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BANK1 Gene

protein-coding   GIFtS: 49

GC04P102930
B-cell scaffold protein with ankyrin repeats 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BANK 1, 2, 5
FLJ20706 1, 2, 5
FLJ34204 2
Descriptions
B-cell scaffold protein with ankyrin repeats 1 2
External Ids
HGNC: 182331
Entrez Gene: 550242
UniProtKB: Q8NDB23
Ensembl: ENSG000001530647
Search outside databases for aliases for BANK1 gene

Previous GC identifers: GC04P103170 GC04P103069

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for BANK1:
BANK1 is a B-cell-specific scaffold protein and LYN (MIM 165120) tyrosine kinase substrate that
promotes tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors (see ITPR1; MIM
147265) (Yokoyama et al., 2002 [PubMed 11782428]).[supplied by OMIM]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the BANK1 gene  

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)

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P102930:     (about GC identifiers)

Start:
102,930,787 bp from pter
End:
103,214,992 bp from pter
Size:
284,206 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.10  NT_016354.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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; 89335 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   

Post-translational modifications:

  • Phosphorylated on tyrosines upon BCR activation1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_001077376.1  NP_001120979.1  NP_060405.3  


    ENSEMBL proteins: 
    ENSP00000320509 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (BANK1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


    Antibodies for BANK1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (BANK1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for BANK1

    Assays for BANK1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR017893 DBB_domain


       GeneDecks  BANK1 for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BANK1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001127507

                  Applied Biosystems Silencer® siRNAs for BANK1

                  Sigma-Aldrich siRNA for BANK1  
                         Sigma-Aldrich shRNA Panels and shRNA for BANK1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001083907
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001083907
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001083907 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_017935

    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

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bank1):

    hematopoietic systemimmune system

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  BANK1 


    4 Interacting proteins for BANK1 (ENSP000003205093) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITPR1ENSP000003490293STRING (score=.86)
    ITPR2ENSP000003707443STRING (score=.833)
    ANK1ENSP000002657093STRING (score=.752)
    --ENSP000003526373STRING (score=.838)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042113 B cell activation IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for BANK1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BANK1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001127507

                  Sigma-Aldrich siRNA for BANK1  
                         Sigma-Aldrich shRNA Panels and shRNA for BANK1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001083907  NM_001127507  NM_017935  

    REFSEQ mRNAs for BANK1 gene (3 alternative transcripts): 

    NM_001083907.1   NM_001127507.1   NM_017935.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001083907  NM_001127507  NM_017935  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001083907
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001083907
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001083907 

    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 ):

    AI018164 BF222011 BX282056 AA809784 AW769825 BF514276 AW574859 AA876117 
    BF508911 AA732383 AA814890 AA804427 NM_017935 AI864790 AI684654 BE882221 
    BU188057 BE247533 AI707899 AX747038 AI656515 BG611146 AW408429 AK093024 

    highest scoring ESTs for BANK1:

    AI684654 AA412105 AA804427 AA809784 AA814890 AA827109 AA836191 AI218241 AI692787 AI693674 

    Unigene Cluster for BANK1:

    B-cell scaffold protein with ankyrin repeats 1
    Hs.480400  [show with all ESTs]
    Unigene Representative Sequence: NM_017935


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000322953  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    BANK1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for BANK1

    1 / 2 / 3

    7 probe-sets matching BANK1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    77719_at2, 3 U95-E 1 1.00 1.00 0.85 0.91 AI693674 0.80 1.00 0.91 1
    55896_at2, 3 U95-C 1 1.00 1.00 0.98 1.10 AI684654 1.00 1.00 1.00 1

    222915_s_at2, 3 U133-B 1 1.00 1.00 -- -- AA811540 0.40 1.00 0.76 1

    219667_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_017935 0.60 1.00 0.82 1

    1558662_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    222915_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    219667_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  BANK1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TACAAATGCC

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for BANK1 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BANK11   -- B-cell scaffold protein with ankyrin repeats 1 84.45(n)
    77.7(a)
    487881  XM_545003.2  XP_545003.2 
    chimpanzee
    (Pan troglodytes)
    BANK11   -- B-cell scaffold protein with ankyrin repeats 1 99.07(n)
    98.47(a)
    471260  XM_526642.2  XP_526642.2 
    cow
    (Bos taurus)
    BANK11   -- B-cell scaffold protein with ankyrin repeats 1 84.49(n)
    76.37(a)
    616565  XM_868615.2  XP_873708.1 
    rat
    (Rattus norvegicus)
    LOC3659481   -- similar to AVIEF 75.95(n)
    66.41(a)
    365948  XM_345295.3  XP_345296.3 
    mouse
    (Mus musculus)
    Bank11, 5 3 (66.00 cM)5
    B-cell scaffold protein with ankyrin repeats 11, 5 77.01(n)1
    66.67(a)1
    2422481  NM_001033350.21  NP_001028522.21 
     AA1753455  AA1775995  (see all 19)
    About this table        Species with no ortholog for BANK1

    ENSEMBL Gene Tree for BANK1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for BANK1 gene
    PIK3AP12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1455 NCBI SNPs in BANK1 are shown (see all 1455 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 454)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs46992581,2
    A,C,F,H102929711(+) AATACG/ATATAC 1 -- ng517Minor allele frequency- A:0.34NA EU EA WA 554
    rs31136761,2
    C,F,H103184066(+) AGTTCC/TGTGGT 3 C/R mis111Minor allele frequency- T:0.00EU EA WA NA 978
    rs105164871,2
    C,F,H102970099(-) CCAAGC/TGATAT 2 R/H mis121Minor allele frequency- T:0.23NS EA NA EU WA 1578
    rs37331971,2
    C,F,H103058310(+) ACCCCG/ACACAT 3 T/A mis1 ese314Minor allele frequency- A:0.21EA EU WA NA 1958
    rs68426611,2
    C,F,H103214286(+) ACTATG/AACAGC 3 -- ut31 ese38Minor allele frequency- A:0.32EA NA EU WA 636
    rs100161811,2
    F,H102953680(+) gaattA/Cccaaa 2 -- ng51 int14Minor allele frequency- C:0.04EU EA WA 418
    --
    rs65329691,2
    A,C102928851(+) GGGGAA/GGGGGG 1 -- ng51 tfbs3 trp30--------
    rs126400561,2
    F,H103214262(+) CTGCTC/TTCTTT 3 -- ut314Minor allele frequency- T:0.27EU EA WA 408
    rs100234311,2
    H103215122(+) TTCTAG/ACTTCT 2 -- ng314Minor allele frequency- A:0.00EU EA WA 404
    rs284852581,2
    C103002721(+) AAATAT/GTCATA 3 V/F mis1 ese31Minor allele frequency- G:0.03NA 40
    About this table

    HapMap Linkage Disequilibrium images for BANK1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 610292   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
  • Human Gene Mutation Database: BANK1
    Human Genome Epidemiology Navigator: BANK1 (6 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/12 PubMed articles for BANK1 gene (see all 12 ):
    (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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for BANK1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for BANK1 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for BANK1 Browse small molecules at Sigma-Aldrich
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