Tapasin deficiency

Gene Information

Names

HUGO name: TAPBP

Alias(es):

  • NGS17
  • TAPA
  • TAPASIN
  • TPN
  • TPSN
  • TAP binding protein (tapasin)
  • Tapasin precursor
  • TAP-associated protein

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

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).

Subunit:

Interacts with TAP1 and is thus a subunit of the TAP complex. 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, clareticulin, erp57 and TAP. Up to 4 MHC class I/tapasin complexes bind to 1 TAP.

Subcellular location:

Type I membrane protein. Endoplasmic reticulum.

Polymorphism:

The 2 alleles of tapbp; tapbp*01 (tapasin*01) and tapbp*02 (tapasin*02); are in linkage disequilibria with the HLA-drb1 locus in a japanese population.

Tissue specificity:

Neutrophils, mostly in fully differentiated cells.

Similarity:

Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Structures (PDB)

Domains

Ig-like C1-type domain: 292-399

    Other features

    Signal peptide: 1-20

      Tapasin: 21-448

        Disulfide bond: 315-382

          N-linked (glcnac...) glycosylation site: 253

            Other related resourses:

            Expression

            Expression pattern for human

            Tissue Expression (%) Clones
            colon mucosa 13.55 1:1345
            thymus 8.10 1:2249
            tongue 6.76 1:2696
            cervix 5.49 10:33205
            pericardium 4.59 1:3970
            mammary_gland 4.31 14:59134
            small_intestine 4.09 3:13365
            thyroid 3.96 2:9195
            peripheral_nervous_system 3.32 4:21972
            thymus 3.29 1:5542