U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
B-cell scaffold protein with ankyrin repeats

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools