Gene Gene information from NCBI Gene database.
Entrez ID 6892
Gene name TAP binding protein
Gene symbol TAPBP
Synonyms (NCBI Gene)
MHC1D3NGS17TAPATPNTPSN
Chromosome 6
Chromosome location 6p21.32
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs767195857 G>A Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
984
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 factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
IRF1 Unknown 18694960
NFKB1 Unknown 18694960
RELA Unknown 18694960
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
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 IEA
GO:0002502 Process Peptide antigen assembly with MHC class I protein complex IBA
GO:0002502 Process Peptide antigen assembly with MHC class I protein complex IDA 36104323
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601962 11566 ENSG00000231925
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BARE LYMPHOCYTE SYNDROME, TYPE I Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 17082617, 28278760
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29330203
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 15743475 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21679443 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 23736108
★☆☆☆☆
Found in Text Mining only
Bare Lymphocyte Syndrome Type I Bare lymphocyte syndrome Pubtator 12149238 Associate
★☆☆☆☆
Found in Text Mining only
Bare Lymphocyte Syndrome, Type I Bare Lymphocyte Syndrome BEFREE 12149238
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bare Lymphocyte Syndrome, Type I Bare Lymphocyte Syndrome ORPHANET_DG 12149238
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bare Lymphocyte Syndrome, Type I Bare Lymphocyte Syndrome GENOMICS_ENGLAND_DG 12149238
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bare Lymphocyte Syndrome, Type I Bare Lymphocyte Syndrome CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations