Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6892
Gene name Gene Name - the full gene name approved by the HGNC.
TAP binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAPBP
Synonyms (NCBI Gene) Gene synonyms aliases
MHC1D3, NGS17, TAPA, TPN, TPSN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MHC1D3
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs767195857 G>A Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025665 hsa-miR-7-5p Microarray 19073608
MIRT028631 hsa-miR-30a-5p Proteomics 18668040
MIRT048442 hsa-miR-100-5p CLASH 23622248
MIRT042996 hsa-miR-324-3p CLASH 23622248
MIRT040821 hsa-miR-18a-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
IRF1 Unknown 18694960
NFKB1 Unknown 18694960
RELA Unknown 18694960
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 11884415
GO:0002398 Process MHC class Ib protein complex assembly IMP 12582157
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
GO:0005515 Function Protein binding IPI 12213826, 15793001, 17055437, 18802093, 19201886, 22810586
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601962 11566 ENSG00000231925
Protein
UniProt ID O15533
Protein name Tapasin (TPN) (TPSN) (NGS-17) (TAP-associated protein) (TAP-binding protein)
Protein 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). {ECO:0000269|PubMed:10636848, ECO:0000269|PubMed:12582157, ECO:0000269|PubMed
PDB 3F8U , 6ENY , 7QNG , 7QPD , 7TUE , 7TUF , 7TUG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 294 389 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Neutrophils, mostly in fully differentiated cells.
Sequence
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDL
DPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALD
GAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDL
SFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAA
WDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSV
SLSGHLQPPPVTTEQHGARYACRIHHPSL
PASGRSAEVTLEVAGLSGPSLEDSVGLFLSA
FLLLGLFKALGWAAVYLSTCKDSKKKAE
Sequence length 448
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Antigen processing and presentation
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
  ER-Phagosome pathway
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Ectopia lentis Ectopia Lentis rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 21156761
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
19217216
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 24790147
Arthritis Juvenile Associate 15743475
Arthritis Rheumatoid Associate 21679443
Bare Lymphocyte Syndrome Type I Associate 12149238
Carcinoma Non Small Cell Lung Associate 32923135
Colorectal Neoplasms Associate 23940558, 26310568
Death Associate 24790147
Emanuel syndrome Stimulate 16010586
Esophageal Squamous Cell Carcinoma Associate 25556465
Glioblastoma Associate 26313662