Tripeptidyl peptidase II

Tripeptidyl-peptidase 2 is an enzyme that in humans is encoded by the TPP2 gene.[5][6] Among other things it is heavily implicated in MHC (HLA) class-I processing, as it has both endopeptidase and exopeptidase activity.[7]

TPP2
Identifiers
AliasesTPP2, TPP-2, TPPII, Tripeptidyl peptidase II, tripeptidyl peptidase 2, TPP-II, IMD78
External IDsOMIM: 190470 MGI: 102724 HomoloGene: 2471 GeneCards: TPP2
Orthologs
SpeciesHumanMouse
Entrez

7174

22019

Ensembl

ENSG00000134900

ENSMUSG00000041763

UniProt

P29144

Q64514

RefSeq (mRNA)

NM_003291
NM_001330588
NM_001367947

NM_009418
NM_001310540

RefSeq (protein)

NP_001317517
NP_003282
NP_001354876

NP_001297469
NP_033444

Location (UCSC)Chr 13: 102.6 – 102.68 MbChr 1: 43.97 – 44.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance and genetic deficiency

Biallelic deleterious variants in the TPP2 gene may result in a recessive disorder with immune deficiency, autoimmune disease and intellectual disability.[8][9] Some genetic variants may result in a milder disease with sterile brain inflammation mimicking multiple sclerosis.[10] These observations underline the fundamental role of TPP2 in cells of the immune system.

References

  1. GRCh38: Ensembl release 89: ENSG00000134900 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041763 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Tomkinson B, Jonsson AK (January 1991). "Characterization of cDNA for human tripeptidyl peptidase II: the N-terminal part of the enzyme is similar to subtilisin". Biochemistry. 30 (1): 168–174. doi:10.1021/bi00215a025. PMID 1670990.
  6. "Entrez Gene: TPP2 tripeptidyl peptidase II".
  7. Reits E, Neijssen J, Herberts C, Benckhuijsen W, Janssen L, Drijfhout JW, Neefjes J (April 2004). "A major role for TPPII in trimming proteasomal degradation products for MHC class I antigen presentation". Immunity. 20 (4): 495–506. doi:10.1016/S1074-7613(04)00074-3. PMID 15084277.
  8. Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, et al. (December 2014). "Dual proteolytic pathways govern glycolysis and immune competence". Cell. 159 (7): 1578–1590. doi:10.1016/j.cell.2014.12.001. PMC 4297473. PMID 25525876.
  9. Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, et al. (June 2021). "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene". Clinical Genetics. 99 (6): 780–788. doi:10.1111/cge.13942. PMID 33586135. S2CID 231926886.
  10. Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, et al. (December 2018). "TPP2 mutation associated with sterile brain inflammation mimicking MS". Neurology. Genetics. 4 (6): e285. doi:10.1212/NXG.0000000000000285. PMC 6244017. PMID 30533531.
  • The MEROPS online database for peptidases and their inhibitors: S08.090

Further reading

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