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TAPBP (TAP binding protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6892
Gene nameGene Name - the full gene name approved by the HGNC.
TAP binding protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TAPBP
SynonymsGene synonyms aliases
MHC1D3, NGS17, TAPA, TPN, TPSN
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs767195857 G>A Likely-pathogenic Coding sequence variant, stop gained
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDL
DPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALD
GAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDL
SFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAA
WDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSV
SLSGHLQPPPVTTEQHGARYACRIHHPSL
PASGRSAEVTLEVAGLSGPSLEDSVGLFLSA
FLLLGLFKALGWAAVYLSTCKDSKKKAE
Sequence length 448
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Ectopia lentis Ectopia Lentis rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 21156761
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 19217216
Unknown
Disease name Disease term dbSNP ID References
Bare lymphocyte syndrome Bare Lymphocyte Syndrome, Type I, Immunodeficiency by defective expression of MHC class I 12149238
Bronchiolitis Bronchiolitis
Bronchitis Recurrent bronchitis
Nasal polyposis Nasal Polyps

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