Tripeptidyl peptidase I information

TPP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3EDY, 3EE6
Identifiers
Aliases	TPP1, CLN2, LPIC, SCAR7, TPP-1, GIG1, Tripeptidyl peptidase I, tripeptidyl peptidase 1
External IDs	OMIM: 607998 MGI: 1336194 HomoloGene: 335 GeneCards: TPP1
Gene location (Human)
Chr.	Chromosome 11 (human)
End	6,619,448 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	105,401,442 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; inferior olivary nucleus; ; germinal epithelium; ; visceral pleura; ; stromal cell of endometrium; ; left adrenal gland; ; spleen; ; parietal pleura; ; monocyte; ; trabecular bone;
	Top expressed in
	calvaria; ; retinal pigment epithelium; ; ciliary body; ; right lung; ; proximal tubule; ; sternocleidomastoid muscle; ; kidney; ; ankle; ; right lung lobe; ; triceps brachii muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	tripeptidyl-peptidase activity; peptide binding; endopeptidase activity; metal ion binding; peptidase activity; protein binding; serine-type peptidase activity; serine-type endopeptidase activity; hydrolase activity;
Cellular component	melanosome; lysosomal lumen; mitochondrion; lysosome; extracellular exosome;
Biological process	epithelial cell differentiation; neuromuscular process controlling balance; lipid metabolism; bone resorption; nervous system development; proteolysis; central nervous system development; IRE1-mediated unfolded protein response; protein catabolic process; lysosome organization; peptide catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	1200
	12751
	ENSG00000166340
	ENSMUSG00000030894
	O14773
	O89023
	NM_000391
	NM_009906
	NP_000382
	NP_034036
	Wikidata
View/Edit Human	View/Edit Mouse

Tripeptidyl-peptidase 1, also known as Lysosomal pepstatin-insensitive protease, is an enzyme that in humans is encoded by the TPP1 gene.^[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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166340 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030894 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: TPP1 tripeptidyl peptidase I".
^ "ACD ACD, shelterin complex subunit and telomerase recruitment factor [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-03.
^ Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES (Nov 2002). "[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]". Voprosy Medit︠s︡inskoĭ Khimii. 48 (6): 594–8. PMID 12698559.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166340 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030894 – 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.

[pmid9653647-5] 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.

[entrez-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.

[pmid12698559-8] Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES (Nov 2002). "[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]". Voprosy Medit︠s︡inskoĭ Khimii. 48 (6): 594–8. PMID 12698559.

Tripeptidyl peptidase I information

and 12 Related for: Tripeptidyl peptidase I information

Tripeptidyl peptidase I

Tripeptidyl peptidase

Tripeptidyl peptidase II

Sedolisin

Shelterin

Neuronal ceroid lipofuscinosis

ERAP2

Batten disease

Cerliponase alfa

Thrombin

List of drugs granted breakthrough therapy designation

Catalytic triad