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TPP1 Gene

protein-coding   GIFtS: 66
GCID: GC11M006634

Tripeptidyl Peptidase I

(Previous names: ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky...)
(Previous symbols: CLN2, SCAR7)
  See TPP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tripeptidyl Peptidase I1 2     Spinocerebellar Ataxia, Autosomal Recessive 71
CLN21 2 3 5     TPP I1
SCAR71 2 5     Growth-Inhibiting Protein 12
Cell Growth-Inhibiting Gene 1 Protein2 3     Lysosomal Pepstatin Insensitive Protease2
Tripeptidyl Aminopeptidase2 3     Tripeptidyl-Peptidase 12
LPIC2 3     TPP-I3
TPP-12 3     Lysosomal Pepstatin-Insensitive Protease3
EC 3.4.14.93 8     Tripeptidyl-Peptidase I3
Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky
Disease)1
     

External Ids:    HGNC: 20731   Entrez Gene: 12002   Ensembl: ENSG000001663407   OMIM: 6079985   UniProtKB: O147733   

Export aliases for TPP1 gene to outside databases

Previous GC identifers: GC11M006591 GC11M006292


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TPP1 Gene:
This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to
cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a
catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene
result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific
neuropeptides and a subunit of ATP synthase in the lysosome. (provided by RefSeq, Jul 2008)

GeneCards Summary for TPP1 Gene:
TPP1 (tripeptidyl peptidase I) is a protein-coding gene. Diseases associated with TPP1 include late-infantile neuronal ceroid lipofuscinosis, and ceroid lipofuscinosis neuronal 2. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity.

UniProtKB/Swiss-Prot: TPP1_HUMAN, O14773
Function: Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal
peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires
substrates with an unsubstituted N-terminus (By similarity)

Gene Wiki entry for TPP1 (Tripeptidyl peptidase I) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPP1 gene promoter:
         CRE-BP1   HOXA5   ATF-2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPP1 promoter sequence
   Search Chromatin IP Primers for TPP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

TPP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPP1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M006634:  view genomic region     (about GC identifiers)

Start:
6,633,997 bp from pter      End:
6,640,692 bp from pter
Size:
6,696 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TPP1_HUMAN, O14773 (See protein sequence)
Recommended Name: Tripeptidyl-peptidase 1 precursor  
Size: 563 amino acids; 61248 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Monomer
Sequence caution: Sequence=AAM08412.1; Type=Miscellaneous discrepancy; Note=Incorrectly indicated as originating
from bovine; Sequence=AAQ88866.1; Type=Frameshift; Positions=551;
3 PDB 3D structures from and Proteopedia for TPP1:
1R60 (3D)        3EDY (3D)        3EE6 (3D)    
Secondary accessions: Q53HT1 Q5JAK6 Q6UX56 Q71JP6 Q96C37
Alternative splicing: 2 isoforms:  O14773-1   O14773-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TPP1: NX_O14773

Explore proteomics data for TPP1 at MOPED

Post-translational modifications: 

  • Activated by autocatalytic proteolytical processing upon acidification. N-glycosylation is required for processing
    and activity1
  • Glycosylation2 at Asn210, Asn222, Asn286, Asn313, Asn443
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPP1 (O14773) (see all 26)
     GCHESCL  GLHRFPP  RQRPEPQ  YGKYLTLE 


    See TPP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000382.3  
    ENSEMBL proteins: 
     ENSP00000299427   ENSP00000437066   ENSP00000398136   ENSP00000434647   ENSP00000435001  
    Reactome Protein details: O14773

    TPP1 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for TPP1
    Sino Biological Cell Lysate for TPP1
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    Cloud-Clone Corp. Proteins for TPP1

     
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    Search eBioscience for ELISAs for TPP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000209 Peptidase_S8/S53_dom
     IPR009020 Prot_inh_propept
     IPR015366 Peptidase_S53_propep

    Graphical View of Domain Structure for InterPro Entry O14773

    ProtoNet protein and cluster: O14773

    UniProtKB/Swiss-Prot: TPP1_HUMAN, O14773
    Similarity: Contains 1 peptidase S53 domain


    Find genes that share domains with TPP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPP1_HUMAN, O14773
    Function: Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal
    peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires
    substrates with an unsubstituted N-terminus (By similarity)
    Catalytic activity: Release of an N-terminal tripeptide from a polypeptide, but also has endopeptidase activity

         Enzyme Number (IUBMB): EC 3.4.14.91 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IMP10679303
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI12134079
    GO:0008233peptidase activity IMP9295267
    GO:0008236serine-type peptidase activity IMP11054422
         
    Find genes that share ontologies with TPP1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tpp1):
     behavior/neurological  cellular  homeostasis/metabolism  integument  mortality/aging 
     muscle  nervous system  respiratory system 

    Find genes that share phenotypes with TPP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tpp1tm1Plob for TPP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TPP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPP1

    miRNA
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    miRTarBase miRNAs that target TPP1:
    hsa-mir-877-5p (MIRT037364), hsa-mir-124-3p (MIRT022359)

    Block miRNA regulation of human, mouse, rat TPP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TPP1 (see all 36):
    hsa-miR-4291 hsa-miR-3938 hsa-let-7d hsa-miR-301a hsa-miR-3162-5p hsa-let-7g hsa-miR-1184 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidTPP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TPP1

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPP1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TPP1_HUMAN, O14773: Lysosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from
    stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    mitochondrion2
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome IMP9295267
    GO:0042470melanosome IEA--
    GO:0043202lysosomal lumen TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with TPP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TPP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    3Lysosome
    Lysosome


    Find genes that share SuperPaths with TPP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for TPP1
        XBP1(S) activates chaperone genes


    1 Kegg Pathway  (Kegg details for TPP1):
        Lysosome

        Pathway & Disease-focused RT2 Profiler PCR Array including TPP1: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TPP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for TPP1 (O147732, 3 ENSP000002994274) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NMBP089493, ENSP000003780894I2D: score=2 STRING: ENSP00000378089
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    POT1Q9NUX53, ENSP000003502494I2D: score=1 STRING: ENSP00000350249
    ATP6V1B2P212812, ENSP000002763904MINT-4054731 STRING: ENSP00000276390
    ATG10Q9H0Y03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IMP10965052
    GO:0006629lipid metabolic process TAS9295267
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007040lysosome organization ISS--
    GO:0007399nervous system development IMP9295267

    Find genes that share ontologies with TPP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TPP1

    3 HMDB Compounds for TPP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Neuromedin BGly-Asn-Leu-Trp-Ala-Thr-Gly-His-Phe-Met-NH2 87096-84-2--
    Neuromedin B (1-3)Gly-Asn-Leu ----
    Neuromedin B (4-10)Trp-Ala-Thr-Gly-His-Phe-Met-NH2 ----

    6 Novoseek inferred chemical compound relationships for TPP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tripeptide s 82.5 29 11589011 (1), 16869297 (1), 10470035 (1), 11445074 (1) (see all 16)
    serine 31.6 17 11054422 (3), 12488460 (2), 12025857 (1), 16869297 (1) (see all 9)
    mannose 6-phosphate 30.5 1 10428067 (1)
    atp 10.2 7 10965052 (2), 11332778 (1), 11415435 (1), 10349869 (1)
    oligonucleotide 6.89 4 17237767 (1), 17237768 (1), 20404094 (1)
    aspartate 0 1 15733845 (1)



    Find genes that share compounds with TPP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TPP1 gene: 
    NM_000391.3  

    Unigene Cluster for TPP1:

    Tripeptidyl peptidase I
    Hs.523454  [show with all ESTs]
    Unigene Representative Sequence: NM_000391
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299427(uc001mel.1) ENST00000533371(uc001mek.1) ENST00000524611
    ENST00000532191 ENST00000524924 ENST00000436873 ENST00000528807 ENST00000524788
    ENST00000528571 ENST00000428886(uc010rar.1) ENST00000534644 ENST00000530040
    ENST00000528917 ENST00000531754 ENST00000524903 ENST00000528657
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TPP1 (see all 36):
    hsa-miR-4291 hsa-miR-3938 hsa-let-7d hsa-miR-301a hsa-miR-3162-5p hsa-let-7g hsa-miR-1184 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidTPP1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TPP1

    Additional mRNA sequence: 

    AF017456.1 AK222499.1 AK222538.1 AK293518.1 AK293741.1 AK295801.1 AK299703.1 AK300998.1 
    AK303323.1 AK312388.1 AY268890.1 AY358502.1 BC014863.1 

    Selected DOTS entries (see all 32):

    DT.447122  DT.100701567  DT.97763427  DT.100836516  DT.97852548  DT.100788035  DT.100788046  DT.92455901 
    DT.97764994  DT.120724803  DT.91799575  DT.120724847  DT.92455900  DT.95244240  DT.120724830  DT.100788034 
    DT.120724870  DT.100788043  DT.120724857  DT.120724873  DT.87079500  DT.95244243  DT.95244254  DT.100788042 

    Selected AceView cDNA sequences (see all 676):

    AA191412 BI764893 AW969542 BG163596 AB000895 BI757298 BQ003496 AL547629 
    BQ682389 BM971099 BU622851 AA861148 BQ267771 AW590772 AW235673 AL543280 
    AA287327 BF966046 AI678796 H99523 BM310213 NM_000391 T54160 AB053446 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TPP1 (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e · 7f ·
    SP1:                    -     -     -                             -                                         -     -     -                                       
    SP2:                                                              -                                         -     -     -                                       
    SP3:                    -     -     -                             -           -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:                    -     -     -                       -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:                    -     -     -                             -                                   -     -     -     -                                       

    ExUns: 7g · 7h · 7i ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c
    SP1:                                            -                                                               
    SP2:                                            -                                                               
    SP3:  -     -     -     -     -     -     -     -     -     -                                                   
    SP4:  -     -     -     -     -     -     -     -     -     -                                                   
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for TPP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATGCTGAC
    TPP1 Expression
    About this image


    TPP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    TPP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523454

    UniProtKB/Swiss-Prot: TPP1_HUMAN, O14773
    Tissue specificity: Detected in all tissues examined with highest levels in heart and placenta and relatively
    similar levels in other tissues

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TPP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpp11 , 5 tripeptidyl peptidase I1, 5 86.42(n)1
    88.43(a)1
      7 (55.97 cM)5
    127511  NM_009906.51  NP_034036.11 
     1057448475 
    chicken
    (Gallus gallus)
    Aves TPP11 tripeptidyl peptidase I 64.7(n)
    63.18(a)
      425576  XM_423326.4  XP_423326.3 
    lizard
    (Anolis carolinensis)
    Reptilia TPP16
    tripeptidyl peptidase I
    52(a)
    1 ↔ 1
    GL344198.1(2428-26016)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239282 Xenopus laevis transcribed sequence with moderate similarity to protein spO14773 (H.sapiens) TPP1_HUMAN Tripeptidyl-peptidase I precursor (TPP-I) (Tripeptidyl aminopeptidase) (Lysosomal pepstatin insensitive protease) (LPIC) less 77.06(n)    BQ737450.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa01b092 wufa01b09 74.33(n)   334714  CA787388.1 


    ENSEMBL Gene Tree for TPP1 (if available)
    TreeFam Gene Tree for TPP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPP1 (see all 348)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219082021,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 untested16550573(-) AACCTC/TGGTGA 2 S L mis10--------
    rs1194559561,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 pathogenic16550657(-) TGGCCA/GTGCCT 2 H R mis10--------
    rs1219082001,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 untested16550843(-) TACCAG/CGTACG 2 /H /Q mis11Minor allele frequency- C:0.00NA 4548
    rs1194559541,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 pathogenic16551457(-) CGGGTA/GTTGGT 2 Y C mis10--------
    rs1194559531,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 pathogenic16551458(-) CCGGGC/TGTTGG 2 R C mis10--------
    rs1194559581,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 pathogenic16552090(-) TGCCAA/GCATCT 2 N S mis10--------
    rs1194559571,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 pathogenic16552096(-) TGCTGG/TTGCCA 2 G V mis10--------
    rs289405731,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 pathogenic16552446(-) TGATCC/TGTAAG 2 R C mis1 ese30--------
    rs1219082041,2,,4
    CCeroid lipofuscinosis, neuronal, 2 (CLN2)4 untested16553026(-) CATCCA/GGTGAG 2 Q R mis10--------
    VAR_0668854
    Ceroid lipofuscinosis, neuronal, 2 (CLN2)4--see VAR_0668852 R Q mis40--------

    HapMap Linkage Disequilibrium report for TPP1 (6633997 - 6640692 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TPP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv896972CNV Loss21882294
    nsv896971CNV Loss21882294
    nsv825755CNV Gain20364138

    Human Gene Mutation Database (HGMD): TPP1
    Locus Specific Mutation Databases (LSDB): TPP1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607998   
    OMIM disorders: 204500  609270  
    UniProtKB/Swiss-Prot: TPP1_HUMAN, O14773
  • Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]: A form of neuronal ceroid lipofuscinosis.
    Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by
    intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual
    loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for TPP1:    
    About MalaCards
    late-infantile neuronal ceroid lipofuscinosis    ceroid lipofuscinosis neuronal 2    visual epilepsy    spinocerebellar ataxia, autosomal recessive 7
    argininosuccinic aciduria    adult neuronal ceroid lipofuscinosis    neuronal ceroid lipofuscinosis    batten disease
    neuronal ceroid-lipofuscinoses

    2 diseases from the University of Copenhagen DISEASES database for TPP1:
    Neuronal ceroid lipofuscinosis     Visual epilepsy

    Find genes that share disorders with TPP1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TPP1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lincl 98.9 201 9097964 (5), 10737126 (5), 10762513 (4), 16052206 (4) (see all 60)
    neuronal ceroid lipofuscinoses 95.6 12 10428067 (1), 15719035 (1), 16869297 (1), 10191110 (1) (see all 10)
    batten disease 84.7 7 15158442 (1), 11504071 (1), 11579433 (1), 10446748 (1)
    lysosomal storage diseases 79.9 8 10470035 (1), 11445074 (1), 15158442 (1), 10762513 (1) (see all 6)
    neurodegenerative diseases 73.5 25 10428067 (1), 12608292 (1), 16091586 (1), 16869297 (1) (see all 16)
    neurodegeneration 49.2 6 15483130 (1), 16452657 (1), 11339651 (1), 11921051 (1) (see all 5)
    visual loss 34.7 1 16720047 (1)
    blindness 22.5 2 18344450 (1), 18850119 (1)
    developmental disabilities 15 2 11332767 (1), 11073228 (1)
    atrophy 12.7 4 11071145 (1), 11462245 (1), 11579433 (1)

    GeneTests: TPP1
    GeneReviews: TPP1
    Genetic Association Database (GAD): TPP1
    Human Genome Epidemiology (HuGE) Navigator: TPP1 (2 documents)

    Export disorders for TPP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TPP1 gene, integrated from 10 sources (see all 176):
    (articles sorted by number of sources associating them with TPP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. (PubMed id 9653647)1, 2, 3, 9 Liu C.-G.... Lobel P. (Genomics 1998)
    2. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 19201763)1, 2, 4 Kousi M....Lehesjoki A.-E. (Brain 2009)
    3. Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. (PubMed id 20340139)1, 2, 9 Walus M.... Golabek A.A. (Hum. Mutat. 2010)
    4. Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. (PubMed id 19038966)1, 2, 9 Pal A....Steinfeld R. (J. Biol. Chem. 2009)
    5. 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)1, 2, 9 Guhaniyogi J.... Lobel P. (J. Biol. Chem. 2009)
    6. The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. (PubMed id 11054422)1, 2, 9 Lin L.... Lobel P. (J. Biol. Chem. 2001)
    7. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. (PubMed id 12950156)1, 4, 9 BarisiA8 N....Blau N. (Croat. Med. J. 2003)
    8. 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)1, 2, 9 Lin L. and Lobel P. (Hum. Mutat. 2001)
    9. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. (PubMed id 11339651)1, 2, 9 Zhong N.... Brown W.T. (Genet. Med. 2000)
    10. Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation. (PubMed id 12698559)1, 2, 9 Bukina A.M.... Il'ina E.S. (Vopr. Med. Khim. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1200 HGNC: 2073 AceView: CLN2andDCHS1 Ensembl:ENSG00000166340 euGenes: HUgn1200
    ECgene: TPP1 Kegg: 1200 H-InvDB: TPP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPP1 Pharmacogenomics, SNPs, Pathways
    NCL CLN2http://www.ucl.ac.uk/ncl/cln2.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TPP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPP1 gene:
    Search GeneIP for patents involving TPP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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