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Aliases for TAPBPL Gene

Aliases for TAPBPL Gene

  • TAP Binding Protein Like 2 3
  • TAP Binding Protein-Like 2 3 5
  • TAP-Binding Protein-Related Protein 3 4
  • TAP-Binding Protein-Like 3 4
  • Tapasin-Like 3 4
  • TAPASIN-R 3 4
  • TAPBP-R 3 4
  • TAP Binding Protein Related 3
  • TAPBPR 3

External Ids for TAPBPL Gene

Previous GeneCards Identifiers for TAPBPL Gene

  • GC12P006432
  • GC12P006561

Summaries for TAPBPL Gene

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. GO annotations related to this gene include protein complex binding. An important paralog of this gene is TAPBP.

UniProtKB/Swiss-Prot for TAPBPL Gene

  • Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). Expression seems to slow down and down-regulate MHC class I surface expression.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAPBPL Gene

Genomics for TAPBPL Gene

Regulatory Elements for TAPBPL Gene

Promoters for TAPBPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TAPBPL on UCSC Golden Path with GeneCards custom track

Genomic Location for TAPBPL Gene

Chromosome:
12
Start:
6,451,655 bp from pter
End:
6,466,517 bp from pter
Size:
14,863 bases
Orientation:
Plus strand

Genomic View for TAPBPL Gene

Genes around TAPBPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAPBPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAPBPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAPBPL Gene

Proteins for TAPBPL Gene

  • Protein details for TAPBPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX59-TPSNR_HUMAN
    Recommended name:
    Tapasin-related protein
    Protein Accession:
    Q9BX59
    Secondary Accessions:
    • Q9NWB8

    Protein attributes for TAPBPL Gene

    Size:
    468 amino acids
    Molecular mass:
    50183 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TAPBPL Gene

neXtProt entry for TAPBPL Gene

Proteomics data for TAPBPL Gene at MOPED

Post-translational modifications for TAPBPL Gene

  • Glycosylation at Thr 254
  • Modification sites at PhosphoSitePlus

Other Protein References for TAPBPL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TAPBPL Gene

Domains & Families for TAPBPL Gene

Gene Families for TAPBPL Gene

Protein Domains for TAPBPL Gene

Suggested Antigen Peptide Sequences for TAPBPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BX59

UniProtKB/Swiss-Prot:

TPSNR_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with TAPBPL: view

Function for TAPBPL Gene

Molecular function for TAPBPL Gene

UniProtKB/Swiss-Prot Function:
Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). Expression seems to slow down and down-regulate MHC class I surface expression.
UniProtKB/Swiss-Prot Induction:
By interferon gamma.

Phenotypes for TAPBPL Gene

GenomeRNAi human phenotypes for TAPBPL:
genes like me logo Genes that share phenotypes with TAPBPL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TAPBPL

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TAPBPL Gene

Localization for TAPBPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAPBPL Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Microsome membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=Mainly found in endoplasmic reticulum but a minority is found on the cell surface (PubMed:11920573).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TAPBPL Gene COMPARTMENTS Subcellular localization image for TAPBPL gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 4
golgi apparatus 3
extracellular 2
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for TAPBPL Gene

Pathways & Interactions for TAPBPL Gene

SuperPathways for TAPBPL Gene

No Data Available

Interacting Proteins for TAPBPL Gene

Gene Ontology (GO) - Biological Process for TAPBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002590 negative regulation of antigen processing and presentation of peptide antigen via MHC class I IDA 23401559
genes like me logo Genes that share ontologies with TAPBPL: view

No data available for Pathways by source and SIGNOR curated interactions for TAPBPL Gene

Drugs & Compounds for TAPBPL Gene

No Compound Related Data Available

Transcripts for TAPBPL Gene

mRNA/cDNA for TAPBPL Gene

Unigene Clusters for TAPBPL Gene

TAP binding protein-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAPBPL Gene

No ASD Table

Relevant External Links for TAPBPL Gene

GeneLoc Exon Structure for
TAPBPL
ECgene alternative splicing isoforms for
TAPBPL

Expression for TAPBPL Gene

mRNA expression in normal human tissues for TAPBPL Gene

Protein differential expression in normal tissues from HIPED for TAPBPL Gene

This gene is overexpressed in NK cells (21.0), Lung (12.4), and Placenta (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TAPBPL Gene



SOURCE GeneReport for Unigene cluster for TAPBPL Gene Hs.504597

genes like me logo Genes that share expression patterns with TAPBPL: view

Protein tissue co-expression partners for TAPBPL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TAPBPL Gene

Orthologs for TAPBPL Gene

This gene was present in the common ancestor of chordates.

Orthologs for TAPBPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TAPBPL 35
  • 80.93 (n)
  • 75.65 (a)
TAPBPL 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAPBPL 35
  • 80.43 (n)
  • 71.01 (a)
TAPBPL 36
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tapbpl 35
  • 78.04 (n)
  • 70.53 (a)
Tapbpl 16
Tapbpl 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TAPBPL 35
  • 98.86 (n)
  • 99.15 (a)
TAPBPL 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tapbpl 35
  • 78.27 (n)
  • 71.93 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 19 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TAPBPL 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAPBPL 35
  • 57.82 (n)
  • 45.66 (a)
TAPBPL 36
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tapbpl 35
  • 49.39 (n)
  • 37.17 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100150889 35
  • 51.3 (n)
  • 42.59 (a)
tapbpl 36
  • 30 (a)
OneToOne
Species with no ortholog for TAPBPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TAPBPL Gene

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

Paralogs for TAPBPL Gene

Paralogs for TAPBPL Gene

genes like me logo Genes that share paralogs with TAPBPL: view

Variants for TAPBPL Gene

Sequence variations from dbSNP and Humsavar for TAPBPL Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs7295376 - 6,453,602(+) CTGGA(A/C/G)GGGGA nc-transcript-variant, reference, missense
rs1045546 - 6,458,741(-) TCCAC(A/G)TCACC nc-transcript-variant, reference, missense
VAR_071757 -
rs2532501 - 6,453,587(-) CTGCA(C/T)GTTGG nc-transcript-variant, reference, missense
rs2532500 - 6,453,644(-) CTTGG(A/C/T)GACCC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TAPBPL Gene

Variant ID Type Subtype PubMed ID
esv34325 CNV Gain 17911159
dgv453e1 CNV Complex 17122850
esv34390 CNV Gain 17911159
essv12131 CNV CNV 17122850
nsv818881 CNV Gain 17921354
nsv442252 CNV CNV 18776908
nsv8894 CNV Gain 18304495
nsv525022 CNV Gain 19592680

Variation tolerance for TAPBPL Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.23; 88.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAPBPL Gene

HapMap Linkage Disequilibrium report
TAPBPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAPBPL Gene

Disorders for TAPBPL Gene

Relevant External Links for TAPBPL

Genetic Association Database (GAD)
TAPBPL
Human Genome Epidemiology (HuGE) Navigator
TAPBPL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAPBPL

No disorders were found for TAPBPL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TAPBPL Gene

Publications for TAPBPL Gene

  1. A human TAPBP (TAPASIN)-related gene, TAPBP-R. (PMID: 11920573) Teng M.S. … Trowsdale J. (Eur. J. Immunol. 2002) 2 3 4 23 67
  2. TAPBPR isoforms exhibit altered association with MHC class I. (PMID: 24444341) Porter K.M. … Boyle L.H. (Immunology 2014) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Tapasin-related protein TAPBPR is an additional component of the MHC class I presentation pathway. (PMID: 23401559) Boyle L.H. … Trowsdale J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3
  5. The binding of TAPBPR and Tapasin to MHC class I is mutually exclusive. (PMID: 24163410) Hermann C. … Boyle L.H. (J. Immunol. 2013) 3

Products for TAPBPL Gene

Sources for TAPBPL Gene

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