Tripeptidyl peptidase I

TPP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTPP1, CLN2, LPIC, SCAR7, TPP-1, GIG1, Tripeptidyl peptidase I, tripeptidyl peptidase 1
External IDsOMIM: 607998; MGI: 1336194; HomoloGene: 335; GeneCards: TPP1; OMA:TPP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000391

NM_009906

RefSeq (protein)

NP_000382

NP_034036

Location (UCSC)Chr 11: 6.61 – 6.62 MbChr 7: 105.39 – 105.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tripeptidyl-peptidase 1, also known as Lysosomal pepstatin-insensitive protease, is an enzyme that in humans is encoded by the TPP1 gene, also known as CLN2.[5][6] TPP1 should not be confused with the TPP1 shelterin protein which protects telomeres and is encoded by the ACD gene.[7] Mutations in the TPP1 gene leads to late-infantile neuronal ceroid lipofuscinosis.[8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166340Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030894Ensembl, 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. ^ Liu CG, Sleat DE, Donnelly RJ, Lobel P (June 1998). "Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis". Genomics. 50 (2): 206–12. doi:10.1006/geno.1998.5328. PMID 9653647.
  6. ^ "Entrez Gene: TPP1 tripeptidyl peptidase I".
  7. ^ "ACD ACD, shelterin complex subunit and telomerase recruitment factor [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-03.
  8. ^ Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES (Nov 2002). "[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]". Voprosy Meditsinskoi Khimii. 48 (6): 594–8. PMID 12698559.