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TAPBPL Gene

protein-coding   GIFtS: 50
GCID: GC12P006561

TAP Binding Protein-Like

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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
TAP Binding Protein-Like1 2     TAPBPR2 5
TAPASIN-R2 3     TAP Binding Protein Related2
TAPBP-R2 3     tapasin-like2
TAP-Binding Protein-Like2 3     Tapasin-Related Protein2
TAP-Binding Protein-Related Protein2 3     Tapasin-like3

External Ids:    HGNC: 306831   Entrez Gene: 550802   Ensembl: ENSG000001391927   OMIM: 6070815   UniProtKB: Q9BX593   

Export aliases for TAPBPL gene to outside databases

Previous GC identifers: GC12P006432 GC12P006434


(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 TAPBPL Gene:
Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major
histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP;
see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome
6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat
paralogous to the MHC.(supplied by OMIM, Mar 2008)

GeneCards Summary for TAPBPL Gene:
TAPBPL (TAP binding protein-like) is a protein-coding gene. Diseases associated with TAPBPL include esophageal cancer, and esophagitis. An important paralog of this gene is TAPBP.




(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_000012.12  NT_009759.17  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TAPBPL gene promoter:
         GR   AML1a   AP-1   p53   GR-beta   HSF1 (long)   HSF1short   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTAPBPL promoter sequence
   Search Chromatin IP Primers for TAPBPL

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


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

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P006561:  view genomic region     (about GC identifiers)

Start:
6,560,856 bp from pter      End:
6,575,683 bp from pter
Size:
14,828 bases      Orientation:
plus strand

(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: TPSNR_HUMAN, Q9BX59 (See protein sequence)
Recommended Name: Tapasin-related protein precursor  
Size: 468 amino acids; 50183 Da
Secondary accessions: Q9NWB8

Explore the universe of human proteins at neXtProt for TAPBPL: NX_Q9BX59

Explore proteomics data for TAPBPL at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr254
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_060479.3  
    ENSEMBL proteins: 
     ENSP00000445341   ENSP00000266556  

    TAPBPL Human Recombinant Protein Products:

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

    Selected InterPro protein domains (see all 6):
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS
     IPR003599 Ig_sub
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set

    Graphical View of Domain Structure for InterPro Entry Q9BX59

    ProtoNet protein and cluster: Q9BX59

    2 Blocks protein domains:
    IPB003597 Immunoglobulin C-type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: TPSNR_HUMAN, Q9BX59
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    TAPBPL 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TAPBPL for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-3910 hsa-miR-3685 hsa-miR-630
    SwitchGear 3'UTR luciferase reporter plasmidTAPBPL 3' UTR sequence
    Inhib. RNA
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    (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
    TPSNR_HUMAN, Q9BX59: Cell membrane; Single-pass type I membrane protein (Probable). Endoplasmic reticulum
    membrane; Single-pass type I membrane protein (Probable). Microsome membrane; Single-pass type I membrane protein
    (Probable). Note=Mainly found in endoplasmic reticulum but a minority is found on the cell surface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    extracellular2
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    TAPBPL 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TAPBPL
    Interactions:

        Search GeneGlobe Interaction Network for TAPBPL

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

    Selected Interacting proteins for TAPBPL (ENSP000002665564) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PVRL4ENSP000003569914STRING: ENSP00000356991
    AMICA1ENSP000003486354STRING: ENSP00000348635
    IGHEENSP000003749834STRING: ENSP00000374983
    CXADRENSP000002848784STRING: ENSP00000284878
    LYZENSP000002612674STRING: ENSP00000261267
    About this table

    (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 TAPBPL (TPSNR)



    (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 TAPBPL gene: 
    NM_018009.4  

    Unigene Cluster for TAPBPL:

    TAP binding protein-like
    Hs.504597  [show with all ESTs]
    Unigene Representative Sequence: AK098035
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539384 ENST00000544826 ENST00000544021 ENST00000266556(uc001qog.4)
    ENST00000545700(uc001qoi.1) ENST00000543567 ENST00000542160 ENST00000544289


    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate TAPBPL:
    hsa-miR-3910 hsa-miR-3685 hsa-miR-630
    SwitchGear 3'UTR luciferase reporter plasmidTAPBPL 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: TAPBPL (NM_018009)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TAPBPL
      QuantiFast Probe-based Assays in human, mouse, rat TAPBPL

    Additional mRNA sequence: 

    AK001005.1 AK002056.2 AK098035.1 AK222956.1 AK223163.1 BC015017.2 

    22 DOTS entries:

    DT.92438464  DT.97862728  DT.100642876  DT.121214676  DT.121214743  DT.95334218  DT.100640107  DT.121214734 
    DT.317661  DT.95334214  DT.95170259  DT.121214753  DT.40312062  DT.95334217  DT.121214669  DT.92017844 
    DT.95334167  DT.100772134  DT.91686927  DT.92438467  DT.92438468  DT.95334215 

    9 AceView cDNA sequences:

    CR604472 CR622967 CR598232 CR594087 AK001005 AK098035 AK002056 NM_018009 
    BC015017 

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

    TAPBPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TAPBPL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504597
        Custom PCR Arrays for TAPBPL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAPBPL

    (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 chordates.

    Orthologs for TAPBPL gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tapbpl1 , 5 TAP binding protein-like1, 5 78.04(n)1
    70.53(a)1
      6 (59.32 cM)5
    2132331  NM_145391.21  NP_663366.21 
     1252239335 
    chicken
    (Gallus gallus)
    Aves TAPBPL1 TAP binding protein-like 57.82(n)
    45.66(a)
      426340  NM_001031372.2  NP_001026543.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tapbpl1 TAP binding protein-like 49.39(n)
    37.17(a)
      101730729  XM_004915760.1  XP_004915817.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001508891 tapasin-related protein-like 51.3(n)
    42.59(a)
      100150889  XM_001919950.2  XP_001919985.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TAPBPL gene
    TAPBP2  

    TAPBPL 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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    Selected SNPs for TAPBPL (see all 210)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs25325011,2
    C,F,A,H--6562753(-) CTGCAC/TGTTGG 2 M V mis1 ese333Minor allele frequency- T:0.34NS EA NA WA CSA EU 8656
    rs72953761,2,,4
    C,F,H--6562768(+) CTGGAG/CGGGGA 2 /R /G mis19Minor allele frequency- C:0.03NS EA NA WA EU 6531
    rs25325001,2
    C,F,A,H--6562810(-) CTTGGC/TGACCC 2 T A mis1 ese324Minor allele frequency- T:0.35NS EA NA WA CSA EU 6879
    rs20413871,2
    C,F,O,A,H--6562823(+) TGAGGC/TGCTCT 2 A V mis125Minor allele frequency- N:0.00NS EA NA WA EU 8417
    rs20413881,2
    C,F,O,A,H--6562836(+) CACCCG/AACGCT 2 /P syn119Minor allele frequency- A:0.20NS EA NA EU 7278
    rs2017746381,2
    --6562850(+) CTTGCC/GACTGA 2 P R mis10--------
    rs1483117971,2
    C--6562899(+) AAAAGC/TAAGGC 1 -- int11Minor allele frequency- T:0.00EU 849
    rs25346981,2
    C,F,A--6562931(+) GTAATC/TCCAGA 1 -- int110Minor allele frequency- T:0.30NA WA CSA EA 255
    rs1871348591,2
    --6563037(+) TTAGCC/TGGGCA 1 -- int10--------
    rs1426705091,2
    C--6563123(+) TTGCG-/GTGAGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TAPBPL (6560856 - 6575683 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TAPBPL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525022CNV Gain19592680
    nsv8894CNV Gain18304495
    esv34390CNV Gain17911159
    esv34325CNV Gain17911159
    nsv818881CNV Gain17921354
    essv12131CNV CNV17122850
    nsv442252CNV CNV18776908
    dgv453e1CNV Complex17122850

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607081    OMIM disorders: --

    3 diseases for TAPBPL:    
    About MalaCards
    esophageal cancer    esophagitis    alzheimer's disease


    TAPBPL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): TAPBPL
    Human Genome Epidemiology (HuGE) Navigator: TAPBPL (4 documents)

    Export disorders for TAPBPL 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 TAPBPL gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with TAPBPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human TAPBP (TAPASIN)-related gene, TAPBP-R. (PubMed id 11920573)1, 2, 3, 9 Teng M.S....Trowsdale J. (Eur. J. Immunol. 2002)
    2. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    4. Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. (PubMed id 18340469)1, 4 Lee J.H....Mayeux R. (Neurogenetics 2008)
    5. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    8. Tapasin-related protein TAPBPR is an additional component of the MHC class I presentation pathway. (PubMed id 23401559)1 Boyle L.H....Trowsdale J. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    9. The binding of TAPBPR and Tapasin to MHC class I is mutually exclusive. (PubMed id 24163410)1 Hermann C....Boyle L.H. (J. Immunol. 2013)
    10. Association of defective HLA-I expression with antigen processing machinery and their association with clinicopathological characteristics in Kazak patients with esophageal cancer. (PubMed id 21362330)1 Ayshamgul H....Abulizi A. (Chin. Med. J. 2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55080 HGNC: 30683 AceView: TAPBPL Ensembl:ENSG00000139192 euGenes: HUgn55080
    ECgene: TAPBPL H-InvDB: TAPBPL

    (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 TAPBPL Pharmacogenomics, SNPs, Pathways

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

    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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