TAP1 deficiency

Gene Information

Names

HUGO name: TAP1

Alias(es):

  • ABC17
  • ABCB2
  • APT1
  • D6S114E
  • PSF1
  • RING4
  • Y3
  • ABC transporter, MHC 1
  • ATP-binding cassette, sub-family B (MDR/TAP), member 2
  • ATP-binding cassette, sub-family B, member 2
  • Antigen peptide transporter 1
  • Peptide supply factor 1
  • Transporter 1, ABC (ATP binding cassette)
  • Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
  • Transporter, ATP-binding cassette, major histocompatibility complex, 1
  • Antigen peptide transporter 1 (APT1)
  • Peptide transporter TAP1
  • Peptide transporter PSF1
  • Peptide supply factor 1) (PSF-1)
  • Peptide transporter involved in antigen processing 1

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via Tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus e3-19k glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vil-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules.

Subunit:

Heterodimer of TAP1 and TAP2

Subcellular location:

Integral membrane protein. Endoplasmic reticulum. The transmembrane segments seem to form a pore in the membrane.

Induction:

By interferon gamma

Polymorphism:

There are five common alleles; TAP1*0101 (psf1a), TAP1*0201 (psf1b), TAP1*0301 (psf1c), TAP1*0104 and TAP1*x.

Similarity:

Belongs to the abc transporter family. Mdr subfamily

Structures (PDB)

1JJ7 Crystal Structure Of The C-Terminal ATPase Domain Of Human Tap1

Domains

Cytoplasmic domain: 1-15

    Lumenal domain: 37-53

      Cytoplasmic domain: 77-92

        Lumenal domain: 114-133

          Cytoplasmic domain: 155-186

            Lumenal domain: 208-227

              Cytoplasmic domain: 249-298

                Lumenal domain: 320-328

                  Cytoplasmic domain: 350-418

                    Lumenal domain: 440-443

                      Cytoplasmic domain: 465-748

                        Involved in peptide-binding site domain: 375-420

                          Involved in peptide-binding site domain: 453-487

                            ABC transporter domain: 503-748

                              Expression

                              Expression pattern for human

                              Tissue Expression (%) Clones
                              colon tumor 7.41 5:2311
                              larynx 4.44 1:771
                              natural killer cells, cell line 4.38 7:5480
                              breast tumor 4.23 1:809
                              invasive prostate tumor 4.09 1:838
                              colonic mucosa from 3 patients with Crohn's disease 3.69 3:2785
                              amelanotic melanoma, cell line 3.65 15:14069
                              glioblastoma with probably TP53 mutation and without EGFR amplification 3.53 1:970
                              juvenile granulosa tumor 3.17 2:2159
                              thyroid gland 3.00 1:1141
                              colon tumor 7.41 5:2311
                              larynx 4.44 1:771
                              natural killer cells, cell line 4.38 7:5480
                              breast tumor 4.23 1:809
                              invasive prostate tumor 4.09 1:838
                              colonic mucosa from 3 patients with Crohn's disease 3.69 3:2785
                              amelanotic melanoma, cell line 3.65 15:14069
                              glioblastoma with probably TP53 mutation and without EGFR amplification 3.53 1:970
                              juvenile granulosa tumor 3.17 2:2159
                              thyroid gland 3.00 1:1141