Entity Details

Primary name TPSN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15533
EntryNameTPSN_HUMAN
FullNameTapasin
TaxID9606
Evidenceevidence at protein level
Length448
SequenceStatuscomplete
DateCreated2001-01-24
DateModified2021-06-02

Ontological Relatives

GenesTAPBP

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0002398 MHC class Ib protein complex assembly
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
GO:0006955 immune response
GO:0010468 regulation of gene expression
GO:0015433 ABC-type peptide antigen transporter activity
GO:0016021 integral component of membrane
GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I
GO:0030670 phagocytic vesicle membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0042288 MHC class I protein binding
GO:0042605 peptide antigen binding
GO:0042824 MHC class I peptide loading complex
GO:0046978 TAP1 binding
GO:0046979 TAP2 binding
GO:0050823 peptide antigen stabilization
GO:0051082 unfolded protein binding
GO:0061635 regulation of protein complex stability
GO:0062061 TAP complex binding
GO:0065003 protein-containing complex assembly
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
GO:1990668 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR003597 Immunoglobulin C1-setDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR008056 TapasinFamilyFamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
604571 OMIMBare lymphocyte syndrome 1 (BLS1)A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. The disease is caused by variants affecting the gene represented in this entry.