Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PPT1 (palmitoyl-protein thioesterase 1)

Identity

Other namesCLN1
INCL
PPT
HGNC (Hugo) PPT1
LocusID (NCBI) 5538
Location 1p34.2
Location_base_pair Starts at 40538382 and ends at 40563142 bp from pter ( according to hg19-Feb_2009)
Note

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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PPT1   9325
Cards
Entrez_Gene (NCBI)PPT1  5538  palmitoyl-protein thioesterase 1
GeneCards (Weizmann)PPT1
Ensembl (Hinxton)ENSG00000131238 [Gene_View]  chr1:40538382-40563142 [Contig_View]  PPT1 [Vega]
ICGC DataPortalENSG00000131238
cBioPortalPPT1
AceView (NCBI)PPT1
Genatlas (Paris)PPT1
WikiGenes5538
SOURCE (Princeton)NM_000310 NM_001142604
Genomic and cartography
GoldenPath (UCSC)PPT1  -  1p34.2   chr1:40538382-40563142 -  1p34.2   [Description]    (hg19-Feb_2009)
EnsemblPPT1 - 1p34.2 [CytoView]
Mapping of homologs : NCBIPPT1 [Mapview]
OMIM256730   600722   
Gene and transcription
Genbank (Entrez)AK075496 AK301682 AK302232 AK310799 AK312287
RefSeq transcript (Entrez)NM_000310 NM_001142604
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_009192 NT_032977 NW_001838577 NW_004929290
Consensus coding sequences : CCDS (NCBI)PPT1
Cluster EST : UnigeneHs.3873 [ NCBI ]
CGAP (NCI)Hs.3873
Alternative Splicing : Fast-db (Paris)GSHG0002010
Alternative Splicing GalleryENSG00000131238
Gene ExpressionPPT1 [ NCBI-GEO ]     PPT1 [ SEEK ]   PPT1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50897 (Uniprot)
NextProtP50897  [Medical]
With graphics : InterProP50897
Splice isoforms : SwissVarP50897 (Swissvar)
Catalytic activity : Enzyme3.1.2.22 [ Enzyme-Expasy ]   3.1.2.223.1.2.22 [ IntEnz-EBI ]   3.1.2.22 [ BRENDA ]   3.1.2.22 [ KEGG ]   
Domains : Interpro (EBI)AB_hydrolase [organisation]   Palm_thioest [organisation]  
Related proteins : CluSTrP50897
Domain families : Pfam (Sanger)Palm_thioest (PF02089)   
Domain families : Pfam (NCBI)pfam02089   
DMDM Disease mutations5538
Blocks (Seattle)P50897
PDB (SRS)3GRO   
PDB (PDBSum)3GRO   
PDB (IMB)3GRO   
PDB (RSDB)3GRO   
Human Protein AtlasENSG00000131238 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP50897
HPRD07203
IPIIPI00002412   IPI00514248   IPI00514424   IPI01018677   IPI00980279   IPI00908718   IPI00514996   IPI00981416   IPI00981742   IPI00981623   
Protein Interaction databases
DIP (DOE-UCLA)P50897
IntAct (EBI)P50897
FunCoupENSG00000131238
BioGRIDPPT1
InParanoidP50897
Interologous Interaction database P50897
IntegromeDBPPT1
STRING (EMBL)PPT1
Ontologies - Pathways
Ontology : AmiGOprotein depalmitoylation  protein depalmitoylation  extracellular region  extracellular region  extracellular space  nucleus  lysosome  lysosome  Golgi apparatus  cytosol  apoptotic DNA fragmentation  receptor-mediated endocytosis  pinocytosis  lysosomal lumen acidification  neurotransmitter secretion  nervous system development  brain development  visual perception  grooming behavior  synaptic vesicle  associative learning  adult locomotory behavior  palmitoyl-(protein) hydrolase activity  palmitoyl-(protein) hydrolase activity  palmitoyl-(protein) hydrolase activity  protein transport  membrane  lipid catabolic process  palmitoyl-CoA hydrolase activity  palmitoyl-CoA hydrolase activity  sphingolipid catabolic process  protein catabolic process  negative regulation of cell growth  axon  dendrite  membrane raft organization  regulation of phospholipase A2 activity  neuronal cell body  negative regulation of apoptotic process  negative regulation of neuron apoptotic process  cellular protein catabolic process  membrane raft  positive regulation of receptor-mediated endocytosis  positive regulation of pinocytosis  neuron development  regulation of synapse structure and activity  cofactor transport  cofactor metabolic process  extracellular vesicular exosome  
Ontology : EGO-EBIprotein depalmitoylation  protein depalmitoylation  extracellular region  extracellular region  extracellular space  nucleus  lysosome  lysosome  Golgi apparatus  cytosol  apoptotic DNA fragmentation  receptor-mediated endocytosis  pinocytosis  lysosomal lumen acidification  neurotransmitter secretion  nervous system development  brain development  visual perception  grooming behavior  synaptic vesicle  associative learning  adult locomotory behavior  palmitoyl-(protein) hydrolase activity  palmitoyl-(protein) hydrolase activity  palmitoyl-(protein) hydrolase activity  protein transport  membrane  lipid catabolic process  palmitoyl-CoA hydrolase activity  palmitoyl-CoA hydrolase activity  sphingolipid catabolic process  protein catabolic process  negative regulation of cell growth  axon  dendrite  membrane raft organization  regulation of phospholipase A2 activity  neuronal cell body  negative regulation of apoptotic process  negative regulation of neuron apoptotic process  cellular protein catabolic process  membrane raft  positive regulation of receptor-mediated endocytosis  positive regulation of pinocytosis  neuron development  regulation of synapse structure and activity  cofactor transport  cofactor metabolic process  extracellular vesicular exosome  
Pathways : KEGGFatty acid elongation    Lysosome   
Protein Interaction DatabasePPT1
Wikipedia pathwaysPPT1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PPT1
snp3D : Map Gene to Disease5538
SNP (GeneSNP Utah)PPT1
SNP : HGBasePPT1
Genetic variants : HAPMAPPPT1
Exome VariantPPT1
1000_GenomesPPT1 
ICGC programENSG00000131238 
Somatic Mutations in Cancer : COSMICPPT1 
CONAN: Copy Number AnalysisPPT1 
Mutations and Diseases : HGMDPPT1
Genomic VariantsPPT1  PPT1 [DGVbeta]
dbVarPPT1
ClinVarPPT1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM256730    600722   
MedgenPPT1
GENETestsPPT1
Disease Genetic AssociationPPT1
Huge Navigator PPT1 [HugePedia]  PPT1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePPT1
Homology/Alignments : Family Browser (UCSC)PPT1
Phylogenetic Trees/Animal Genes : TreeFamPPT1
Chemical/Protein Interactions : CTD5538
Chemical/Pharm GKB GenePA33688
Clinical trialPPT1
Cancer Resource (Charite)ENSG00000131238
Other databases
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
CoreMinePPT1
iHOPPPT1
OncoSearchPPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:11:04 CEST 2014

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