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

Gene ID: 55080, updated on 27-Nov-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
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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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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.

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