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

TAPBP Gene

protein-coding   GIFtS: 65
GCID: GC06M033267

TAP Binding Protein (Tapasin)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TAP Binding Protein (Tapasin)1 2     TPN2 3
TPSN2 3 5     TAP-Associated Protein2 3
NGS-172 3     TAP-Binding Protein2 3
NGS172 3     tapasin2
TAPA2 3     

External Ids:    HGNC: 115661   Entrez Gene: 68922   Ensembl: ENSG000002319257   OMIM: 6019625   UniProtKB: O155333   

Export aliases for TAPBP gene to outside databases

Previous GC identifers: GC06M033269 GC06M033314 GC06M033375 GC06M033009


(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 TAPBP Gene:
This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major
histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP),
which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This
interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC
class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine
motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major
histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding
different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for TAPBP Gene: 
TAPBP (TAP binding protein (tapasin)) is a protein-coding gene. Diseases associated with TAPBP include orbital melanoma, and maxillary sinus squamous cell carcinoma, and among its related super-pathways are ER-Phagosome pathway and Immune System. GO annotations related to this gene include unfolded protein binding and MHC class I protein binding. An important paralog of this gene is TAPBPL.

UniProtKB/Swiss-Prot: TPSN_HUMAN, O15533
Function: Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and
in the assembly of MHC class I with peptide (peptide loading)

Gene Wiki entry for TAPBP (Tapasin) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167245.1  NT_167247.1  NT_167248.1  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TAPBP gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   p53   AP-1   E2F-2   E2F   E2F-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTAPBP promoter sequence
   Search SABiosciences Chromatin IP Primers for TAPBP

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


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M033267:  view genomic region     (about GC identifiers)

Start:
33,267,471 bp from pter      End:
33,282,164 bp from pter
Size:
14,694 bases      Orientation:
minus strand

4 alternative locations:
Chr6-,NT_113891.2 4,711,285-4,725,976      Chr6-,NT_167245 4,548,797-4,563,487      Chr6-,NT_167247 4,741,215-4,755,906     
Chr6-,NT_167248 4,499,711-4,514,410     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TPSN_HUMAN, O15533 (See protein sequence)
Recommended Name: Tapasin precursor  
Size: 448 amino acids; 47626 Da
Subunit: Heterodimer with PDIA3; disulfide-linked. Interacts with TAP1 and is thus a subunit of the TAP complex,
also known as the peptide loading complex (PLC). Interaction with TAP1 is TAP2-independent and is required for
efficient peptide-TAP interaction. Obligatory mediator for the interaction between newly assembled MHC class I
molecules, clareticulin, PDIA3 and TAP. Up to 4 MHC class I/tapasin complexes bind to 1 TAP
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein (Probable)
Sequence caution: Sequence=AAD32924.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
1 PDB 3D structure from and Proteopedia for TAPBP:
3F8U (3D)    
Secondary accessions: A2AB91 A2ABC0 B0V003 B0V0A6 B2ZUA4 E9PGM2 O15210 O15272 Q5STJ8 Q5STK6
Q5STQ5 Q5STQ6 Q66K65 Q96KK7 Q9HAN8 Q9UEE0 Q9UEE4 Q9UIZ6 Q9Y6K2
Alternative splicing: 4 isoforms:  O15533-1   O15533-2   O15533-3   O15533-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TAPBP: NX_O15533

Explore proteomics data for TAPBP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15533

  • TAPBP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TAPBP Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_003181.3  NP_757345.2  NP_757346.2  

    ENSEMBL proteins: 
     ENSP00000395701   ENSP00000417949   ENSP00000419659   ENSP00000404833   ENSP00000417523  
     ENSP00000387803  
    Reactome Protein details: O15533
    Human Recombinant Protein Products for TAPBP: 
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    Novus Biologicals TAPBP Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA11884415
    GO:0005783endoplasmic reticulum TAS9238042
    GO:0005789endoplasmic reticulum membrane IDA11884415
    GO:0016020membrane ----
    GO:0016021integral to membrane TAS9238042

    TAPBP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    4 InterPro protein domains:
     IPR007110 Ig-like_dom
     IPR008056 Tapasin
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry O15533

    ProtoNet protein and cluster: O15533

    2 Blocks protein domains:
    IPB003597 Immunoglobulin C-type
    IPB008056 Tapasin signature


    UniProtKB/Swiss-Prot: TPSN_HUMAN, O15533
    Domain: The N-terminus is required for efficient association with MHC class I molecule and for a stable
    interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminus region
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    TAPBP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPSN_HUMAN, O15533
    Function: Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and
    in the assembly of MHC class I with peptide (peptide loading)

         Genatlas biochemistry entry for TAPBP:
    tapasin,truncated actin P binding protein,21kDa,widely expressed,involved in the assembly and function of
    multimeric MHC class J-TAP complexes,transporter associated with antigen processing

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12213826
    GO:0015433peptide antigen-transporting ATPase activity TAS9238042
    GO:0042288MHC class I protein binding TAS12788224
    GO:0042605peptide antigen binding TAS12788224
    GO:0046978TAP1 binding TAS12788224
         
    TAPBP for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for TAPBP:
     Cell division defect  Decreased Wnt reporter activit  Increased G2M DNA content  Increased number of mitotic ce 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tapbp):
     cellular  hematopoietic system  immune system 

    TAPBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TAPBP: Tapbptm1Gjh Tapbptm1Luc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TAPBP 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAPBP 
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    SwitchGear 3'UTR luciferase reporter plasmidTAPBP 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TAPBP About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.81
    Antigen processing-Cross presentation0.81
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Immune response Antigen presentation by MHC class I
    Immune response Antigen presentation by MHC class I0.92
    4Antigen processing: Ubiquitination & Proteasome degradation
    Class I MHC mediated antigen processing & presentation0.83
    5Allograft rejection
    Antigen processing and presentation0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TAPBP
        Immune response Antigen presentation by MHC class I


    1 GeneGo (Thomson Reuters) Pathway for TAPBP
        Immune response Antigen presentation by MHC class I


    5/6        Reactome Pathways for TAPBP (see all 6)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Antigen processing-Cross presentation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    ER-Phagosome pathway


    1         Kegg Pathway  (Kegg details for TAPBP):
        Antigen processing and presentation


    TAPBP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TAPBP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/26 Interacting proteins for TAPBP (O155331, 2, 3 ENSP000003957014) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206235Q035191, 3EBI-874801,EBI-780781 I2D: score=4 
    ENSG00000206299Q035191, 3EBI-874801,EBI-780781 I2D: score=4 
    ENSG00000223481Q035191, 3EBI-874801,EBI-780781 I2D: score=4 
    ENSG00000225967Q035191, 3EBI-874801,EBI-780781 I2D: score=4 
    ENSG00000228582Q035191, 3EBI-874801,EBI-780781 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0006461protein complex assembly TAS9271576
    GO:0006890retrograde vesicle-mediated transport, Golgi to ER NAS11884415
    GO:0006952defense response IEA--

    TAPBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TAPBP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TAPBP (TPSN)

    9 Novoseek inferred chemical compound relationships for TAPBP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 19.6 3 18039656 (1), 14978101 (1), 19687800 (1)
    polysaccharide 12.7 2 11160214 (1), 19959473 (1)
    histidine 8.63 6 12517962 (3)
    lysine 0 10 16751394 (5), 10085102 (1), 15634919 (1)
    alanine 0 6 15634919 (2), 16751394 (1)
    arginine 0 2 12517962 (1)
    aspartate 0 3 11069086 (1), 12517962 (1)
    retinoic acid 0 2 10088603 (1), 17389020 (1)
    glutamine 0 2 12517962 (1)

    Search CenterWatch for drugs/clinical trials and news about TAPBP / TPSN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TAPBP gene (3 alternative transcripts): 
    NM_003190.4  NM_172208.2  NM_172209.2  

    Unigene Cluster for TAPBP:

    TAP binding protein (tapasin)
    Hs.370937  [show with all ESTs]
    Unigene Representative Sequence: NM_003190
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434618(uc003odx.2 uc010jut.2) ENST00000475304 ENST00000489157
    ENST00000426633(uc003odz.3) ENST00000480730(uc003ody.3) ENST00000437116
    ENST00000467025 ENST00000476333 ENST00000456592(uc011drc.2)
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    SwitchGear 3'UTR luciferase reporter plasmidTAPBP 3' UTR sequence
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    Additional mRNA sequence: 

    AB010639.1 AF009510.1 AF029750.1 AF067286.3 AF314222.1 AY007154.1 BC064966.1 BC080574.1 
    EU693375.1 Y13582.1 

    24 DOTS entries:

    DT.100687058  DT.100687064  DT.91843367  DT.449485  DT.95319488  DT.100775691  DT.97821824  DT.97862163 
    DT.92403120  DT.121364773  DT.95128721  DT.97862158  DT.80100178  DT.95336683  DT.100045302  DT.91694893 
    DT.92468618  DT.100763210  DT.102833958  DT.121364801  DT.95105196  DT.97863628  DT.100733389  DT.100793304 

    24/461 AceView cDNA sequences (see all 461):

    CA435322 BQ433668 CA428263 BU679276 BG153429 AI673729 R46457 AA323309 
    AF314222 CD366980 AI090126 CA425374 AF009510 BF914956 AY007154 BQ028977 
    BM806505 BU194614 AI568002 AU117273 BM685617 BM914687 AI936180 NM_003190 

    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

    TAPBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCCTCGA
    TAPBP Expression
    About this image


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

    SOURCE GeneReport for Unigene cluster: Hs.370937

    UniProtKB/Swiss-Prot: TPSN_HUMAN, O15533
    Tissue specificity: Neutrophils, mostly in fully differentiated cells

        SABiosciences Expression via Pathway-Focused PCR Array including TAPBP: 
              Antigen Presenting Cells in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAPBP

    (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 chordates.

    Orthologs for TAPBP gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tapbp1 , 5 TAP binding protein1, 5 78.52(n)1
    75.17(a)1
      17 (17.98 cM)5
    213561  NM_001025313.11  NP_001020484.11 
     339158995 
    chicken
    (Gallus gallus)
    Aves TAPBP1 TAP binding protein (tapasin) 50.17(n)
    38.01(a)
      417048  NM_001034816.2  NP_001029988.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tapbp1 TAP binding protein 46.03(n)
    34.2(a)
      30163  NM_130974.1  NP_571049.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TAPBP gene
    TAPBPL2  

    TAPBP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    UniProtKB/Swiss-Prot: TPSN_HUMAN, O15533
    Polymorphism: The 2 alleles of TAPBP; TAPBP*01 (Tapasin*01) (shown here) and TAPBP*02 (Tapasin*02); are in linkage
    disequilibria with the HLA-DRB1 locus in a Japanese population


    10/441 SNPs in TAPBP are shown (see all 441)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1855541871,2
    --33182755(+) AGATTA/CCAGTC 2 -- ds50010--------
    rs734100031,2
    C,F--33182777(+) GGGGAA/GGGCAG 2 -- ds50013Minor allele frequency- G:0.30WA CSA 122
    rs22828501,2
    C,F,H--33182866(+) CCGGTC/TACTCC 2 -- ds500116Minor allele frequency- T:0.15NS EA NA MN CSA WA 1464
    rs1904318391,2
    --33183046(+) GAGATC/GCCCGT 2 -- ds50010--------
    rs1433514131,2
    --33183057(+) CGGCTC/GGGTGT 2 -- ds50010--------
    rs759803321,2
    C,F--33183094(+) TTGAGC/TGCATC 2 -- ds50011Minor allele frequency- T:0.02EA 120
    rs1806840221,2
    --33183140(+) TCGACA/GGGGCG 2 -- ds50010--------
    rs1852593511,2
    --33183217(+) AGGGGC/TTGGAA 2 -- ds50010--------
    rs412667291,2
    C,F--33183284(+) GTTACC/TCCGTG 2 -- ut311Minor allele frequency- T:0.01NA 120
    rs10592971,2
    C--33183291(-) CCAGAC/GCCACG 2 -- ut312Minor allele frequency- G:0.13WA 120

    HapMap Linkage Disequilibrium report for TAPBP (33267471 - 33282164 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TAPBP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830634CNV Loss17160897
    nsv830635CNV Loss17160897
    nsv823665CNV Gain20364138


    Human Gene Mutation Database (HGMD): TAPBP

    Locus Specific Mutation Databases (LSDB): TAPBP
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TAPBP
    DNA2.0 Custom Variant and Variant Library Synthesis for TAPBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601962   
    OMIM disorders: 604571  
    20/26 diseases for TAPBP (see all 26):    About MalaCards
    orbital melanoma    maxillary sinus squamous cell carcinoma    mhc class i deficiency    bare lymphocyte syndrome
    spondylitis    juvenile rheumatoid arthritis    sinusitis    ankylosing spondylitis
    oral squamous cell carcinoma    squamous cell carcinoma    acute lymphoblastic leukemia    melanoma
    lymphoblastic leukemia    rheumatoid arthritis    cervical cancer    arthritis
    renal cell carcinoma    type 1 diabetes    systemic lupus erythematosus    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for TAPBP:
    MHC class I deficiency

    TAPBP for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for TAPBP gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hla class i deficiency 76.8 3 12149238 (3)
    spondylitis ankylosing 43.2 4 17082617 (2), 16385505 (1)
    lung carcinoma 22.9 4 11169257 (1), 18316574 (1)
    tumors 17.4 45 11169257 (6), 18316574 (3), 15163903 (3), 14519625 (2) (see all 13)
    colorectal tumors 16 4 15455354 (3), 14750179 (1)
    small cell lung cancer 9.07 2 17143611 (1), 16140964 (1)
    carcinoma squamous cell 8.4 5 11169257 (1), 14519625 (1), 20204276 (1), 11162627 (1)
    pancreatic carcinoma 7.51 1 11169257 (1)
    necrosis 3.81 1 11169257 (1)
    melanoma 2.04 9 12682852 (4), 18046553 (1), 18194274 (1)

    Genetic Association Database (GAD): TAPBP
    Human Genome Epidemiology (HuGE) Navigator: TAPBP (9 documents)

    Export disorders for TAPBP 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 TAPBP gene, integrated from 9 sources (see all 228):
    (articles sorted by number of sources associating them with TAPBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional characterization of a subunit of the transporter associated with antigen processing. (PubMed id 9238042)1, 2, 3, 9 Li S.... Wang P. (1997)
    2. Identification of novel Tapasin polymorphisms and linkage disequilibrium to MHC class I alleles. (PubMed id 11132161)1, 4, 9 Williams A.P....Elliott T. (2000)
    3. Tapasin is required for efficient peptide binding to transporter associated with antigen processing. (PubMed id 10636848)1, 2, 9 Li S.... Wang P. (2000)
    4. The N-terminal region of tapasin is required to stabilize the MHC class I loading complex. (PubMed id 10382748)1, 2, 9 Bangia N.... Cresswell P. (1999)
    5. Generation of a functional, soluble tapasin protein from an alternatively spliced mRNA. (PubMed id 14668790)1, 2, 9 Gao B.... Elliott T. (2004)
    6. Granulocyte-macrophage colony-stimulating factor modulates tapasin expression in human neutrophils. (PubMed id 10088603)1, 2, 9 El Ouakfaoui S.... Beaulieu A.D. (1999)
    7. A critical role for tapasin in the assembly and function of multimeric MHC class I-TAP complexes. (PubMed id 9271576)1, 2, 9 Ortmann B....Cresswell P. (1997)
    8. Polymorphism of TAPASIN and its linkage disequilibria with HLA class II genes in the Japanese population. (PubMed id 9802609)1, 2, 9 Furukawa H.... Juji T. (1998)
    9. Transporter associated with antigen processing and the chaperone tapasin: are non-classical HLA genes keys to the pathogenesis of schizophrenia? (PubMed id 19217216)1, 4, 9 Fellerhoff B. and Wank R. (2009)
    10. Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study. (PubMed id 15743475)1, 4, 9 Bukulmez H....Colbert R.A. (2005)

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

      Query String
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    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: 6892 HGNC: 11566 AceView: TAPBP Ensembl:ENSG00000231925 euGenes: HUgn6892
    ECgene: TAPBP Kegg: 6892 H-InvDB: TAPBP

    (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 TAPBP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TAPBP Genetics and Cytogenetics in Oncology and Haematology
    TAPBPbasehttp://bioinf.uta.fi/TAPBPbase/

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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