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TAP1 Gene

protein-coding   GIFtS: 71
GCID: GC06M032812

Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP)


(Previous symbol: ABCB2)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP)1 2     ATP-Binding Cassette Sub-Family B Member 22 3
ABCB21 2 3 5     ABC172
PSF12 3 5     D6S114E2
RING42 3 5     TAP1*0102N2
Peptide Supply Factor 12 3     TAP1N2
Peptide Transporter Involved In Antigen Processing 12 3     ABC Transporter, MHC 12
Peptide Transporter PSF12 3     Antigen Peptide Transporter 12
Peptide Transporter TAP12 3     ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 22
Really Interesting New Gene 4 Protein2 3     Transporter Associated With Antigen Processing2
APT12 3     Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 12
PSF-12 3     Y33

External Ids:    HGNC: 431   Entrez Gene: 68902   Ensembl: ENSG000001683947   OMIM: 1702605   UniProtKB: Q035183   

Export aliases for TAP1 gene to outside databases

Previous GC identifers: GC06U990120 GC06M032810 GC06M032583 GC06M032859 GC06M032920


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TAP1 Gene:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC)
transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are
divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member
of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein
encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum
into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated
with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. (provided by RefSeq, Jul
2008)

GeneCards Summary for TAP1 Gene:
TAP1 (transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)) is a protein-coding gene. Diseases associated with TAP1 include ankylosing spondylitis, and spondylitis. GO annotations related to this gene include ADP binding and protein homodimerization activity. An important paralog of this gene is TAP2.

UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518
Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association
with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely
the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent
attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by
human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide
translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP
induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and
acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by
human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic
reticulum and subsequent peptide loading by MHC class I molecules

Gene Wiki entry for TAP1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167246.2  NT_167247.2  
NT_167248.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TAP1 gene promoter:
         AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): TAP1 promoter sequence
   Search Chromatin IP Primers for TAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TAP1


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

TAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAP1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032812:  view genomic region     (about GC identifiers)

Start:
32,812,986 bp from pter      End:
32,821,755 bp from pter
Size:
8,770 bases      Orientation:
minus strand

Selected alternative locations (see all 7):
Chr6-,NT_167247 4,149,863-4,158,625      Chr6-,NT_167248 4,045,093-4,053,855      Chr6-,NT_167249 4,243,759-4,252,521     
Chr6-,NT_167245 4,094,364-4,103,126      Chr6-,NT_167244 4,099,990-4,108,752      Chr6-,NT_167246 4,270,182-4,278,944     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518 (See protein sequence)
Recommended Name: Antigen peptide transporter 1  
Size: 808 amino acids; 87218 Da
Subunit: Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BNLF2a. Interacts with PSMB5 and PSMB8
Caution: It is uncertain whether Met-1 or Met-61 is the initiator
Sequence caution: Sequence=CAA47025.1; Type=Erroneous initiation; Sequence=CAA60785.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for TAP1:
1JJ7 (3D)    
Secondary accessions: Q16149 Q96CP4

Explore the universe of human proteins at neXtProt for TAP1: NX_Q03518

Explore proteomics data for TAP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys449
  • Modification sites at PhosphoSitePlus

  • See TAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000584.2  
    ENSEMBL proteins: 
     ENSP00000346206   ENSP00000401919  
    Reactome Protein details: Q03518

    TAP1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals TAP1 Proteins
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TAP1

    TAP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TAP1
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    Abcam antibodies for TAP1
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    ThermoFisher Antibodies for TAP1
    LSBio Antibodies in human, mouse, rat for TAP1

    TAP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TAP1
    Cloud-Clone Corp. CLIAs for TAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCB: ATP binding cassette transporters / subfamily B

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB2
    ABCB subfamily

    Selected InterPro protein domains (see all 8):
     IPR003439 ABC_transporter-like
     IPR005293 Ag_transporter2
     IPR013305 ABC_B2
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom

    Graphical View of Domain Structure for InterPro Entry Q03518

    ProtoNet protein and cluster: Q03518

    UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518
    Domain: The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    TAP1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TAP1_HUMAN, Q03518
    Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association
    with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely
    the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent
    attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by
    human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide
    translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP
    induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and
    acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by
    human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic
    reticulum and subsequent peptide loading by MHC class I molecules
    Induction: By IFNG/IFN-gamma

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity ----
    GO:0005515protein binding IPI12213826
    GO:0005524ATP binding IDA11133832
    GO:0015197peptide transporter activity IMP17418234
         
    TAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TAP1:
     Upregulation of Wnt/beta-caten 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tap1):
     hematopoietic system  immune system  integument  mortality/aging  nervous system 
     tumorigenesis 

    TAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TAP1: Tap1tm1Arp Tap1tm1Hpl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TAP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TAP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TAP1:
    hsa-mir-346 (MIRT006669)

    Block miRNA regulation of human, mouse, rat TAP1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate TAP1:
    hsa-miR-21* hsa-miR-532-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidTAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TAP1
    Predesigned siRNA for gene silencing in human, mouse, rat TAP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TAP1

    Clone
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    OriGene clones in human, mouse for TAP1 (see all 8)
    OriGene ORF clones in mouse, rat for TAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TAP1 (NM_000593)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAP1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TAP1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TAP1_HUMAN, Q03518: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments
    seem to form a pore in the membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    plasma membrane3
    cytoskeleton2
    extracellular2
    mitochondrion2
    nucleus2
    endosome1
    golgi apparatus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743NOT mitochondrial inner membrane IRD--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol NAS11133832
    GO:0005886plasma membrane IBA--

    TAP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TAP1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.80
    Immune response Antigen presentation by MHC class I0.68
    Antigen processing-Cross presentation0.80
    2Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    3ABC-family proteins mediated transport
    ABC transporters0.69
    4Allograft rejection
    Antigen processing and presentation0.36
    5Influenza A
    Herpes simplex infection0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TAP1
        Lymphocyte Signaling

    2 GeneGo (Thomson Reuters) Pathways for TAP1
        Immune response Antigen presentation by MHC class I
    Development Thrombopoetin signaling via JAK-STAT pathway

    2 BioSystems Pathways for TAP1
        Type II interferon signaling (IFNG)
    Direct p53 effectors

    2 Reactome Pathways for TAP1
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    ER-Phagosome pathway


    5 Kegg Pathways  (Kegg details for TAP1):
        ABC transporters
    Phagosome
    Antigen processing and presentation
    Herpes simplex infection
    Primary immunodeficiency


    TAP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TAP1: 
              Type I Interferon Response in human mouse rat
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TAP1 (Q035181, 2, 3 ENSP000003462064) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206299Q035191, 2, 3, ENSP000003727264EBI-747259,EBI-780781 MINT-2838330 I2D: score=5 STRING: ENSP00000372726
    ENSG00000223481Q035191, 2, 3EBI-747259,EBI-780781 MINT-2838330 I2D: score=5 
    ENSG00000225967Q035191, 2, 3EBI-747259,EBI-780781 MINT-2838330 I2D: score=5 
    ENSG00000228582Q035191, 2, 3EBI-747259,EBI-780781 MINT-2838330 I2D: score=5 
    ENSG00000232326Q035191, 2, 3EBI-747259,EBI-780781 MINT-2838330 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IBA--
    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:0006810transport ----
    GO:0006952defense response IEA--

    TAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TAP1

    1 HMDB Compound for TAP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    2 DrugBank Compounds for TAP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LapatinibFMM (see all 5)388082-78-8transporterinhibitor18829547
    Adenosine-5'-Diphosphate-- 20398-34-9target----

    8 Novoseek inferred chemical compound relationships for TAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ifn-alpha 26.9 1 15207616 (1)
    valine 22.9 2 9271826 (1), 19721454 (1)
    mitoxantrone 18.7 3 11513878 (2), 17523305 (1)
    atp 8.42 12 11157746 (3), 12217520 (1), 15900495 (1), 11416206 (1) (see all 6)
    alanine 0.256 2 12517960 (1), 15900495 (1)
    oligonucleotide 0 2 11775239 (1), 9027960 (1)
    glutamate 0 2 12517960 (1), 15760893 (1)
    glutamine 0 1 15900495 (1)



    TAP1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TAP1 gene: 
    NM_000593.5  

    Unigene Cluster for TAP1:

    Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
    Hs.352018  [show with all ESTs]
    Unigene Representative Sequence: BC001849
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486332 ENST00000354258(uc003ocg.3) ENST00000487296 ENST00000425148(uc011dqi.2)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate TAP1:
    hsa-miR-21* hsa-miR-532-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidTAP1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TAP1 (NM_000593)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TAP1
      QuantiFast Probe-based Assays in human, mouse, rat TAP1

    Additional mRNA sequence: 

    AB012644.1 AK123494.1 AK130176.1 AK302340.1 AK313762.1 AY523970.1 AY523971.2 BC001849.1 
    BC014081.2 BX648013.1 L21204.1 L21205.1 L21206.1 L21207.1 L21208.1 S70266.1 
    X57521.1 X57522.1 

    19 DOTS entries:

    DT.97848033  DT.121353423  DT.100710765  DT.97861334  DT.100889868  DT.70100916  DT.98083166  DT.121353411 
    DT.100889871  DT.100889883  DT.92030517  DT.95261987  DT.121353477  DT.97848102  DT.121353435  DT.448230 
    DT.92450191  DT.92450201  DT.95149859 

    Selected AceView cDNA sequences (see all 385):

    CA309006 BQ573947 BM555378 CR596099 BM840943 AH007356 BC014081 BM708039 
    BQ641666 AW295947 H88388 CD365018 F04651 BQ685028 BM693716 BQ053232 
    BU501772 BQ927571 CA310298 C01588 AK130176 BM670858 BF757476 BU170375 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TAP1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:                                      -                 -                             -                       -                     
    SP2:                                                                                -     -     -                 -                     
    SP3:                                                                                      -                       -                     
    SP4:                                      -     -           -                                                                           
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for TAP1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TAP1 expression in normal human tissues (normalized intensities)      TAP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCAGGCTC
    TAP1 Expression
    About this image


    TAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    TAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352018
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TAP1: 
              Type I Interferon Response in human mouse rat
              Drug Transporters in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TAP1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tap11 , 5 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)1, 5 79.31(n)1
    73.19(a)1
      17 (17.98 cM)5
    213541  NM_013683.21  NP_038711.21 
     341875535 
    chicken
    (Gallus gallus)
    Aves TAP11 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 59.99(n)
    50.64(a)
      427727  NM_001135968.1  NP_001129440.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 5)
    Uncharacterized protein
    (see all 5)
    56(a)
    54(a)
    (see all 5)
    1 ↔ many
    1 ↔ many
    (see all 5)
    GL344125.1(75533-82292)
    GL344452.1(21-12131)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY204551.12   -- 69.22(n)    AY204551.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tap11 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 59.01(n)
    53.36(a)
      100333043  XM_002665007.1  XP_002665053.1 
    worm
    (Caenorhabditis elegans)
    Secernentea haf-86
    haf-96
    (see all 5)
    Protein HAF-8 (haf-8) mRNA, complete cds
    Protein HAF-9, isoform b (haf-9) mRNA, complete cd...
    (see all 5)
    29(a)
    29(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(14694032-14699940) WBGene00001818
    I(6081782-6085962) WBGene00001819
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDL16
    MDL26
    Mitochondrial inner membrane half-type ATP-binding...
    Mitochondrial inner membrane half-type ATP-binding...
    25(a)
    25(a)
    many ↔ many
    many ↔ many
    XII(528300-530387) YLR188W
    XVI(30482-32803) YPL270W


    ENSEMBL Gene Tree for TAP1 (if available)
    TreeFam Gene Tree for TAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TAP1 gene
    TAP22  ABCB102  ENSG000002502642  ABCB82  ABCB92  
    Selected SIMAP similar genes for TAP1 using alignment to 12 protein entries:     TAP1_HUMAN (see all proteins) (see all similar genes):
    TAP1*0102N    ABCB5    ABCB6    ABCC2    ABCC4    ABCC1
    DKFZp781G125    MRP3    ABCB4    ABCB1    ABCB7    ABCB9
    ABCB11    ABCC8    ABCC6    ABCB8    TAP2-G    ABCC3

    TAP1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TAP1_HUMAN, Q03518: There are five common alleles; TAP1*01:01 (PSF1A), TAP1*02:01 (PSF1B), TAP1*03:01 (PSF1C),
    TAP1*01:04 and TAP1*x. The sequence of TAP1*01:01 is shown here


    Selected SNPs for TAP1 (see all 414)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219177021,2,,4
    C,FA lung cancer cell line deficient in MHC class I presentation4 other132731045(-) GATCCG/AGAAAC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5865
    rs11352161,2,,4
    C,F,Hnon-pathogenic132731111(-) GGTAGA/GCGAGG 2 D G mis146Minor allele frequency- N:0.00NA EA NS MN WA CSA EU 11963
    rs10571411,2,,4
    C,F,Hnon-pathogenic132734908(-) CCCTGA/GTCACC 2 I V mis152Minor allele frequency- G:0.20MN EA NA NS WA CSA EU 12312
    rs1379969921,2
    C--32561908(+) GAGAG-/GAACAGA 1 -- int10--------
    rs92823171,2
    C--32561927(+) AGAGA-/GACAGAG 1 -- int10--------
    rs1831968501,2
    --32728655(+) CTGTCA/GACGTC 1 -- ds50010--------
    rs20714631,2
    C,F,O,A,H--32728664(-) AGGTCG/ATGTGA 1 -- ds500124Minor allele frequency- A:0.29EA NA MN NS WA 3756
    rs1879309161,2
    --32728690(+) GGAGAC/TATTTA 1 -- ds50010--------
    rs117568461,2
    C,H--32728716(+) TACTGT/CTCTGA 1 -- ds50014Minor allele frequency- C:0.00NS EA 418
    rs21276731,2
    C,H--32728718(-) CCTCAG/AAACAG 1 -- ds50014Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for TAP1 (32812986 - 32821755 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830633CNV Loss17160897

    Human Gene Mutation Database (HGMD): TAP1
    Locus Specific Mutation Databases (LSDB): TAP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TAP1

    (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.)
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    OMIM gene information: 170260   
    OMIM disorders: 604571  
    UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518
  • Bare lymphocyte syndrome 1 (BLS1) [MIM:604571]: A HLA class I deficiency. Contrary to bare lymphocyte
    syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I
    antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life.
    Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of
    life, are restricted to the respiratory tract. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for TAP1 (see all 105):    About MalaCards
    ankylosing spondylitis    spondylitis    posterior uveal melanoma    echinococcosis
    wegener-like granulomatosis    recurrent respiratory papillomatosis    cardiac sarcoidosis    mhc class i deficiency
    orbital melanoma    capillary hemangioma    alveolar echinococcosis    cystic echinococcosis
    bare lymphocyte syndrome    brucellosis    celiac disease    perineurioma
    west nile virus    reactive arthritis    juvenile myoclonic epilepsy    diabetes mellitus

    5 diseases from the University of Copenhagen DISEASES database for TAP1:
    Schizophrenia     Hyperuricemia     Capillary hemangioma     Perineurioma
    Carcinoma

    TAP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for TAP1 gene (see all 51)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hla class i deficiency 73.9 1 10074495 (1)
    diabetes mellitus insulin-dependent 47.6 7 9458110 (2), 9599304 (1), 1570316 (1), 1300236 (1) (see all 6)
    cervical carcinoma 44.3 14 8270878 (2), 11713591 (2), 17382375 (2), 19263211 (1) (see all 9)
    melanoma 40.4 28 12777979 (5), 11241306 (3), 17278102 (2), 17999701 (2) (see all 11)
    tumors 38.7 52 9426698 (4), 11340574 (3), 8803612 (3), 17278102 (3) (see all 24)
    genetic susceptibility 38.6 2 17982230 (1), 9844767 (1)
    autoimmune diseases 36.9 1 8635653 (1)
    allelic loss 30.9 1 18408926 (1)
    cervical cancer 29.8 9 18650831 (3), 19263211 (2), 18248301 (1), 8198988 (1) (see all 5)
    spondylitis ankylosing 28.6 4 8770637 (2), 1570316 (1), 11096258 (1)

    Genetic Association Database (GAD): TAP1
    Human Genome Epidemiology (HuGE) Navigator: TAP1 (96 documents)

    Export disorders for TAP1 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)
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    PubMed articles for TAP1 gene, integrated from 10 sources (see all 406):
    (articles sorted by number of sources associating them with TAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PubMed id 1946428)1, 2, 3, 9 Bahram S.... Spies T. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. Novel TAP1 polymorphisms in indigenous Zimbabweans: their potential implications on TAP function and in human diseases. (PubMed id 12878362)1, 2, 4 Lajoie J.... Roger M. (Hum. Immunol. 2003)
    3. TAP1 polymorphisms in several human ethnic groups: characteristics, evolution, and genotyping strategies. (PubMed id 11250043)1, 2, 4 Tang J.... Kaslow R.A. (Hum. Immunol. 2001)
    4. TAP1 gene AccI polymorphism is associated with atopic bronchial asthma. (PubMed id 12640628)1, 4, 9 Hang L.W....Tsai F.J. (J. Clin. Lab. Anal. 2003)
    5. No association of TAP1 and TAP2 genes polymorphism with risk of cervical cancer in north Indian population. (PubMed id 19263211)1, 4, 9 Kordi Tamandani D.M....Suri V. (J. Assist. Reprod. Genet. 2009)
    6. Determination of TAP1 and TAP2 polymorphism in the Chinese Han population by real-time TaqMan polymerase chain reaction. (PubMed id 18764808)1, 4, 9 Feng M.L....Liu D.Z. (Tissue Antigens 2008)
    7. TAP1 gene polymorphisms and nasopharyngeal carcinoma risk in a Tunisian population. (PubMed id 17498556)1, 4, 9 Hassen E....Chouchane L. (Cancer Genet. Cytogenet. 2007)
    8. TAP1 and TAP2 gene polymorphisms in Korean patients with allergic rhinitis. (PubMed id 17982230)1, 4, 9 Kim K.R....Tae K. (J. Korean Med. Sci. 2007)
    9. TAP1 and TAP2 polymorphisms and their linkage disequilibrium with HLA-DR, -DP, and -DQ in an eastern Andalusian population. (PubMed id 16216677)1, 4, 9 Alvarado-Guerri R....LA^pez-Nevot M.A. (Hum. Immunol. 2005)
    10. TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (PubMed id 12634240)1, 4, 9 Correa P.A....Anaya J.M. (Ann. Rheum. Dis. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 6890 HGNC: 43 AceView: TAP1 Ensembl:ENSG00000168394 euGenes: HUgn6890
    ECgene: TAP1 Kegg: 6890 H-InvDB: TAP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TAP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TAP1 Genetics and Cytogenetics in Oncology and Haematology
    TAP1basehttp://bioinf.uta.fi/TAP1base/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03518

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TAP1 gene:
    Search GeneIP for patents involving TAP1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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