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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-Like 3 4
  • TAPASIN-R 3 4
  • TAPBP-R 3 4
  • TAP Binding Protein Related 3
  • TAP Binding Protein-Like 2
  • TAP-Binding Protein-Like 4
  • Tapasin-Related Protein 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. Gene Ontology (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.

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
GH12I006449 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 595.4 +0.4 402 4.4 PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 TAPBPL CD27-AS1 MRPL51 PTPN6 VAMP1 CD27 ENSG00000276718
GH12I006468 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 44.1 +18.6 18590 3.1 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 VAMP1 TAPBPL ZNF384 NCAPD2 ENSG00000219410 ENSG00000247853 NOP2 ING4 CHD4 MRPL51
GH12I006492 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 39.8 +42.5 42482 3.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 MRPL51 NCAPD2 TAPBPL ZNF384 NOP2 CHD4 ENSG00000247853 ENSG00000219410 SCARNA12 ENSG00000256967
GH12I006459 Enhancer 1.3 Ensembl ENCODE dbSUPER 50 +10.5 10489 6.3 HDGF PKNOX1 ZFP64 BMI1 IRF4 ZNF213 ZNF207 ZNF143 ATF7 ETV6 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 TAPBPL MRPL51 NOP2 SCARNA12 VAMP1 P3H3
GH12I006530 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.7 +85.4 85441 12.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GAPDH ENSG00000269968 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 NCAPD2 NOP2 SPSB2 ENSG00000256967
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAPBPL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAPBPL gene promoter:

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)

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

    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 posLast=254254
  • 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:

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). Expression seems to slow down and down-regulate MHC class I surface expression.
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:0032403 protein complex binding IPI 23401559
genes like me logo Genes that share ontologies with TAPBPL: view

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

Clone Products

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 2
mitochondrion 1
peroxisome 1
lysosome 1

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

SuperPathways for TAPBPL Gene

No Data Available

Interacting Proteins for TAPBPL Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266556%0d%0a9606.ENSP00000317980%0d%0a9606.ENSP00000320084%0d%0a9606.ENSP00000419512%0d%0a9606.ENSP00000365473%0d%0a9606.ENSP00000330200%0d%0a
Selected Interacting proteins: ENSP00000266556 Q9BX59-TPSNR_HUMAN for TAPBPL Gene via STRING UniProtKB IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
BTN2A2

Gene Ontology (GO) - Biological Process for TAPBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
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:

Clone 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 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, PaxDb, 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 33 34
  • 98.86 (n)
cow
(Bos Taurus)
Mammalia TAPBPL 33 34
  • 80.93 (n)
dog
(Canis familiaris)
Mammalia TAPBPL 33 34
  • 80.43 (n)
rat
(Rattus norvegicus)
Mammalia Tapbpl 33
  • 78.27 (n)
mouse
(Mus musculus)
Mammalia Tapbpl 33 16 34
  • 78.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAPBPL 34
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 19 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TAPBPL 33 34
  • 57.82 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tapbpl 33
  • 49.39 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100150889 33
  • 51.3 (n)
tapbpl 34
  • 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)

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
rs878854975 pathogenic, Ataxia, spastic, 1, autosomal dominant, Spastic paraplegia, not provided 6,464,888(+) A/C genic_downstream_transcript_variant, intron_variant
rs71584837 uncertain-significance, not specified 6,462,840(+) G/A genic_downstream_transcript_variant, intron_variant
rs776075796 uncertain-significance, not specified 6,464,895(+) A/G 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

Additional Disease Information for TAPBPL

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

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 MS … Trowsdale J (European journal of immunology 2002) 2 3 4 22 58
  2. TAPBPR isoforms exhibit altered association with MHC class I. (PMID: 24444341) Porter KM … Boyle LH (Immunology 2014) 3 4 58
  3. 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
  4. 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 44 58
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58

Products for TAPBPL Gene

Sources for TAPBPL Gene

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