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TAP1 gene

transporter 1, ATP binding cassette subfamily B member
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Normal Function

The TAP1 gene provides instructions for making a protein that plays an important role in the immune system. The TAP1 protein assembles with another protein called TAP2 (produced from the TAP2 gene) to form a protein complex called transporter associated with antigen processing (TAP) complex. This complex, which is found in the membrane of a cell structure called the endoplasmic reticulum, moves (transports) protein fragments (peptides) from foreign invaders into the endoplasmic reticulum. There, the peptides are attached to major histocompatibility complex (MHC) class I proteins. The peptide-bound MHC class I proteins are then moved to the surface of the cell so that specialized immune system cells can interact with them. When these immune system cells recognize the peptides as harmful, they launch an immune response to get rid of the foreign invaders.

Health Conditions Related to Genetic Changes

Bare lymphocyte syndrome type I

At least six mutations in the TAP1 gene have been found to cause bare lymphocyte syndrome type I (BLS I). This immune system disorder often causes recurrent bacterial infections in the respiratory tract and open sores (ulcers) on the skin, although some people with BLS I have no symptoms of the condition. TAP1 gene mutations involved in BLS I prevent production of functional TAP1 protein. Absence of functional TAP1 impairs the formation of the TAP complex, without which peptides from foreign invaders cannot be transported into the endoplasmic reticulum and attached to MHC class I proteins. Consequently, MHC class I proteins are broken down, which results in a shortage of these proteins on the surface of cells. A lack of MHC class I proteins impairs the body's immune response to bacteria, leading to recurrent bacterial infections. Researchers are unsure why people with BLS I do not also get viral infections, but they suspect that other immune processes are able to recognize and fight viruses. It is also not clear how TAP1 gene mutations are involved in the development of skin ulcers.

More About This Health Condition

Other Names for This Gene

  • ABC transporter, MHC 1
  • ABC17
  • ABCB2
  • APT1
  • ATP-binding cassette sub-family B member 2
  • ATP-binding cassette, sub-family B (MDR/TAP), member 2
  • D6S114E
  • peptide supply factor 1
  • peptide transporter involved in antigen processing 1
  • peptide transporter PSF1
  • peptide transporter TAP1
  • PSF-1
  • PSF1
  • RING4
  • TAP1N
  • transporter 1 ATP-binding cassette sub-family B
  • transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
  • transporter associated with antigen processing
  • transporter, ATP-binding cassette, major histocompatibility complex, 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Research Resources

References

  • Eggensperger S, Tampé R. The transporter associated with antigen processing: a key player in adaptive immunity. Biol Chem. 2015 Sep;396(9-10):1059-72. doi: 10.1515/hsz-2014-0320. Review. Citation on PubMed
  • Hanalioglu D, Ayvaz DC, Ozgur TT, van der Burg M, Sanal O, Tezcan I. A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature. Clin Immunol. 2017 May;178:74-78. doi: 10.1016/j.clim.2017.01.011. Epub 2017 Feb 2. Review. Citation on PubMed
  • Neefjes JJ, Momburg F, Hämmerling GJ. Selective and ATP-dependent translocation of peptides by the MHC-encoded transporter. Science. 1993 Aug 6;261(5122):769-71. Erratum in: Science 1994 Apr 1;264(5155):16. Citation on PubMed
  • Parcej D, Tampé R. ABC proteins in antigen translocation and viral inhibition. Nat Chem Biol. 2010 Aug;6(8):572-80. doi: 10.1038/nchembio.410. Review. Erratum in: Nat Chem Biol. 2010 Oct;6(10):782. Citation on PubMed
  • Zimmer J, Andrès E, Donato L, Hanau D, Hentges F, de la Salle H. Clinical and immunological aspects of HLA class I deficiency. QJM. 2005 Oct;98(10):719-27. Epub 2005 Aug 8. Review. Citation on PubMed
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