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    TAPBPL TAP binding protein like [ Homo sapiens (human) ]

    Gene ID: 55080, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TAPBPLprovided by HGNC
    Official Full Name
    TAP binding protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:30683
    See related
    Ensembl:ENSG00000139192 MIM:607081; AllianceGenome:HGNC:30683
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAPBPR; TAPBP-R
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 8.1), small intestine (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAPBPL in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6451649..6472006)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6462036..6482343)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6560815..6571482)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:6543574-6544074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4162 Neighboring gene CD27 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5855 Neighboring gene SRP14 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6554257-6554758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5861 Neighboring gene CD27 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4163 Neighboring gene vesicle associated membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4165 Neighboring gene plakophilin 2 pseudogene 1 Neighboring gene mitochondrial ribosomal protein L51

    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
    • 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. Get into the groove! The influence of TAPBPR on cargo selection. Satti R, et al. Curr Opin Immunol, 2023 Aug. PMID 37295041
    2. TAPBPR isoforms exhibit altered association with MHC class I. Porter KM, et al. Immunology, 2014 Jun. PMID 24444341, Free PMC Article
    3. TAPBPR: a new player in the MHC class I presentation pathway. Hermann C, et al. Tissue Antigens, 2015 Mar. PMID 25720504
    4. Crystal structure of a TAPBPR-MHC I complex reveals the mechanism of peptide editing in antigen presentation. Jiang J, et al. Science, 2017 Nov 24. PMID 29025991, Free PMC Article
    5. Structure of the TAPBPR-MHC I complex defines the mechanism of peptide loading and editing. Thomas C, et al. Science, 2017 Nov 24. PMID 29025996

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Get into the groove! The influence of TAPBPR on cargo selection.
      Title: Get into the groove! The influence of TAPBPR on cargo selection.
    2. The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I.
      Title: The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I.
    3. The Ins and Outs of TAPBPR.
      Title: The Ins and Outs of TAPBPR.
    4. Why TAPBPR? Implications of an additional player in MHC class I peptide presentation.
      Title: Why TAPBPR? Implications of an additional player in MHC class I peptide presentation.
    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. TAPBPR promotes antigen loading on MHC-I molecules using a peptide trap.
      Title: TAPBPR promotes antigen loading on MHC-I molecules using a peptide trap.
    7. A loop structure allows TAPBPR to exert its dual function as MHC I chaperone and peptide editor.
      Title: A loop structure allows TAPBPR to exert its dual function as MHC I chaperone and peptide editor.
    8. Distinct Polymorphisms in HLA Class I Molecules Govern Their Susceptibility to Peptide Editing by TAPBPR.
      Title: Distinct Polymorphisms in HLA Class I Molecules Govern Their Susceptibility to Peptide Editing by TAPBPR.
    9. The ability of TAPBPR to interact with MHC class I molecules outside of the ER.
      Title: Preferential interaction of MHC class I with TAPBPR in the absence of glycosylation.
    10. The results demonstrate an inverse relationship between MHC-I peptide occupancy and TAPBPR binding affinity, wherein the lifetime and structural features of transiently bound peptides control the regulation of a conformational switch located near the TAPBPR binding site, which triggers TAPBPR release.
      Title: Peptide exchange on MHC-I by TAPBPR is driven by a negative allostery release cycle.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

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

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10143

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC class I protein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MHC class I protein complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables TAP complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of antigen processing and presentation of peptide antigen via MHC class I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of MHC class I peptide loading complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tapasin-related protein
    Names
    TAP binding protein related
    TAP-binding protein-related protein
    TAPASIN-R
    tapasin-like

    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.

    mRNA and Protein(s)

    1. NM_001351355.2 → NP_001338284.1  tapasin-related protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005840
      Related
      ENST00000543567.5
      Conserved Domains (2) summary
      cd05771
      Location:136 → 266
      IgC_Tapasin_R; Tapasin-R immunoglobulin-like domain
      cl11960
      Location:74 → 170
      Ig; Immunoglobulin domain

    2. NM_018009.5 → NP_060479.3  tapasin-related protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_060479.3

      Status: VALIDATED

      Source sequence(s)
      AI184901, BC015017, CR997450, DB054664
      Consensus CDS
      CCDS8546.1
      UniProtKB/Swiss-Prot
      Q9BX59, Q9NWB8
      UniProtKB/TrEMBL
      Q53GH5
      Related
      ENSP00000266556.7, ENST00000266556.8
      Conserved Domains (3) summary
      cd05771
      Location:266 → 396
      IgC_Tapasin_R; Tapasin-R immunoglobulin-like domain
      smart00410
      Location:198 → 300
      IG_like; Immunoglobulin like
      cl11960
      Location:204 → 300
      Ig; Immunoglobulin domain

    RNA

    1. NR_147126.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005840
      Related
      ENST00000539384.5

    2. NR_147127.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005840

    3. NR_147128.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005840

    4. NR_147129.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005840

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6451649..6472006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001748777.3 RNA Sequence

    2. XR_001748778.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6462036..6482343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488630.1 RNA Sequence

    2. XR_008488631.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BX59.2 GenPept UniProtKB/Swiss-Prot:Q9BX59

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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