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TPP1 (tripeptidyl peptidase I)

Identity

Other namesCLN2
LPIC
SCAR7
TPP-1
HGNC (Hugo) TPP1
LocusID (NCBI) 1200
Location 11p15.4
Location_base_pair Starts at 6633997 and ends at 6640692 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TPP1   2073
Cards
Entrez_Gene (NCBI)TPP1  1200  tripeptidyl peptidase I
GeneCards (Weizmann)TPP1
Ensembl hg19 (Hinxton)ENSG00000166340 [Gene_View]  chr11:6633997-6640692 [Contig_View]  TPP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166340 [Gene_View]  chr11:6633997-6640692 [Contig_View]  TPP1 [Vega]
ICGC DataPortalENSG00000166340
cBioPortalTPP1
AceView (NCBI)TPP1
Genatlas (Paris)TPP1
WikiGenes1200
SOURCE (Princeton)TPP1
Genomic and cartography
GoldenPath hg19 (UCSC)TPP1  -     chr11:6633997-6640692 -  11p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TPP1  -     11p15.4   [Description]    (hg38-Dec_2013)
EnsemblTPP1 - 11p15.4 [CytoView hg19]  TPP1 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBITPP1 [Mapview hg19]  TPP1 [Mapview hg38]
OMIM204500   607998   609270   
Gene and transcription
Genbank (Entrez)AF017456 AI023962 AK222499 AK222538 AK293518
RefSeq transcript (Entrez)NM_000391
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_008653 NT_009237 NW_001838021 NW_004929378
Consensus coding sequences : CCDS (NCBI)TPP1
Cluster EST : UnigeneHs.523454 [ NCBI ]
CGAP (NCI)Hs.523454
Alternative Splicing : Fast-db (Paris)GSHG0005545
Alternative Splicing GalleryENSG00000166340
Gene ExpressionTPP1 [ NCBI-GEO ]     TPP1 [ SEEK ]   TPP1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14773 (Uniprot)
NextProtO14773  [Medical]
With graphics : InterProO14773
Splice isoforms : SwissVarO14773 (Swissvar)
Catalytic activity : Enzyme3.4.14.9 [ Enzyme-Expasy ]   3.4.14.93.4.14.9 [ IntEnz-EBI ]   3.4.14.9 [ BRENDA ]   3.4.14.9 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)SEDOLISIN (PS51695)   
Domains : Interpro (EBI)Peptidase_S53_propep    Peptidase_S8/S53_dom    Prot_inh_propept   
Related proteins : CluSTrO14773
Domain families : Pfam (Sanger)Peptidase_S8 (PF00082)    Pro-kuma_activ (PF09286)   
Domain families : Pfam (NCBI)pfam00082    pfam09286   
Domain families : Smart (EMBL)Pro-kuma_activ (SM00944)  
DMDM Disease mutations1200
Blocks (Seattle)O14773
PDB (SRS)1R60    3EDY    3EE6   
PDB (PDBSum)1R60    3EDY    3EE6   
PDB (IMB)1R60    3EDY    3EE6   
PDB (RSDB)1R60    3EDY    3EE6   
Human Protein AtlasENSG00000166340
Peptide AtlasO14773
HPRD06415
IPIIPI00977773   IPI00909872   IPI00298237   IPI00554617   IPI00909516   IPI00977176   IPI00922058   
Protein Interaction databases
DIP (DOE-UCLA)O14773
IntAct (EBI)O14773
FunCoupENSG00000166340
BioGRIDTPP1
IntegromeDBTPP1
STRING (EMBL)TPP1
Ontologies - Pathways
QuickGOO14773
Ontology : AmiGOendopeptidase activity  endopeptidase activity  serine-type endopeptidase activity  protein binding  mitochondrion  lysosome  lysosome  proteolysis  lipid metabolic process  activation of signaling protein activity involved in unfolded protein response  lysosome organization  nervous system development  cell death  peptidase activity  serine-type peptidase activity  tripeptidyl-peptidase activity  tripeptidyl-peptidase activity  protein catabolic process  epithelial cell differentiation  endoplasmic reticulum unfolded protein response  peptide binding  melanosome  peptide catabolic process  lysosomal lumen  cellular protein metabolic process  bone resorption  metal ion binding  neuromuscular process controlling balance  extracellular vesicular exosome  
Ontology : EGO-EBIendopeptidase activity  endopeptidase activity  serine-type endopeptidase activity  protein binding  mitochondrion  lysosome  lysosome  proteolysis  lipid metabolic process  activation of signaling protein activity involved in unfolded protein response  lysosome organization  nervous system development  cell death  peptidase activity  serine-type peptidase activity  tripeptidyl-peptidase activity  tripeptidyl-peptidase activity  protein catabolic process  epithelial cell differentiation  endoplasmic reticulum unfolded protein response  peptide binding  melanosome  peptide catabolic process  lysosomal lumen  cellular protein metabolic process  bone resorption  metal ion binding  neuromuscular process controlling balance  extracellular vesicular exosome  
Pathways : KEGGLysosome   
Protein Interaction DatabaseTPP1
DoCM (Curated mutations)TPP1
Wikipedia pathwaysTPP1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTPP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPP1
dbVarTPP1
ClinVarTPP1
1000_GenomesTPP1 
Exome Variant ServerTPP1
SNP (GeneSNP Utah)TPP1
SNP : HGBaseTPP1
Genetic variants : HAPMAPTPP1
Genomic VariantsTPP1  TPP1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000166340 
Somatic Mutations in Cancer : COSMICTPP1 
CONAN: Copy Number AnalysisTPP1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:6633997-6640692
Mutations and Diseases : HGMDTPP1
OMIM204500    607998    609270   
MedgenTPP1
NextProtO14773 [Medical]
GENETestsTPP1
Disease Genetic AssociationTPP1
Huge Navigator TPP1 [HugePedia]  TPP1 [HugeCancerGEM]
snp3D : Map Gene to Disease1200
DGIdb (Drug Gene Interaction db)TPP1
General knowledge
Homologs : HomoloGeneTPP1
Homology/Alignments : Family Browser (UCSC)TPP1
Phylogenetic Trees/Animal Genes : TreeFamTPP1
Chemical/Protein Interactions : CTD1200
Chemical/Pharm GKB GenePA26600
Clinical trialTPP1
Cancer Resource (Charite)ENSG00000166340
Other databases
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
CoreMineTPP1
GoPubMedTPP1
iHOPTPP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:02:41 CET 2014

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