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Aliases for TAPBPL Gene

Aliases for TAPBPL Gene

  • TAP Binding Protein Like 2 3 5
  • TAP-Binding Protein-Related Protein 3 4
  • Tapasin-Related Protein 3 4
  • Tapasin-Like 3 4
  • TAPASIN-R 3 4
  • TAPBP-R 3 4
  • TAP Binding Protein Related 3
  • TAP-Binding Protein-Like 4
  • TAP Binding Protein-Like 2
  • 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. Diseases associated with TAPBPL include Lymphoproliferative Syndrome 2 and Congenital Myasthenic Syndrome. 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).

Additional gene information for TAPBPL Gene

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

Genomics for TAPBPL Gene

GeneHancer (GH) Regulatory Elements for TAPBPL Gene

Promoters and enhancers for TAPBPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J006449 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 645.3 +0.4 402 4.4 SP1 ZFX MNT ZNF148 NKRF POLR2A ZNF687 RELA CREM MLLT1 TAPBPL CD27-AS1 MRPL51 PTPN6 VAMP1 CD27 ENSG00000276718
GH12J006468 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 44.1 +18.4 18446 3.4 MTA3 ZFX SP1 ELF3 NKRF POLR2A ZNF121 CEBPG GTF2F1 CSDE1 VAMP1 TAPBPL NCAPD2 ZNF384 NOP2 ENSG00000219410 ING4 ENSG00000247853 CHD4 MRPL51
GH12J006492 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 39.8 +42.4 42399 3.7 SP1 ZFX CC2D1A ELF3 MNT NKRF POLR2A CEBPG GTF2F1 ZNF687 MRPL51 NCAPD2 TAPBPL NOP2 ZNF384 ENSG00000247853 ENSG00000219410 CHD4 ING4 VAMP1
GH12J006459 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 50 +10.5 10489 6.3 SP1 NKRF ZNF687 RELA CREM MLLT1 ZNF680 ZNF560 IKZF1 POLR2A ZNF384 ENSG00000219410 CHD4 ENSG00000247853 TAPBPL MRPL51 NOP2 SCARNA12 VAMP1 EMG1
GH12J006530 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.7 +85.4 85441 12.8 HDGF ZNF652 SP1 ZFX ELF3 CC2D1A CTCF ZNF148 NKRF POLR2A GAPDH ENSG00000269968 GPR162 ZNF384 CHD4 ENSG00000219410 ENSG00000247853 NOP2 NCAPD2 ATN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAPBPL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAPBPL gene promoter:
  • AML1a
  • AP-1
  • GR
  • GR-alpha
  • GR-beta
  • HSF1 (long)
  • HSF1short
  • p53

Genomic Locations for TAPBPL Gene

Genomic Locations for TAPBPL Gene
chr12:6,451,655-6,466,517
(GRCh38/hg38)
Size:
14,863 bases
Orientation:
Plus strand
chr12:6,560,856-6,575,683
(GRCh37/hg19)
Size:
14,828 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:
    • Interacts with peptide-free HLA-A*02-B2M complexes or those loaded with low affinity peptides, likely facilitating peptide exchange onto higher affinity peptides.

    Three dimensional structures from OCA and Proteopedia for TAPBPL Gene

    Alternative splice isoforms for TAPBPL Gene

neXtProt entry for TAPBPL Gene

Post-translational modifications for TAPBPL Gene

  • Glycosylation at isoforms=2, 3, 7254
  • Modification sites at PhosphoSitePlus

Other Protein References for TAPBPL Gene

No data available for DME Specific Peptides for TAPBPL Gene

Domains & Families for TAPBPL Gene

Gene Families for TAPBPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for TAPBPL Gene

GenScript: Design optimal peptide antigens:
  • Tapasin-like (TPSNR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for TAPBPL Gene

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).
UniProtKB/Swiss-Prot Induction:
By interferon gamma.

Phenotypes From GWAS Catalog for TAPBPL Gene

Gene Ontology (GO) - Molecular Function for TAPBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24163410
GO:0023024 MHC class I protein complex binding IDA 26869717
GO:0044877 protein-containing complex binding IPI 23401559
genes like me logo Genes that share ontologies with TAPBPL: view
genes like me logo Genes that share phenotypes with TAPBPL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TAPBPL

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for TAPBPL - Now 50% OFF >
  • * TAPBPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TAPBPL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAPBPL gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 3
extracellular 1
mitochondrion 0
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TAPBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TAPBPL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TAPBPL Gene

Pathways & Interactions for TAPBPL Gene

PathCards logo

SuperPathways for TAPBPL Gene

No Data Available

Interacting Proteins for TAPBPL Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266556%0d9606.ENSP00000452780%0d9606.ENSP00000379873%0d9606.ENSP00000399168%0d9606.ENSP00000300714%0d
Selected Interacting proteins: Q9BX59-TPSNR_HUMAN ENSP00000266556 for TAPBPL Gene via UniProtKB STRING IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
B2M

Gene Ontology (GO) - Biological Process for TAPBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002502 peptide antigen assembly with MHC class I protein complex IDA 26869717
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

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for TAPBPL Gene

TAP binding protein-like:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for TAPBPL - Now 50% OFF >
  • * TAPBPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TAPBPL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TAPBPL Gene



Protein tissue co-expression partners for TAPBPL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TAPBPL Gene:

TAPBPL

SOURCE GeneReport for Unigene cluster for TAPBPL Gene:

Hs.504597

Evidence on tissue expression from TISSUES for TAPBPL Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with TAPBPL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TAPBPL 35 34
  • 98.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TAPBPL 35 34
  • 80.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TAPBPL 34 35
  • 80.43 (n)
rat
(Rattus norvegicus)
Mammalia Tapbpl 34
  • 78.27 (n)
mouse
(Mus musculus)
Mammalia Tapbpl 17 35 34
  • 78.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAPBPL 35
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 19 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TAPBPL 34 35
  • 57.82 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tapbpl 34
  • 49.39 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100150889 34
  • 51.3 (n)
tapbpl 35
  • 30 (a)
OneToOne
Species where no ortholog for TAPBPL was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TAPBPL: view image

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 Variation AA Info Type
rs11830902 benign, Lymphoproliferative syndrome 2 6,450,164(+) T/C upstream_transcript_variant
rs2532502 benign, Lymphoproliferative syndrome 2, not specified 6,451,307(+) A/G/T upstream_transcript_variant
rs374055287 likely-benign, Lymphoproliferative syndrome 2 6,450,886(+) C/T upstream_transcript_variant
rs375150093 likely-benign, Lymphoproliferative syndrome 2 6,450,587(+) C/T upstream_transcript_variant
rs754046104 pathogenic, Congenital myasthenic syndrome 6,465,984(+) C/A/G/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2759876 CNV gain 17122850
esv34325 CNV gain 17911159
esv34390 CNV gain 17911159
esv3628406 CNV gain 21293372
nsv442252 CNV gain 18776908
nsv525022 CNV gain 19592680
nsv818881 CNV gain 17921354
nsv8894 CNV gain 18304495

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)

Additional Variant Information for TAPBPL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAPBPL

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

Disorders for TAPBPL Gene

MalaCards: The human disease database

(2) MalaCards diseases for TAPBPL Gene - From: GeneCards

Disorder Aliases PubMed IDs
lymphoproliferative syndrome 2
  • lpfs2
congenital myasthenic syndrome
  • congenital myasthenic syndromes
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TAPBPL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TAPBPL: view

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

Publications for TAPBPL Gene

  1. A human TAPBP (TAPASIN)-related gene, TAPBP-R. (PMID: 11920573) Teng MS … Trowsdale J (European journal of immunology 2002) 2 3 4 23 58
  2. Interaction of TAPBPR, a tapasin homolog, with MHC-I molecules promotes peptide editing. (PMID: 26869717) Morozov GI … Margulies DH (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4 58
  3. TAPBPR isoforms exhibit altered association with MHC class I. (PMID: 24444341) Porter KM … Boyle LH (Immunology 2014) 3 4 58
  4. Tapasin-related protein TAPBPR is an additional component of the MHC class I presentation pathway. (PMID: 23401559) Boyle LH … Trowsdale J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 45 58

Products for TAPBPL Gene

Sources for TAPBPL Gene

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