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PPT1 Gene

protein-coding   GIFtS: 68
GCID: GC01M040567

Palmitoyl-Protein Thioesterase 1


(Previous symbol: PPT)
  See 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
Palmitoyl-Protein Thioesterase 11 2     infantile1
PPT1 2 3     Neuronal 11
Palmitoyl-Protein Hydrolase 12 3     INCL2
EC 3.1.2.223 8     Ceroid-Palmitoyl-Palmitoyl-Protein Thioesterase 12
CLN12 5     PPT-13
ceroid-lipofuscinosis1     

External Ids:    HGNC: 93251   Entrez Gene: 55382   Ensembl: ENSG000001312387   OMIM: 6007225   UniProtKB: P508973   

Export aliases for PPT1 gene to outside databases

Previous GC identifers: GC01M039541 GC01M040001 GC01M039951 GC01M040207 GC01M040310 GC01M038656


(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 PPT1 Gene:
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins
during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate
from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or
INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been
found for this gene.(provided by RefSeq, Dec 2008)

GeneCards Summary for PPT1 Gene:
PPT1 (palmitoyl-protein thioesterase 1) is a protein-coding gene. Diseases associated with PPT1 include ceroid lipofuscinosis neuronal 1, and abnormal retinal correspondence. GO annotations related to this gene include palmitoyl-(protein) hydrolase activity and palmitoyl-CoA hydrolase activity. An important paralog of this gene is PPT2-EGFL8.

UniProtKB/Swiss-Prot: PPT1_HUMAN, P50897
Function: Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins
or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons

Gene Wiki entry for PPT1 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPT1 gene promoter:
         Tal-1   AP-1   ATF-2   c-Jun   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPT1 promoter sequence
   Search Chromatin IP Primers for PPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPT1


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

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p32

PPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPT1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M040567:  view genomic region     (about GC identifiers)

Start:
40,538,379 bp from pter      End:
40,563,375 bp from pter
Size:
24,997 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: PPT1_HUMAN, P50897 (See protein sequence)
Recommended Name: Palmitoyl-protein thioesterase 1 precursor  
Size: 306 amino acids; 34193 Da
1 PDB 3D structure from and Proteopedia for PPT1:
3GRO (3D)    
Secondary accessions: B4DY24 Q6FGQ4
Alternative splicing: 2 isoforms:  P50897-1   P50897-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPT1: NX_P50897

Explore proteomics data for PPT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys174, Lys253
  • Glycosylation2 at Asn197, Asn212, Asn232
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PPT1 (P50897) (see all 8)
     SIFLADIN  CCNPLSMG  KDPKLQQGYNA  SVGGQHQGVFG 


    See PPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000301.1  NP_001136076.1  

    ENSEMBL proteins: 
     ENSP00000394863   ENSP00000432053   ENSP00000431655   ENSP00000392293   ENSP00000403207  
     ENSP00000434007   ENSP00000436695   ENSP00000361865   ENSP00000436481  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002472 Palm_thioest

    Graphical View of Domain Structure for InterPro Entry P50897

    ProtoNet protein and cluster: P50897

    1 Blocks protein domain: IPB002472 Palmitoyl protein thioesterase signature

    UniProtKB/Swiss-Prot: PPT1_HUMAN, P50897
    Similarity: Belongs to the palmitoyl-protein thioesterase family


    PPT1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPT1_HUMAN, P50897
    Function: Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins
    or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons
    Catalytic activity: Palmitoyl-[protein] + H(2)O = palmitate + [protein]

         Enzyme Number (IUBMB): EC 3.1.2.221 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008474palmitoyl-(protein) hydrolase activity ISS--
    GO:0016290palmitoyl-CoA hydrolase activity ISS--
         
    PPT1 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ppt1):
     behavior/neurological  craniofacial  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  renal/urinary system 
     skeleton  vision/eye 

    PPT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PPT1: Ppt1tm1Hof Ppt1tm1Aj

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    miRTarBase miRNAs that target PPT1:
    hsa-mir-29c-3p (MIRT044242), hsa-mir-15b-5p (MIRT046542), hsa-mir-26b-5p (MIRT029493), hsa-mir-320a (MIRT044818), hsa-mir-339-5p (MIRT042764), hsa-mir-29a-3p (MIRT049981), hsa-mir-16-5p (MIRT031707)

    Block miRNA regulation of human, mouse, rat PPT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PPT1 (see all 14):
    hsa-miR-21* hsa-miR-125a-5p hsa-miR-4272 hsa-miR-606 hsa-miR-33a hsa-miR-421 hsa-miR-3159 hsa-miR-4253
    SwitchGear 3'UTR luciferase reporter plasmidPPT1 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for PPT1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPT1


    (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
    PPT1_HUMAN, P50897: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus5
    lysosome5
    nucleus5
    vacuole5
    cytosol4
    endoplasmic reticulum1
    endosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ISS--
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IDA10992246
    GO:0005764lysosome ISS--
    GO:0005794Golgi apparatus IDA7637805

    PPT1 for ontologies           About GeneDecksing


    (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 PPT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid metabolism
    Fatty acid metabolism0.42
    2Metabolism
    Metabolic pathways0.38
    3Biosynthesis of unsaturated fatty acids
    Fatty acid elongation0.38
    4Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    4 Kegg Pathways  (Kegg details for PPT1):
        Fatty acid elongation
    Metabolic pathways
    Fatty acid metabolism
    Lysosome


    PPT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PPT1
    Interactions:

        Search GeneGlobe Interaction Network for PPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for PPT1 (P508973 ENSP000003948634) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    GRID2O434243I2D: score=1 
    PDPK1O155303I2D: score=1 
    SLC2A4P146723I2D: score=1 
    MECRENSP000002637024STRING: ENSP00000263702
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002084protein depalmitoylation ISS--
    GO:0006309apoptotic DNA fragmentation IDA15929065
    GO:0006464cellular protein modification process ----
    GO:0006898receptor-mediated endocytosis IMP16542649
    GO:0006907pinocytosis IMP16542649

    PPT1 for ontologies           About GeneDecksing



    (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 PPT1

    4 HMDB Compounds for PPT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--
    Palmityl-CoAPalmityl-CoA (see all 13)1763-10-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for PPT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-Hexadecylsulfonyl Fluoride-- --target--17139284 17016423 10592235
    Palmitic Acid1-Hexyldecanoic Acid (see all 11)57-10-3target--17139284 17016423 10592235

    9 Novoseek inferred chemical compound relationships for PPT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 63.8 3 9151310 (1), 11332777 (1), 11673581 (1)
    c2ceramide 60.5 7 15929065 (2), 11020216 (2), 11589008 (2), 10737604 (1)
    palmitate 56 11 16368712 (1), 8633062 (1), 10658183 (1), 10781062 (1) (see all 9)
    cysteine 35.9 12 10679943 (1), 10801859 (1), 11332777 (1), 10658183 (1) (see all 8)
    etoposide 12.7 3 11020216 (1), 12359364 (1), 11589008 (1)
    adriamycin 9.02 1 11589008 (1)
    atp 0 3 9160164 (2)
    lipid 0 1 9108318 (1)
    serine 0 4 10801859 (2), 7925273 (1)



    PPT1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PPT1 gene (2 alternative transcripts): 
    NM_000310.3  NM_001142604.1  

    Unigene Cluster for PPT1:

    Palmitoyl-protein thioesterase 1
    Hs.3873  [show with all ESTs]
    Unigene Representative Sequence: NM_000310
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433473(uc010ojf.1 uc001cfb.2 uc010ojg.1 uc009vwa.2)
    ENST00000529905 ENST00000530704 ENST00000372775 ENST00000449045 ENST00000439754
    ENST00000530076 ENST00000527311 ENST00000372779 ENST00000526547
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PPT1 (see all 14):
    hsa-miR-21* hsa-miR-125a-5p hsa-miR-4272 hsa-miR-606 hsa-miR-33a hsa-miR-421 hsa-miR-3159 hsa-miR-4253
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK075496.1 AK301682.1 AK302232.1 AK310799.1 AK312287.1 BC008426.1 CR542053.1 U44772.1 

    Selected DOTS entries (see all 39):

    DT.100823485  DT.101962240  DT.95206322  DT.100823478  DT.100823484  DT.100823486  DT.100034366  DT.102842148 
    DT.121410214  DT.121410264  DT.100705154  DT.95073508  DT.121410231  DT.100823490  DT.121410217  DT.121410166 
    DT.121410093  DT.121410196  DT.121410210  DT.100823482  DT.121410033  DT.100823479  DT.121410115  DT.121410227 

    Selected AceView cDNA sequences (see all 715):

    BM480339 BM698254 CR599400 CB161729 BG534413 BQ708170 AV715943 BG395132 
    AL118816 Z43159 BX645757 BG249025 AW513125 BE542533 AI301297 BU741988 
    AW074227 CK430023 CA489652 BU195589 CD675725 BU176827 BX445998 BU145416 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PPT1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11
    SP1:                                      -                                                         
    SP2:                                      -                       -                                 
    SP3:                                                                                                
    SP4:        -     -     -     -     -     -                                                         
    SP5:                                                                                                


    ECgene alternative splicing isoforms for PPT1

    (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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    PPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGTTTGGA
    PPT1 Expression
    About this image


    PPT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
     
     Kidney (Urinary System)
             Metanephros
     
     Ovary (Reproductive System)
             Oviduct
    PPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.3873
        Custom PCR Arrays for PPT1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPT1

    (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 eukaryotes.

    Orthologs for PPT1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppt11 , 5 palmitoyl-protein thioesterase 11, 5 85.03(n)1
    85.57(a)1
      4 (57.27 cM)5
    190631  NM_008917.31  NP_032943.21 
     1228362425 
    chicken
    (Gallus gallus)
    Aves PPT11 palmitoyl-protein thioesterase 1 72.3(n)
    72.64(a)
      419681  NM_001030903.1  NP_001026074.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPT16
    palmitoyl-protein thioesterase 1
    73(a)
    1 ↔ 1
    GL343498.1(198845-208372)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ppt11 palmitoyl-protein thioesterase 1 68.24(n)
    71.28(a)
      448650  NM_001006874.1  NP_001006875.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppt11 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, more 66.56(n)
    68.77(a)
      406648  NM_213339.1  NP_998504.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ppt11 , 3 palmitoyl-protein hydrolase3
    Palmitoyl-protein thioesterase 11
    55(a)3
    58.03(n)1
    55.84(a)1
      8A23
    318051  NM_167166.41  NP_727284.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ppt-11 , 3 palmitoyl-protein thioesterase
    precursor3
    ppt-11
    54(a)3
    56.29(n)1
    51.56(a)1
      V(6627377-6628821)3
    1917441  NM_072283.51  NP_504684.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G603401 AT3G60340 46.16(n)
    33.58(a)
      825205  NM_180397.2  NP_850728.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01011001 Os03g0101100 44.87(n)
    33.46(a)
      4331284  NM_001055185.1  NP_001048650.1 


    ENSEMBL Gene Tree for PPT1 (if available)
    TreeFam Gene Tree for PPT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPT1 gene
    PPT2-EGFL82  PPT22  
    4 SIMAP similar genes for PPT1 using alignment to 7 protein entries:     PPT1_HUMAN (see all proteins):
    C14orf178    FAM138C    B9D2    AREL1

    PPT1 for paralogs           About GeneDecksing



    (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 PPT1 (see all 711)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378526951,2,,4
    CCeroid lipofuscinosis, neuronal, 1 (CLN1)4 pathogenic140634678(-) GTAGGA/TGGGCA 3 R W int1 mis10--------
    VAR_0668804
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0668802 V G mis40--------
    VAR_0668784
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0668782 P R mis40--------
    VAR_0055484
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0055482 H Q mis40--------
    VAR_0055604
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0055602 G V mis40--------
    VAR_0668794
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0668792 L P mis40--------
    VAR_0055524
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0055522 Y D mis40--------
    VAR_0055514
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0055512 D G mis40--------
    VAR_0055574
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0055572 V M mis40--------
    VAR_0668764
    Ceroid lipofuscinosis, neuronal, 1 (CLN1)4--see VAR_0668762 C Y mis40--------

    HapMap Linkage Disequilibrium report for PPT1 (40538379 - 40563375 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PPT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747330CNV Deletion23290073
    esv2663819CNV Deletion23128226
    nsv10128CNV Loss18304495
    esv6823CNV Loss19470904
    dgv35n67CNV Loss20364138
    esv2750836CNV Gain17911159
    nsv829660CNV Gain+Loss17160897
    dgv49e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PPT1
    Locus Specific Mutation Databases (LSDB): PPT1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for PPT1

    (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: 600722   
    OMIM disorders: 256730  
    UniProtKB/Swiss-Prot: PPT1_HUMAN, P50897
  • Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]: A form of neuronal ceroid lipofuscinosis with
    variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. 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 CLN1 is referred to as granular osmiophilic deposits
    (GROD). Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PPT1 (see all 28):    
    About MalaCards
    ceroid lipofuscinosis neuronal 1    abnormal retinal correspondence    subclavian steal syndrome    neuronal ceroid-lipofuscinoses
    neuronal ceroid lipofuscinosis    adult neuronal ceroid lipofuscinosis    pthirus pubis infestation    batten disease
    late-infantile neuronal ceroid lipofuscinosis    cerebral atrophy    lysosomal storage disease    neuronitis
    hematopoietic stem cell transplantation    cerebritis    mental retardation    blindness
    retinitis    dementia    neuroblastoma    tonsillitis

    3 diseases from the University of Copenhagen DISEASES database for PPT1:
    Neuronal ceroid lipofuscinosis     Subclavian steal syndrome     Abnormal retinal correspondence

    PPT1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PPT1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    infantile neuronal ceroid lipofuscinosis 99 73 10416973 (2), 10781062 (2), 16601878 (2), 8786130 (2) (see all 43)
    neuronal ceroid lipofuscinoses 96.9 7 10992246 (2), 15719035 (1), 11001812 (1), 19431184 (1) (see all 5)
    lincl 94.6 14 11339651 (2), 15719035 (1), 9097964 (1), 11001811 (1) (see all 7)
    batten disease 89.4 10 15075260 (3), 8020979 (1), 16601878 (1), 20346914 (1) (see all 5)
    neurodegenerative diseases 74.9 25 11020216 (1), 19345705 (1), 19733542 (1), 9664077 (1) (see all 17)
    lysosomal storage diseases 71.4 2 11589008 (1), 9648881 (1)
    neurodegeneration 57.7 3 16571600 (1), 16368712 (1), 17565660 (1)
    enzyme deficiency 54.9 1 10649502 (1)
    visual loss 46.7 1 16720047 (1)
    mental retardation 20.5 1 11001811 (1)

    GeneTests: PPT1
    GeneReviews: PPT1
    Genetic Association Database (GAD): PPT1
    Human Genome Epidemiology (HuGE) Navigator: PPT1 (2 documents)

    Export disorders for PPT1 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)
    About This Section

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    PubMed articles for PPT1 gene, integrated from 10 sources (see all 160):
    (articles sorted by number of sources associating them with PPT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. (PubMed id 7637805)1, 2, 3 Vesa J.... Peltonen L. (Nature 1995)
    3. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. (PubMed id 8325646)1, 3, 9 Hellsten E....Peltonen L. (Genomics 1993)
    4. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (PubMed id 9425237)1, 2, 9 Mitchison H.M.... O'Rawe A.M. (Hum. Mol. Genet. 1998)
    5. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. (PubMed id 9664077)1, 2, 9 Das A.K.... Hofmann S.L. (J. Clin. Invest. 1998)
    6. cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis. (PubMed id 8786130)1, 2, 9 Schriner J.E.... Hofmann S.L. (Genomics 1996)
    7. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. (PubMed id 11506414)1, 2, 9 van Diggelen O.P....Voznyi Y.V. (Ann. Neurol. 2001)
    8. Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis. (PubMed id 8633062)1, 2, 9 Crews C.M.... Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    9. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (Psychiatry Res 2009)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 5538 HGNC: 9325 AceView: PPT1 Ensembl:ENSG00000131238 euGenes: HUgn5538
    ECgene: PPT1 Kegg: 5538 H-InvDB: PPT1

    (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 PPT1 Pharmacogenomics, SNPs, Pathways
    NCL CLN1http://www.ucl.ac.uk/ncl/cln1.shtml
    Mutations of the PPT1 genehttp://www.retina-international.org/files/sci-news/pptmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PPT1[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PPT1 gene:
    Search GeneIP for patents involving PPT1

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



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