Details for: TPP1

Gene ID: 1200

Symbol: TPP1

Ensembl ID: ENSG00000166340

Description: tripeptidyl peptidase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 211.7712
    Cell Significance Index: -32.9400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 121.7063
    Cell Significance Index: -30.8700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 99.7457
    Cell Significance Index: -41.0900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 84.3308
    Cell Significance Index: -34.2600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 83.8765
    Cell Significance Index: -39.6000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 72.3971
    Cell Significance Index: -37.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 28.8169
    Cell Significance Index: -35.5300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.4236
    Cell Significance Index: -35.9600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.3474
    Cell Significance Index: -28.7100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.3283
    Cell Significance Index: -36.8100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.7930
    Cell Significance Index: -10.4900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.3188
    Cell Significance Index: 61.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.5610
    Cell Significance Index: 177.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.3233
    Cell Significance Index: 270.7500
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 1.9942
    Cell Significance Index: 13.2300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.7761
    Cell Significance Index: 47.5900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.4672
    Cell Significance Index: 1324.8000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1680
    Cell Significance Index: 70.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0434
    Cell Significance Index: 113.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5548
    Cell Significance Index: 76.1900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.5163
    Cell Significance Index: 13.8100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4913
    Cell Significance Index: 31.7000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4546
    Cell Significance Index: 44.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4329
    Cell Significance Index: 85.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4270
    Cell Significance Index: 85.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3683
    Cell Significance Index: 59.9000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3565
    Cell Significance Index: 9.5200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3134
    Cell Significance Index: 36.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2996
    Cell Significance Index: 36.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2908
    Cell Significance Index: 13.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2529
    Cell Significance Index: 138.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2379
    Cell Significance Index: 85.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2332
    Cell Significance Index: 42.0300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2201
    Cell Significance Index: 2.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1903
    Cell Significance Index: 36.2100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1804
    Cell Significance Index: 23.1200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1682
    Cell Significance Index: 116.3200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1220
    Cell Significance Index: 53.9600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1124
    Cell Significance Index: 5.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0879
    Cell Significance Index: 10.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0568
    Cell Significance Index: 9.7000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0388
    Cell Significance Index: 1.1400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0209
    Cell Significance Index: 2.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0115
    Cell Significance Index: 0.3200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0068
    Cell Significance Index: -5.1100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0092
    Cell Significance Index: -5.7700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0112
    Cell Significance Index: -21.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0130
    Cell Significance Index: -9.6600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0213
    Cell Significance Index: -39.2700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0223
    Cell Significance Index: -16.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0229
    Cell Significance Index: -35.2400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0299
    Cell Significance Index: -40.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0389
    Cell Significance Index: -1.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0415
    Cell Significance Index: -23.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0446
    Cell Significance Index: -28.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0458
    Cell Significance Index: -1.3200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0685
    Cell Significance Index: -3.5600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0742
    Cell Significance Index: -9.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0781
    Cell Significance Index: -35.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0792
    Cell Significance Index: -16.6900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0821
    Cell Significance Index: -6.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0996
    Cell Significance Index: -28.6700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1523
    Cell Significance Index: -8.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1632
    Cell Significance Index: -18.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1639
    Cell Significance Index: -3.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1725
    Cell Significance Index: -25.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1796
    Cell Significance Index: -8.4400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1906
    Cell Significance Index: -13.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2291
    Cell Significance Index: -8.0500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2552
    Cell Significance Index: -6.3800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3177
    Cell Significance Index: -16.0500
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.3290
    Cell Significance Index: -2.1000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3503
    Cell Significance Index: -26.8900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3516
    Cell Significance Index: -36.6100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3564
    Cell Significance Index: -22.4600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3728
    Cell Significance Index: -25.0700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3925
    Cell Significance Index: -10.3200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4169
    Cell Significance Index: -11.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4437
    Cell Significance Index: -35.1400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4691
    Cell Significance Index: -19.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4833
    Cell Significance Index: -29.6300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4922
    Cell Significance Index: -27.6200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4946
    Cell Significance Index: -5.1200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4946
    Cell Significance Index: -10.2600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4970
    Cell Significance Index: -30.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5515
    Cell Significance Index: -17.6700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5911
    Cell Significance Index: -15.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5974
    Cell Significance Index: -31.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6581
    Cell Significance Index: -29.1100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.6613
    Cell Significance Index: -11.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.6956
    Cell Significance Index: -9.4900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.7039
    Cell Significance Index: -5.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7486
    Cell Significance Index: -22.0500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.7606
    Cell Significance Index: -12.7300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.7612
    Cell Significance Index: -26.4500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7846
    Cell Significance Index: -29.7100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.8156
    Cell Significance Index: -5.3200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8310
    Cell Significance Index: -30.5100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.9381
    Cell Significance Index: -18.3100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.9530
    Cell Significance Index: -33.3900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TPP1 is a 45-kDa enzyme that belongs to the peptidase family S8. It is expressed in various cell types, including macrophages, monocytes, and dendritic cells, which are essential for the innate and adaptive immune responses. TPP1 exhibits a broad substrate specificity, cleaving peptides of varying lengths and structures. Its activity is regulated by various factors, including pH, temperature, and the presence of inhibitors. **Pathways and Functions:** TPP1 is involved in several cellular pathways, including: 1. **Endopeptidase activity:** TPP1 cleaves peptides and proteins, influencing protein degradation, signaling, and cellular differentiation. 2. **Lysosomal lumen:** TPP1 is localized to the lysosomal lumen, where it regulates the degradation of proteins and lipids. 3. **Unfolded protein response (UPR):** TPP1 is activated in response to ER stress, leading to the activation of chaperones and the regulation of protein folding. 4. **Cellular responses to stimuli:** TPP1 is involved in the regulation of cell signaling pathways, including those involved in immune response and cellular differentiation. 5. **Central nervous system development:** TPP1 is expressed in the developing nervous system, where it regulates the cleavage of proteins involved in neuronal development and function. **Clinical Significance:** TPP1 has been implicated in various diseases, including: 1. **Alzheimer's disease:** TPP1 has been shown to be involved in the degradation of amyloid-beta peptides, which are implicated in the pathogenesis of Alzheimer's disease. 2. **Multiple sclerosis:** TPP1 has been found to be expressed in the central nervous system of patients with multiple sclerosis, where it may play a role in the regulation of immune responses and tissue damage. 3. **Inflammatory disorders:** TPP1 has been implicated in the regulation of inflammatory responses in various diseases, including rheumatoid arthritis and inflammatory bowel disease. In conclusion, TPP1 is a multifaceted enzyme that plays a crucial role in various cellular processes, including immune response, cellular differentiation, and protein degradation. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of TPP1 and its potential therapeutic applications. **Significantly expressed cells:** Kupffer cell, CD14-positive, CD16-negative classical monocyte, lung macrophage, alveolar macrophage, Hofbauer cell, CD14-positive, CD16-positive monocyte, CD14-positive monocyte, elicited macrophage, alternatively activated macrophage, blood cell **Proteins:** TPP1_HUMAN (Tripeptidyl-peptidase 1) **Pathways/Ontology:** Bone resorption, Cellular responses to stimuli, Cellular responses to stress, Central nervous system development, Endopeptidase activity, Epithelial cell differentiation, Extracellular exosome, Golgi apparatus, Ire1alpha activates chaperones, Lipid metabolic process, Lysophosphatidic acid binding, Lysosomal lumen, Lysosomal protein catabolic process, Lysosome, Lysosome organization, Melanosome, Membrane raft, Metal ion binding, Nervous system development, Neuromuscular process controlling balance, Peptidase activity, Peptide binding, Peptide catabolic process, Protein binding, Protein catabolic process, Protein localization to chromosome, telomeric region, Proteolysis, Recycling endosome, Serine-type endopeptidase activity, Serine-type peptidase activity, Sulfatide binding, Tripeptidyl-peptidase activity, Unfolded protein response (upr), Xbp1(s) activates chaperone genes

Genular Protein ID: 1332768125

Symbol: TPP1_HUMAN

Name: Tripeptidyl-peptidase 1

UniProtKB Accession Codes:

O14773 Q53HT1 Q5JAK6 Q6UX56 Q71JP6 Q96C37

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 EMBL 7 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 28 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SABIO-RK 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9295267

Title: Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 9295267

DOI: 10.1126/science.277.5333.1802

PubMed ID: 9653647

Title: Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 9653647

DOI: 10.1006/geno.1998.5328

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11054422

Title: The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.

PubMed ID: 11054422

DOI: 10.1074/jbc.m008562200

PubMed ID: 12643545

Title: Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.

PubMed ID: 12643545

DOI: 10.1021/pr025562r

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 10477428

Title: Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

PubMed ID: 10477428

DOI: 10.1002/(sici)1098-1004(1999)14:3<199::aid-humu3>3.0.co;2-a

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 17237713

Title: Neuronal ceroid lipofuscinosis: a common pathway?

PubMed ID: 17237713

DOI: 10.1203/pdr.0b013e31802d8a4a

PubMed ID: 19941651

Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.

PubMed ID: 19941651

DOI: 10.1186/1471-2121-10-83

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 19038966

Title: Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 19038966

DOI: 10.1074/jbc.m806947200

PubMed ID: 19038967

Title: Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.

PubMed ID: 19038967

DOI: 10.1074/jbc.m806943200

PubMed ID: 10330339

Title: Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

PubMed ID: 10330339

DOI: 10.1086/302427

PubMed ID: 10665500

Title: Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 10665500

DOI: 10.1002/1531-8249(200002)47:2<254::aid-ana19>3.3.co;2-z

PubMed ID: 11339651

Title: Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 11339651

DOI: 10.1097/00125817-200011000-00002

PubMed ID: 11241479

Title: Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 11241479

DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z

PubMed ID: 11589012

Title: New mutations in the neuronal ceroid lipofuscinosis genes.

PubMed ID: 11589012

DOI: 10.1053/ejpn.2000.0427

PubMed ID: 11462245

Title: Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.

PubMed ID: 11462245

DOI: 10.1002/humu.1170

PubMed ID: 12376936

Title: Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

PubMed ID: 12376936

DOI: 10.1002/ajmg.10660

PubMed ID: 12414822

Title: Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.

PubMed ID: 12414822

DOI: 10.1136/jmg.39.11.822

PubMed ID: 12698559

Title: Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation.

PubMed ID: 12698559

PubMed ID: 14736728

Title: Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

PubMed ID: 14736728

DOI: 10.1093/glycob/cwh054

PubMed ID: 19201763

Title: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 19201763

DOI: 10.1093/brain/awn366

PubMed ID: 20340139

Title: Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

PubMed ID: 20340139

DOI: 10.1002/humu.21251

PubMed ID: 22612257

Title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PubMed ID: 22612257

DOI: 10.1111/j.1528-1167.2012.03516.x

PubMed ID: 21990111

Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PubMed ID: 21990111

DOI: 10.1002/humu.21624

PubMed ID: 23418007

Title: Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

PubMed ID: 23418007

DOI: 10.1002/humu.22292

Sequence Information:

  • Length: 563
  • Mass: 61248
  • Checksum: 7299D902F6AE8555
  • Sequence:
    • MGLQACLLGL FALILSGKCS YSPEPDQRRT LPPGWVSLGR ADPEEELSLT FALRQQNVER 
LSELVQAVSD PSSPQYGKYL TLENVADLVR PSPLTLHTVQ KWLLAAGAQK CHSVITQDFL 
TCWLSIRQAE LLLPGAEFHH YVGGPTETHV VRSPHPYQLP QALAPHVDFV GGLHRFPPTS 
SLRQRPEPQV TGTVGLHLGV TPSVIRKRYN LTSQDVGSGT SNNSQACAQF LEQYFHDSDL 
AQFMRLFGGN FAHQASVARV VGQQGRGRAG IEASLDVQYL MSAGANISTW VYSSPGRHEG 
QEPFLQWLML LSNESALPHV HTVSYGDDED SLSSAYIQRV NTELMKAAAR GLTLLFASGD 
SGAGCWSVSG RHQFRPTFPA SSPYVTTVGG TSFQEPFLIT NEIVDYISGG GFSNVFPRPS 
YQEEAVTKFL SSSPHLPPSS YFNASGRAYP DVAALSDGYW VVSNRVPIPW VSGTSASTPV 
FGGILSLINE HRILSGRPPL GFLNPRLYQQ HGAGLFDVTR GCHESCLDEE VEGQGFCSGP 
GWDPVTGWGT PNFPALLKTL LNP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.