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TPP1 (tripeptidyl peptidase 1)

Identity

Alias_namesCLN2
SCAR7
ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)
spinocerebellar ataxia, autosomal recessive 7
tripeptidyl peptidase I
HGNC (Hugo) TPP1
LocusID (NCBI) 1200
Atlas_Id 46412
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 6633997 and ends at 6640692 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CD74 (5q32) / TPP1 (11p15.4)DNAJB9 (7q31.1) / TPP1 (11p15.4)LZTS3 (20p13) / TPP1 (11p15.4)
MALAT1 (11q13.1) / TPP1 (11p15.4)PEX11B (1q21.1) / TPP1 (11p15.4)PRAF2 (Xp11.23) / TPP1 (11p15.4)
RNF213 (17q25.3) / TPP1 (11p15.4)TPP1 (11p15.4) / PRKAR1A (17q24.2)

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
LRG (Locus Reference Genomic)LRG_830
Cards
Entrez_Gene (NCBI)TPP1  1200  tripeptidyl peptidase 1
AliasesCLN2; GIG1; LPIC; SCAR7; 
TPP-1
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
TCGA cBioPortalTPP1
AceView (NCBI)TPP1
Genatlas (Paris)TPP1
WikiGenes1200
SOURCE (Princeton)TPP1
Genetics Home Reference (NIH)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   
Gene and transcription
Genbank (Entrez)AF017456 AI023962 AK222499 AK222538 AK293518
RefSeq transcript (Entrez)NM_000391
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008653 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)TPP1
Cluster EST : UnigeneHs.523454 [ NCBI ]
CGAP (NCI)Hs.523454
Alternative Splicing GalleryENSG00000166340
Gene ExpressionTPP1 [ NCBI-GEO ]   TPP1 [ EBI - ARRAY_EXPRESS ]   TPP1 [ SEEK ]   TPP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TPP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1200
GTEX Portal (Tissue expression)TPP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14773   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14773  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14773
Splice isoforms : SwissVarO14773
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 ]   
PhosPhoSitePlusO14773
Domaine pattern : Prosite (Expaxy)SEDOLISIN (PS51695)   
Domains : Interpro (EBI)Peptidase_S53_propep    Peptidase_S8/S53_dom    Prot_inh_propept    Sedolisin_dom   
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)  
Conserved Domain (NCBI)TPP1
DMDM Disease mutations1200
Blocks (Seattle)TPP1
PDB (SRS)1R60    3EDY    3EE6   
PDB (PDBSum)1R60    3EDY    3EE6   
PDB (IMB)1R60    3EDY    3EE6   
PDB (RSDB)1R60    3EDY    3EE6   
Structural Biology KnowledgeBase1R60    3EDY    3EE6   
SCOP (Structural Classification of Proteins)1R60    3EDY    3EE6   
CATH (Classification of proteins structures)1R60    3EDY    3EE6   
SuperfamilyO14773
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
STRING (EMBL)TPP1
ZODIACTPP1
Ontologies - Pathways
QuickGOO14773
Ontology : AmiGOendopeptidase activity  endopeptidase activity  serine-type endopeptidase activity  protein binding  mitochondrion  lysosome  lysosome  proteolysis  lipid metabolic process  lysosome organization  nervous system development  central nervous system development  peptidase activity  serine-type peptidase activity  tripeptidyl-peptidase activity  tripeptidyl-peptidase activity  protein catabolic process  epithelial cell differentiation  IRE1-mediated unfolded protein response  peptide binding  melanosome  peptide catabolic process  lysosomal lumen  bone resorption  metal ion binding  neuromuscular process controlling balance  extracellular exosome  
Ontology : EGO-EBIendopeptidase activity  endopeptidase activity  serine-type endopeptidase activity  protein binding  mitochondrion  lysosome  lysosome  proteolysis  lipid metabolic process  lysosome organization  nervous system development  central nervous system development  peptidase activity  serine-type peptidase activity  tripeptidyl-peptidase activity  tripeptidyl-peptidase activity  protein catabolic process  epithelial cell differentiation  IRE1-mediated unfolded protein response  peptide binding  melanosome  peptide catabolic process  lysosomal lumen  bone resorption  metal ion binding  neuromuscular process controlling balance  extracellular exosome  
Pathways : KEGGLysosome   
NDEx NetworkTPP1
Atlas of Cancer Signalling NetworkTPP1
Wikipedia pathwaysTPP1
Orthology - Evolution
OrthoDB1200
GeneTree (enSembl)ENSG00000166340
Phylogenetic Trees/Animal Genes : TreeFamTPP1
HOVERGENO14773
HOGENOMO14773
Homologs : HomoloGeneTPP1
Homology/Alignments : Family Browser (UCSC)TPP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPP1
dbVarTPP1
ClinVarTPP1
1000_GenomesTPP1 
Exome Variant ServerTPP1
ExAC (Exome Aggregation Consortium)TPP1 (select the gene name)
Genetic variants : HAPMAP1200
Genomic Variants (DGV)TPP1 [DGVbeta]
DECIPHER (Syndromes)11:6633997-6640692  ENSG00000166340
CONAN: Copy Number AnalysisTPP1 
Mutations
ICGC Data PortalTPP1 
TCGA Data PortalTPP1 
Broad Tumor PortalTPP1
OASIS PortalTPP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPP1
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
BioMutasearch TPP1
DgiDB (Drug Gene Interaction Database)TPP1
DoCM (Curated mutations)TPP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPP1 (select a term)
intoGenTPP1
Cancer3DTPP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM204500    607998   
Orphanet19110    20595   
MedgenTPP1
Genetic Testing Registry TPP1
NextProtO14773 [Medical]
TSGene1200
GENETestsTPP1
Huge Navigator TPP1 [HugePedia]
snp3D : Map Gene to Disease1200
BioCentury BCIQTPP1
ClinGenTPP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1200
Chemical/Pharm GKB GenePA26600
Clinical trialTPP1
Miscellaneous
canSAR (ICR)TPP1 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPP1
EVEXTPP1
GoPubMedTPP1
iHOPTPP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:54:22 CET 2016

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