with ankyrin repeats isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon at its 5' end, compared to variant 1, which produces a unique 5' UTR and causes translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC095062, AC109928, AP002075
      Consensus CDS
      CCDS47116.1
      Related
      ENSP00000388817.2, ENST00000444316.2
      Conserved Domains (2) summary
      pfam14545
      Location:169 → 298
      DBB; Dof, BCAP, and BANK (DBB) motif,
      pfam18567
      Location:1 → 124
      TIR_3; Toll/interleukin-1 receptor domain

    2. NM_001127507.3 → NP_001120979.3  B-cell scaffold protein with ankyrin repeats isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1.
      Source sequence(s)
      AC095062, AC109928, AP002075
      Consensus CDS
      CCDS47115.1
      Related
      ENSP00000412748.1, ENST00000428908.5
      Conserved Domains (1) summary
      pfam14545
      Location:66 → 195
      DBB; Dof, BCAP, and BANK (DBB) motif,

    3. NM_017935.5 → NP_060405.5  B-cell scaffold protein with ankyrin repeats isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC095062, AC109928, AP002075
      Consensus CDS
      CCDS34038.1
      UniProtKB/Swiss-Prot
      A8K7W8, B0F3S2, Q8N5K8, Q8NB56, Q8NDB2, Q8WYN5, Q9NWP2
      Related
      ENSP00000320509.4, ENST00000322953.9
      Conserved Domains (1) summary
      pfam14545
      Location:199 → 328
      DBB; Dof, BCAP, and BANK (DBB) motif,

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      101790730..102074812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      105104977..105389016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDB2.3 GenPept UniProtKB/Swiss-Prot:Q8NDB2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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