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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TPP1 Gene

protein-coding   GIFtS: 62
GCID: GC11M006634

tripeptidyl peptidase I

(Previous names: ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky...)
(Previous symbol: CLN2)
 Explore 24 diseases affiliated with
TPP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TPP1    

Aliases
for TPP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Tripeptidyl Peptidase I1 2     Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky Disease)1
CLN21 2 3 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

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


Summaries
for TPP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TPP1:
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)

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)


Genomic Views
for TPP1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TPP1 gene promoter:
         CRE-BP1   HOXA5   ATF-2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TPP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TPP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TPP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Lysosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I
to stage IV
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

Post-translational modifications:

  • Activated by autocatalytic proteolytical processing upon acidification. N-glycosylation is required for processing and
    • activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14773

    • 4/26 DME Specific Peptides for TPP1 (O14773) (see all 26)
     GCHESCL  GLHRFPP  RQRPEPQ  YGKYLTLE 

    TPP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000382.3  
    ENSEMBL proteins: 
     ENSP00000299427   ENSP00000437066   ENSP00000398136   ENSP00000434647   ENSP00000435001  
    Reactome Protein details: O14773
    Human Recombinant Protein Products: 
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    Novus Biologicals TPP1 Proteins
    Novus Biologicals TPP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TPP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome IMP9295267
    GO:0042470melanosome IEA--
    GO:0043202lysosomal lumen TAS--


    TPP1 for ontologies           About GeneDecksing



    TPP1 Antibody Products: 
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    ThermoFisher Antibody for TPP1

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    Uscn ELISAs and CLIAs for TPP1

    Protein Domains /
    Families
    for TPP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TPP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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: Belongs to the peptidase S53 family


    Function
    for TPP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

    miRNA
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    8/36 QIAGEN miScript miRNA 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 plasmid: TPP1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: TPP1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TPP1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TPP1

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (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


    TPP1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for TPP1: Tpp1tm1.2Tdl Tpp1tm1Plob
         13 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Tpp1):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  integument  mortality/aging  nervous system 
     pigmentation  respiratory system  tumorigenesis 

    TPP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TPP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperone Genes by XBP1(S)1.00
    		Unfolded Protein Response0.71
    		Activation of Chaperones by IRE1alpha0.94
    2Expression of TPP1
    		Expression of TPP11.00
    3Lysosome
    		Lysosome1.00
    4Asparagine N-linked glycosylation
    		Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for TPP1
        Activation of Chaperone Genes by XBP1(S)
    Expression of TPP1
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response


    1         Kegg Pathway  (Kegg details for TPP1):
        Lysosome


    TPP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPP1

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

    5/56 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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


    TPP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TPP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about TPP1 

    Transcripts
    for TPP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/36 QIAGEN miScript miRNA 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 plasmid: TPP1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/32 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 

    24/676 AceView cDNA sequences (see all 676):

    AA287327 AW016909 AW026380 BC014863 AI760515 CA748731 BQ876325 AA191412 
    BF980980 AA365464 BE645473 AA298168 AI678796 BM505545 BI056171 AA234959 
    H99523 AA001907 BU185308 BE467712 AI215194 AI242164 CB216751 AI492550 

    GeneLoc Exon Structure

    5/19 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

    Expression
    for TPP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATGCTGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TPP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TPP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TPP1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including TPP1: 
              Telomeres & Telomerase in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for TPP1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for TPP1 gene from 5/18 species (see all 18)    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 65.14(n)
    63.47(a)    		   425576  XM_423326.3  XP_423326.3 
    lizard
    (Anolis carolinensis)    		 Reptilia TPP16
    		 --
    		 52(a)
    		 1 ↔ 1
    		 GL344198.1(2428-26016)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.239282 Xenopus laevis transcribed sequence with moderate similarity more 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
    for TPP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for TPP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/248 NCBI SNPs in TPP1 are shown (see all 248)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1194559561,2
    		Cpathogenic6295419(-) TGGCCA/GTGCCT 2 H R mis10--------
    rs1194559541,2
    		Cpathogenic6296219(-) CGGGTA/GTTGGT 2 Y C mis10--------
    rs1194559531,2
    		Cpathogenic6296220(-) CCGGGC/TGTTGG 2 R C mis10--------
    rs1194559581,2
    		Cpathogenic6296852(-) TGCCAA/GCATCT 2 N S mis10--------
    rs1194559571,2
    		Cpathogenic6296858(-) TGCTGG/TTGCCA 2 G V mis10--------
    rs1194559551,2
    		C,Fpathogenic6297202(-) GTAAGC/TGATAC 2 R * stg11Minor allele frequency- T:0.00NA 4548
    rs289405731,2
    		Cpathogenic6297208(-) TGATCC/TGTAAG 2 R C mis1 ese32Minor allele frequency- T:0.00NA 4
    rs1219082021,2
    		C,untested6295335(-) AACCTC/TGGTGA 2 S L mis10--------
    rs1219082001,2
    		Cuntested6295605(-) TACCAG/CGTACG 2 /H /Q mis11Minor allele frequency- C:0.00NA 4548
    rs18007461,2
    		C,F,H,untested6297869(-) GGTGCA/GAAAAT 2 Q R mis110Minor allele frequency- G:0.01NS EA NA WA EU 6799

    HapMap Linkage Disequilibrium report for TPP1 (6633997 - 6640692 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TPP1: --
    Human Gene Mutation Database (HGMD): TPP1

    Locus Specific Mutation Databases (LSDB): TPP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TPP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPP1

    Disorders / Diseases
    for TPP1 gene

    (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.)
    About This Section
    TPP1 for disorders           About GeneDecksing

    OMIM gene information: 607998   
    OMIM disorders: 204500  
    UniProtKB/Swiss-Prot: TPP1_HUMAN, O14773
  • Defects in TPP1 are the cause of neuronal ceroid lipofuscinosis type 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

    20/24 diseases for TPP1 (see all 24):    About MalaCards
    ceroid lipofuscinosis    ceroid lipofuscinosis neuronal 2    neuronal ceroid-lipofuscinosis    ceroid-lipofuscinosis, neuronal 2, classic late infantile
    neuronal ceroid-lipofuscinoses    neuronitis    lysosomal storage disease    myoclonus epilepsy
    developmental disabilities    progressive myoclonus epilepsy    batten disease    myoclonus
    brain injury    neurodegenerative disease    cerebral atrophy    sjogren's syndrome
    seizures    neurodegeneration    blindness    cerebritis

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

    10/12 Novoseek 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
    Neuronal Ceroid-Lipofuscinoses

    Human Genome Epidemiology (HuGE) Navigator: TPP1 (2 documents)

    Export disorders for TPP1 gene to outside databases

    Publications
    for TPP1 gene

    (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)
    About This Section

    PubMed articles for TPP1 gene, integrated from 9 sources (see all 166):
    (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. (1998)
    2. Functional consequences and rescue potential of patho genic missense mutations in tripeptidyl peptidase I. (PubMed id 20340139)1, 2, 9 Walus M....Golabek A.A. (2010)
    3. 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. (2009)
    4. 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. (2009)
    5. 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. (2001)
    6. 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. (2001)
    7. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. (PubMed id 11339651)1, 2, 9 Zhong N.... Brown W.T. (2000)
    8. Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation. (PubMed id 12698559)1, 2, 9 Bukina A.M.... Il'ina E.S. (2002)
    9. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. (PubMed id 14736728)1, 2, 9 Tsiakas K....Braulke T. (2004)
    10. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 19201763)1, 2 Kousi M....Lehesjoki A.-E. (2009)

    External Searches for TPP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TPP1 gene

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

    Other Databases showing TPP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TPP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TPP1 Pharmacogenomics, SNPs, Pathways
    NCL CLN2http://www.ucl.ac.uk/ncl/cln2.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPP1

    Intellectual Property
    for TPP1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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