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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BANK1 Gene

protein-coding   GIFtS: 50
GCID: GC04P102332

B-cell scaffold protein with ankyrin repeats 1

 Explore 8 diseases affiliated with
BANK1 via our new
 Human Malady Compendium 
Biological research products
for BANK1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
B-Cell Scaffold Protein With Ankyrin Repeats 11 2
BANK1 2 5
FLJ207061 5
B-Cell Scaffold Protein With Ankyrin Repeats2

External Ids:    HGNC: 182331   Entrez Gene: 550242   Ensembl: ENSG000001530647   OMIM: 6102925   UniProtKB: Q8NDB23   

Export aliases for BANK1 gene to outside databases

Previous GC identifers: GC04P103170 GC04P103069 GC04P102930 GC04P102711 GC04P098449


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BANK1:
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)

UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
Function: Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes
Lyn-mediated phosphorylation of IP3 receptors 1 and 2




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BANK1 gene promoter:
         TBP   LHX3b/Lhx3b   AML1a   Evi-1   POU2F1   POU2F1a   c-Myb   LHX3a/Lhx3a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBANK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BANK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BANK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q23

BANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BANK1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P102332:  view genomic region     (about GC identifiers)

Start:
102,332,443 bp from pter      End:
102,995,969 bp from pter
Size:
663,527 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2 (See protein sequence)
Recommended Name: B-cell scaffold protein with ankyrin repeats  
Size: 785 amino acids; 89282 Da
Subunit: Interacts with LYN, ITPR1 and ITPR2
Sequence caution: Sequence=BAA91337.1; Type=Frameshift; Positions=571, 681;
Secondary accessions: A8K7W8 B0F3S2 Q8N5K8 Q8NB56 Q8WYN5 Q9NWP2
Alternative splicing: 4 isoforms:  Q8NDB2-1   Q8NDB2-2   Q8NDB2-3   Q8NDB2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BANK1: NX_Q8NDB2

Post-translational modifications:

  • Phosphorylated on tyrosines upon BCR activation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NDB2

  • BANK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001077376.2  NP_001120979.2  NP_060405.4  

    ENSEMBL proteins: 
     ENSP00000421443   ENSP00000320509   ENSP00000422314   ENSP00000388817   ENSP00000412748  

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    Uscn Proteins for BANK1


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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BANK1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017893 DBB_domain
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8NDB2

    ProtoNet protein and cluster: Q8NDB2

    UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
    Similarity: Contains 2 ANK repeats
    Similarity: Contains 1 DBB domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
    Function: Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes
    Lyn-mediated phosphorylation of IP3 receptors 1 and 2

    miRNA
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    hsa-miR-539 hsa-miR-374b hsa-miR-4263 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidBANK1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANK1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    BANK1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Bank1tm1Kuro for BANK1
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bank1):
     cellular  hematopoietic system  immune system 

    BANK1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1B Cell Receptor Signaling Pathway
    B Cell Receptor Signaling Pathway1.00


    1 BioSystems Pathway for BANK1 
        B Cell Receptor Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BANK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/77 Interacting proteins for BANK1 (Q8NDB22, 3 ENSP000003205094) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 I2D: score=1 STRING: ENSP00000238081
    ITPR1Q146433, ENSP000004059344I2D: score=1 STRING: ENSP00000405934
    ITPR2Q145713, ENSP000003707444I2D: score=1 STRING: ENSP00000370744
    YWHAZP631042, ENSP000003095034MINT-7899812 STRING: ENSP00000309503
    TRAF1Q130773, ENSP000003629944I2D: score=1 STRING: ENSP00000362994
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042113B cell activation IEA--


    BANK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BANK1
    Search CenterWatch for drugs/clinical trials and news about BANK1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BANK1 gene (3 alternative transcripts): 
    NM_001083907.2  NM_001127507.2  NM_017935.4  

    Unigene Cluster for BANK1:

    B-cell scaffold protein with ankyrin repeats 1
    Hs.480400  [show with all ESTs]
    Unigene Representative Sequence: NM_017935
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502990 ENST00000504592(uc003hvx.4) ENST00000322953(uc003hvy.4)
    ENST00000508653 ENST00000444316(uc003hvz.4) ENST00000510950 ENST00000504403
    ENST00000428908(uc010ill.3)

    miRNA
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    hsa-miR-539 hsa-miR-374b hsa-miR-4263 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidBANK1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BANK1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BANK1

    Additional cDNA sequence: 

    AB063170.1 AK093024.1 AK292133.1 AK301936.1 AL834291.1 BC032241.1 EU051376.1 

    5 DOTS entries:

    DT.440743  DT.100018970  DT.100746931  DT.99933693  DT.100746932 

    24/65 AceView cDNA sequences (see all 65):

    BF514276 AI864790 AW769825 AI018164 BF508911 BF222011 AA876117 AI684654 
    AA732383 AA809784 AA804427 NM_017935 AA814890 BX282056 AW574859 AA393078 
    BG217237 BM549791 AW408429 AI692787 AK093024 BE247533 AK091523 AK000713 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAAATGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    BANK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BANK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BANK1

    SOURCE GeneReport for Unigene cluster: Hs.480400

    UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
    Tissue specificity: Expressed in B-cell but not T-cell or myeloid cell lines. Highest expression in CD19(+) B-cells,
    with very low expression in other cell populations

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BANK1 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BANK11 B-cell scaffold protein with ankyrin repeats 1 53.22(n)
    37.44(a)
      422711  XM_420665.3  XP_420665.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    56(a)
    43(a)
    1 ↔ many
    1 ↔ many
    GL343323.1(133499-160190)
    GL343323.1(354014-389514)
    fruit fly
    (Drosophila melanogaster)
    Insecta stumps6
    stumps
    9(a)
    1 → many
    3R(10402941-10433804)


    ENSEMBL Gene Tree for BANK1 (if available)
    TreeFam Gene Tree for BANK1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BANK1 gene
    PIK3AP12  

    BANK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for BANK1
         9 CNVs: 92273 31184 92274 92275 80414 92276 3504 92272 2537
         2 Indels: 62242 46468
    Human Gene Mutation Database (HGMD): BANK1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for BANK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BANK1 for disorders           About GeneDecksing

    OMIM gene information: 610292   
    OMIM disorders: 152700  
    UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
  • Genetic variations in BANK1 influence susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. SLE
  • is a chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the
    skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the
    autoimmune system

    8 diseases for BANK1:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    systemic lupus erythematosus, association with    systemic scleroderma
    antiphospholipid syndrome    rheumatoid arthritis    scleroderma    arthritis

    1 disease from the University of Copenhagen DISEASES database for BANK1:
    Systemic lupus erythematosus
    Human Genome Epidemiology (HuGE) Navigator: BANK1 (20 documents)

    Export disorders for BANK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BANK1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with BANK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP3 receptor. (PubMed id 11782428)1, 2, 3 Yokoyama K.... Yamamoto T. (2002)
    2. The association between BANK1 and TNFAIP3 gene polymo rphisms and systemic lupus erythematosus: a meta-analysis. (PubMed id 21208380)1, 3 Fan Y....Ye D.Q. (2011)
    3. C8orf13-BLK is a genetic risk locus for systemic scle rosis and has additive effects with BANK1: results from a large french cohort a nd meta-analysis. (PubMed id 21480188)1, 3 Coustet B....Allanore Y. (2011)
    4. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. (PubMed id 18204447)1, 2 Kozyrev S.V.... Alarcon-Riquelme M.E. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The dual effect of the lupus-associated polymorphism r s10516487 on BANK1 gene expression and protein localization. (PubMed id 21900951)1 Kozyrev S.V....Castillejo-Lopez C. (2012)
    8. Genome-wide linkage and association scans for pulse pressure in Chinese twins. (PubMed id 22763476)1 Zhang D....Tan Q. (2012)
    9. Genetic and physical interaction of the B-cell system ic lupus erythematosus-associated genes BANK1 and BLK. (PubMed id 21978998)1 Castillejo-LA^pez C....AlarcA^n-Riquelme M.E. (2012)
    10. Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients . (PubMed id 20881011)1 Webb R....Sawalha A.H. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55024 HGNC: 18233 AceView: BANK1 Ensembl:ENSG00000153064 euGenes: HUgn55024
    ECgene: BANK1 H-InvDB: BANK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BANK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BANK1 gene:
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