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Aliases for TAPBP Gene

Aliases for TAPBP Gene

  • TAP Binding Protein (Tapasin) 2 3 5
  • TAP-Associated Protein 3 4
  • TAP-Binding Protein 3 4
  • NGS-17 3 4
  • NGS17 3 4
  • TAPA 3 4
  • TPSN 3 4
  • TPN 3 4

External Ids for TAPBP Gene

Previous GeneCards Identifiers for TAPBP Gene

  • GC06M033269
  • GC06M033314
  • GC06M033375
  • GC06M033267
  • GC06M033009

Summaries for TAPBP Gene

Entrez Gene Summary for TAPBP Gene

  • This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for TAPBP Gene

TAPBP (TAP Binding Protein (Tapasin)) is a Protein Coding gene. Diseases associated with TAPBP include bare lymphocyte syndrome, type i and immunodeficiency by defective expression of hla class 1. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include unfolded protein binding and MHC class I protein binding. An important paralog of this gene is TAPBPL.

UniProtKB/Swiss-Prot for TAPBP Gene

  • Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).

Gene Wiki entry for TAPBP Gene

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

Genomics for TAPBP Gene

Regulatory Elements for TAPBP Gene

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

ENSRs around TAPBP on UCSC Golden Path with GeneCards custom track

Genomic Location for TAPBP Gene

Chromosome:
6
Start:
33,299,694 bp from pter
End:
33,314,387 bp from pter
Size:
14,694 bases
Orientation:
Minus strand

Genomic View for TAPBP Gene

Genes around TAPBP on UCSC Golden Path with GeneCards custom track

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

Proteins for TAPBP Gene

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

    Protein Symbol:
    O15533-TPSN_HUMAN
    Recommended name:
    Tapasin
    Protein Accession:
    O15533
    Secondary Accessions:
    • A2AB91
    • A2ABC0
    • B0V003
    • B0V0A6
    • B2ZUA4
    • E9PGM2
    • O15210
    • O15272
    • Q5STJ8
    • Q5STK6
    • Q5STQ5
    • Q5STQ6
    • Q66K65
    • Q96KK7
    • Q9HAN8
    • Q9UEE0
    • Q9UEE4
    • Q9UIZ6
    • Q9Y6K2

    Protein attributes for TAPBP Gene

    Size:
    448 amino acids
    Molecular mass:
    47626 Da
    Quaternary structure:
    • Heterodimer with PDIA3; disulfide-linked. Interacts with TAP1 and is thus a subunit of the TAP complex, also known as the peptide loading complex (PLC). Interaction with TAP1 is TAP2-independent and is required for efficient peptide-TAP interaction. Obligatory mediator for the interaction between newly assembled MHC class I molecules, calreticulin, PDIA3 and TAP. Up to 4 MHC class I/tapasin complexes bind to 1 TAP.
    SequenceCaution:
    • Sequence=AAD32924.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TAPBP Gene

    Alternative splice isoforms for TAPBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAPBP Gene

Proteomics data for TAPBP Gene at MOPED

Post-translational modifications for TAPBP Gene

  • Ubiquitination at Lys 40 and Lys 104
  • Glycosylation at Asn 253
  • Modification sites at PhosphoSitePlus

Other Protein References for TAPBP Gene

Antibody Products

No data available for DME Specific Peptides for TAPBP Gene

Domains & Families for TAPBP Gene

Gene Families for TAPBP Gene

Protein Domains for TAPBP Gene

Suggested Antigen Peptide Sequences for TAPBP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15533

UniProtKB/Swiss-Prot:

TPSN_HUMAN :
  • The N-terminus is required for efficient association with MHC class I molecule and for a stable interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminal region.
Domain:
  • The N-terminus is required for efficient association with MHC class I molecule and for a stable interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminal region.
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with TAPBP: view

Function for TAPBP Gene

Molecular function for TAPBP Gene

GENATLAS Biochemistry:
tapasin,truncated actin P binding protein,21kDa,widely expressed,involved in the assembly and function of multimeric MHC class J-TAP complexes,transporter associated with antigen processing
UniProtKB/Swiss-Prot Function:
Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).

Gene Ontology (GO) - Molecular Function for TAPBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12213826
GO:0046978 TAP1 binding TAS 12788224
GO:0046979 TAP2 binding TAS 12788224
genes like me logo Genes that share ontologies with TAPBP: view
genes like me logo Genes that share phenotypes with TAPBP: view

Human Phenotype Ontology for TAPBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TAPBP Gene

MGI Knock Outs for TAPBP:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TAPBP Gene

Localization for TAPBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAPBP Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for TAPBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with TAPBP: view

Pathways & Interactions for TAPBP Gene

genes like me logo Genes that share pathways with TAPBP: view

Pathways by source for TAPBP Gene

Gene Ontology (GO) - Biological Process for TAPBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I IEA --
GO:0050823 peptide antigen stabilization ISS --
GO:0061635 regulation of protein complex stability IDA 18802093
genes like me logo Genes that share ontologies with TAPBP: view

No data available for SIGNOR curated interactions for TAPBP Gene

Drugs & Compounds for TAPBP Gene

(7) Drugs for TAPBP Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 1029

(3) Additional Compounds for TAPBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAPBP: view

Transcripts for TAPBP Gene

Unigene Clusters for TAPBP Gene

TAP binding protein (tapasin):
Representative Sequences:

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

No ASD Table

Relevant External Links for TAPBP Gene

GeneLoc Exon Structure for
TAPBP
ECgene alternative splicing isoforms for
TAPBP

Expression for TAPBP Gene

mRNA expression in normal human tissues for TAPBP Gene

mRNA differential expression in normal tissues according to GTEx for TAPBP Gene

This gene is overexpressed in Whole Blood (x6.0).

Protein differential expression in normal tissues from HIPED for TAPBP Gene

This gene is overexpressed in Nasal epithelium (17.5) and Lymph node (9.7).

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



SOURCE GeneReport for Unigene cluster for TAPBP Gene Hs.370937

mRNA Expression by UniProt/SwissProt for TAPBP Gene

O15533-TPSN_HUMAN
Tissue specificity: Neutrophils, mostly in fully differentiated cells.
genes like me logo Genes that share expression patterns with TAPBP: view

Protein tissue co-expression partners for TAPBP Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TAPBP Gene

Orthologs for TAPBP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TAPBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TAPBP 35
  • 83.33 (n)
  • 82.33 (a)
TAPBP 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAPBP 35
  • 81.99 (n)
  • 80.49 (a)
TAPBP 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tapbp 35
  • 78.45 (n)
  • 75.12 (a)
Tapbp 16
Tapbp 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TAPBP 35
  • 99.55 (n)
  • 99.78 (a)
TAPBP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tapbp 35
  • 78.6 (n)
  • 76.05 (a)
oppossum
(Monodelphis domestica)
Mammalia TAPBP 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAPBP 35
  • 50.47 (n)
  • 38.87 (a)
TPN 36
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tapbp 35
  • 42.36 (n)
  • 32.55 (a)
zebrafish
(Danio rerio)
Actinopterygii tapbp 35
  • 45.08 (n)
  • 33.16 (a)
tapbp 36
  • 28 (a)
OneToMany
TAPBP (1 of 2) 36
  • 26 (a)
OneToMany
Species with no ortholog for TAPBP:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 TAPBP Gene

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

Paralogs for TAPBP Gene

Paralogs for TAPBP Gene

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

Variants for TAPBP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TAPBP Gene

O15533-TPSN_HUMAN
The 2 alleles of TAPBP; TAPBP*01 (Tapasin*01) (shown here) and TAPBP*02 (Tapasin*02); are in linkage disequilibria with the HLA-DRB1 locus in a Japanese population.

Sequence variations from dbSNP and Humsavar for TAPBP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2071888 - 33,305,078(-) GCCTA(C/G)AGTTC reference, missense
rs1014779 -- 33,308,689(-) TGTGT(C/T)GGGCT intron-variant
rs1800836 -- 33,304,934(-) GTGGG(G/T)ACCGT intron-variant
rs1800837 -- 33,304,849(-) GAGGG(A/G)TAATG intron-variant
rs1800838 -- 33,304,764(-) TGGGT(A/T)CCCTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830634 CNV Loss 17160897
nsv830635 CNV Loss 17160897
nsv823665 CNV Gain 20364138

Variation tolerance for TAPBP Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAPBP Gene

HapMap Linkage Disequilibrium report
TAPBP
Human Gene Mutation Database (HGMD)
TAPBP

Disorders for TAPBP Gene

MalaCards: The human disease database

(7) MalaCards diseases for TAPBP Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type i
  • bare lymphocyte syndrome, type i, due to tap2 deficiency
immunodeficiency by defective expression of hla class 1
  • bare lymphocyte syndrome type 1
maxillary sinus squamous cell carcinoma
  • epidermoid carcinoma of the maxillofacial sinus
mhc class i deficiency
  • bare lymphocyte syndrome, type i
maxillary sinus cancer
  • malignant neoplasm of antrum
- elite association - COSMIC cancer census association via MalaCards
Search TAPBP in MalaCards View complete list of genes associated with diseases

Relevant External Links for TAPBP

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

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

Publications for TAPBP Gene

  1. Cloning and functional characterization of a subunit of the transporter associated with antigen processing. (PMID: 9238042) Li S. … Wang P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. Tapasin edits peptides on MHC class I molecules by accelerating peptide exchange. (PMID: 20017190) Praveen P.V. … Springer S. (Eur. J. Immunol. 2010) 3 23
  3. Mechanisms of function of tapasin, a critical major histocompatibility complex class I assembly factor. (PMID: 20070606) Rizvi S.M. … Raghavan M. (Traffic 2010) 3 23
  4. HLA-B27 polymorphism at position 116 critically influences the association with TAP/tapasin, intracellular trafficking and conformational homodimers formation. (PMID: 19167761) Blanco-Gelaz M.A. … LA^pez-Larrea C. (Mol. Immunol. 2009) 3 23
  5. Transporter associated with antigen processing and the chaperone tapasin: are non-classical HLA genes keys to the pathogenesis of schizophrenia? (PMID: 19217216) Fellerhoff B. … Wank R. (Med. Hypotheses 2009) 3 23

Products for TAPBP Gene

Sources for TAPBP Gene

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