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    TAPBP TAP binding protein [ Homo sapiens (human) ]

    Gene ID: 6892, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TAPBPprovided by HGNC
    Official Full Name
    TAP binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:11566
    See related
    Ensembl:ENSG00000231925 MIM:601962; AllianceGenome:HGNC:11566
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TPN; TAPA; TPSN; NGS17; MHC1D3
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 38.1), appendix (RPKM 25.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAPBP in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33299694..33314078, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33121056..33135440, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33267471..33281855, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 46 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33255009-33255542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33255543-33256076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33256611-33257144 Neighboring gene microRNA 6873 Neighboring gene microRNA 6834 Neighboring gene prefoldin subunit 6 Neighboring gene ral guanine nucleotide dissociation stimulator like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33265070-33265597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33265684-33266184 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33266952-33267130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33267887-33268394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33268395-33268900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33282409-33283068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33283069-33283726 Neighboring gene zinc finger and BTB domain containing 22 Neighboring gene uncharacterized LOC124901303 Neighboring gene death domain associated protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mechanisms of function of tapasin, a critical major histocompatibility complex class I assembly factor. Rizvi SM, et al. Traffic, 2010 Mar. PMID 20070606, Free PMC Article
    2. A characterization of the lumenal region of human tapasin reveals the presence of two structural domains. Chen M, et al. Biochemistry, 2002 Dec 10. PMID 12463753
    3. Downregulation of tapasin expression in progressive human malignant melanoma. Dissemond J, et al. Arch Dermatol Res, 2003 Jun. PMID 12682852
    4. Association of tapasin and HLA class I antigen down-regulation in primary maxillary sinus squamous cell carcinoma lesions with reduced survival of patients. Ogino T, et al. Clin Cancer Res, 2003 Sep 15. PMID 14519625
    5. Tapasin is a facilitator, not an editor, of class I MHC peptide binding. Zarling AL, et al. J Immunol, 2003 Nov 15. PMID 14607930

    See all (126) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A genetic variant in the TAPBP gene enhances cervical cancer susceptibility by increasing m[6]A modification.
      Title: A genetic variant in the TAPBP gene enhances cervical cancer susceptibility by increasing m(6)A modification.
    2. Identification of RNA-binding protein hnRNP C targeting the 3'UTR of the TAP-associated glycoprotein tapasin in melanoma.
      Title: Identification of RNA-binding protein hnRNP C targeting the 3'UTR of the TAP-associated glycoprotein tapasin in melanoma.
    3. The downregulation of Tapasin in dendritic cell regulates CD8[+] T cell autophagy to hamper hepatitis B viral clearance in the induced pluripotent stem cell-derived hepatocyte organoid.
      Title: The downregulation of Tapasin in dendritic cell regulates CD8(+) T cell autophagy to hamper hepatitis B viral clearance in the induced pluripotent stem cell-derived hepatocyte organoid.
    4. Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner.
      Title: Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner.
    5. The role of MHC I protein dynamics in tapasin and TAPBPR-assisted immunopeptidome editing.
      Title: The role of MHC I protein dynamics in tapasin and TAPBPR-assisted immunopeptidome editing.
    6. Exchange catalysis by tapasin exploits conserved and allele-specific features of MHC-I molecules.
      Title: Exchange catalysis by tapasin exploits conserved and allele-specific features of MHC-I molecules.
    7. HLA tapasin independence: broader peptide repertoire and HIV control.
      Title: HLA tapasin independence: broader peptide repertoire and HIV control.
    8. Atomistic structure and dynamics of the human MHC-I peptide-loading complex.
      Title: Atomistic structure and dynamics of the human MHC-I peptide-loading complex.
    9. The results demonstrated that the mRNA expression levels of tapasin were significantly downregulated in patients with chronic hepatitis B (CHB) compared with in healthy controls and patients with acute hepatitis B Furthermore, the apoptotic rate of CD8+ T cells was increased in patients with CHB compared with in the other two groups.
      Title: Correlation between low tapasin expression and impaired CD8+ T‑cell function in patients with chronic hepatitis B.
    10. The disruption of TAP1 and TAPBP generates pluripotent embryonic stem cells with reduced immunogenicity.
      Title: Generating hESCs with reduced immunogenicity by disrupting TAP1 or TAPBP.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    MHC class I deficiency
    MedGen: C1858266 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TAPBP; predicted interaction to be involved in antigenicity/immunity PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC class I protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables MHC class I protein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables TAP complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables TAP complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables TAP1 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables TAP1 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables TAP1 binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables TAP2 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables TAP2 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables TAP2 binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide antigen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein folding chaperone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables unfolded protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in MHC class Ib protein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptide antigen assembly with MHC class I protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptide antigen assembly with MHC class I protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide antigen stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein complex stability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MHC class I peptide loading complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MHC class I peptide loading complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MHC class I peptide loading complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of Tapasin-ERp57 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tapasin
    Names
    NGS-17
    TAP binding protein (tapasin)
    TAP-associated protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009876.1 RefSeqGene

      Range
      4826..19519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_114

    mRNA and Protein(s)

    1. NM_001410875.1 → NP_001397804.1  tapasin isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL662820
      Consensus CDS
      CCDS93889.1
      UniProtKB/TrEMBL
      A0A8V8TQC5
      Related
      ENSP00000514506.1, ENST00000699657.1

    2. NM_003190.5 → NP_003181.3  tapasin isoform 1 precursor

      See identical proteins and their annotated locations for NP_003181.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AB010639, AF029750, AL662820
      Consensus CDS
      CCDS34426.1
      UniProtKB/Swiss-Prot
      A2AB91, A2ABC0, B0V003, B0V0A6, B2ZUA4, E9PGM2, O15210, O15272, O15533, Q5STJ8, Q5STK6, Q5STQ5, Q5STQ6, Q66K65, Q96KK7, Q9HAN8, Q9UEE0, Q9UEE4, Q9UIZ6, Q9Y6K2
      UniProtKB/TrEMBL
      A0A024RCT1, A0A0G2JKZ1
      Related
      ENSP00000395701.2, ENST00000434618.7
      Conserved Domains (1) summary
      cl11960
      Location:260 → 391
      Ig; Immunoglobulin domain

    3. NM_172208.3 → NP_757345.2  tapasin isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AL662820, AU117273, AW028178, BC080574
      Consensus CDS
      CCDS34428.2
      UniProtKB/TrEMBL
      A0A0A0MSV9, A0A0G2JKZ1
      Related
      ENSP00000404833.2, ENST00000426633.6
      Conserved Domains (1) summary
      cl11960
      Location:255 → 391
      Ig; Immunoglobulin domain

    4. NM_172209.3 → NP_757346.2  tapasin isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AF029750, AL662820, AU117273, EU693375
      Consensus CDS
      CCDS34427.2
      UniProtKB/TrEMBL
      A0A0A0MT98, A0A0G2JKZ1
      Related
      ENSP00000419659.1, ENST00000489157.6
      Conserved Domains (1) summary
      cl11960
      Location:168 → 304
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      33299694..33314078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419272.1 → XP_047275228.1  tapasin isoform X3

    2. XM_047419271.1 → XP_047275227.1  tapasin isoform X2

    3. XM_011514828.4 → XP_011513130.1  tapasin isoform X1

      See identical proteins and their annotated locations for XP_011513130.1

      UniProtKB/TrEMBL
      A0A0G2JKZ1
      Conserved Domains (1) summary
      cl11960
      Location:255 → 391
      Ig; Immunoglobulin domain

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4711179..4725561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329858.1 → XP_054185833.1  tapasin isoform X3

    2. XM_054329857.1 → XP_054185832.1  tapasin isoform X2

    3. XM_054329856.1 → XP_054185831.1  tapasin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      4543212..4557593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330341.1 → XP_054186316.1  tapasin isoform X3

    2. XM_054330340.1 → XP_054186315.1  tapasin isoform X2

    3. XM_054330339.1 → XP_054186314.1  tapasin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      4735630..4750012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330857.1 → XP_054186832.1  tapasin isoform X3

    2. XM_054330856.1 → XP_054186831.1  tapasin isoform X2

    3. XM_054330855.1 → XP_054186830.1  tapasin isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      4494115..4508505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331118.1 → XP_054187093.1  tapasin isoform X2

    2. XM_054331117.1 → XP_054187092.1  tapasin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      33121056..33135440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356273.1 → XP_054212248.1  tapasin isoform X3

    2. XM_054356272.1 → XP_054212247.1  tapasin isoform X2

    3. XM_054356271.1 → XP_054212246.1  tapasin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15533.2 GenPept UniProtKB/Swiss-Prot:O15533

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