Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PPT1 (palmitoyl-protein thioesterase 1)

Identity

Other namesCLN1
INCL
PPT
HGNC (Hugo) PPT1
LocusID (NCBI) 5538
Atlas_Id 46009
Location 1p34.2
Location_base_pair Starts at 40538382 and ends at 40563142 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MICAL3 (22q11.21) / PPT1 (1p34.2)PPT1 (1p34.2) / BCL2L1 (20q11.21)RLF (1p34.2) / PPT1 (1p34.2)
SCMH1 (1p34.2) / PPT1 (1p34.2)SCMH1 1p34.2 / PPT1 1p34.2

Note

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

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Small Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)PPT1   9325
Cards
Entrez_Gene (NCBI)PPT1  5538  palmitoyl-protein thioesterase 1
GeneCards (Weizmann)PPT1
Ensembl hg19 (Hinxton)ENSG00000131238 [Gene_View]  chr1:40538382-40563142 [Contig_View]  PPT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131238 [Gene_View]  chr1:40538382-40563142 [Contig_View]  PPT1 [Vega]
ICGC DataPortalENSG00000131238
TCGA cBioPortalPPT1
AceView (NCBI)PPT1
Genatlas (Paris)PPT1
WikiGenes5538
SOURCE (Princeton)PPT1
Genomic and cartography
GoldenPath hg19 (UCSC)PPT1  -     chr1:40538382-40563142 -  1p34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PPT1  -     1p34.2   [Description]    (hg38-Dec_2013)
EnsemblPPT1 - 1p34.2 [CytoView hg19]  PPT1 - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBIPPT1 [Mapview hg19]  PPT1 [Mapview hg38]
OMIM256730   600722   
Gene and transcription
Genbank (Entrez)AK075496 AK301682 AK302232 AK310799 AK312287
RefSeq transcript (Entrez)NM_000310 NM_001142604
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_009192 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)PPT1
Cluster EST : UnigeneHs.3873 [ NCBI ]
CGAP (NCI)Hs.3873
Alternative Splicing GalleryENSG00000131238
Gene ExpressionPPT1 [ NCBI-GEO ]   PPT1 [ EBI - ARRAY_EXPRESS ]   PPT1 [ SEEK ]   PPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5538
GTEX Portal (Tissue expression)PPT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50897 (Uniprot)
NextProtP50897  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP50897
Domains : Interpro (EBI)AB_hydrolase    Palm_thioest    PPT1   
Domain families : Pfam (Sanger)Palm_thioest (PF02089)   
Domain families : Pfam (NCBI)pfam02089   
DMDM Disease mutations5538
Blocks (Seattle)PPT1
PDB (SRS)3GRO   
PDB (PDBSum)3GRO   
PDB (IMB)3GRO   
PDB (RSDB)3GRO   
Structural Biology KnowledgeBase3GRO   
SCOP (Structural Classification of Proteins)3GRO   
CATH (Classification of proteins structures)3GRO   
SuperfamilyP50897
Human Protein AtlasENSG00000131238
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
STRING (EMBL)PPT1
ZODIACPPT1
Ontologies - Pathways
QuickGOP50897
Ontology : AmiGOprotein depalmitoylation  protein depalmitoylation  extracellular region  extracellular region  extracellular space  nucleus  lysosome  lysosome  Golgi apparatus  cytosol  receptor-mediated endocytosis  pinocytosis  lysosomal lumen acidification  synaptic transmission  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  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  long-chain fatty-acyl-CoA biosynthetic process  neuronal cell body  negative regulation of apoptotic process  lysosomal lumen  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 or activity  response to stimulus  cofactor transport  cofactor metabolic process  extracellular exosome  
Ontology : EGO-EBIprotein depalmitoylation  protein depalmitoylation  extracellular region  extracellular region  extracellular space  nucleus  lysosome  lysosome  Golgi apparatus  cytosol  receptor-mediated endocytosis  pinocytosis  lysosomal lumen acidification  synaptic transmission  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  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  long-chain fatty-acyl-CoA biosynthetic process  neuronal cell body  negative regulation of apoptotic process  lysosomal lumen  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 or activity  response to stimulus  cofactor transport  cofactor metabolic process  extracellular exosome  
Pathways : KEGGFatty acid elongation    Lysosome   
NDEx Network
Atlas of Cancer Signalling NetworkPPT1
Wikipedia pathwaysPPT1
Orthology - Evolution
OrthoDB5538
GeneTree (enSembl)ENSG00000131238
Phylogenetic Trees/Animal Genes : TreeFamPPT1
Homologs : HomoloGenePPT1
Homology/Alignments : Family Browser (UCSC)PPT1
Gene fusions - Rearrangements
Fusion: TCGASCMH1 1p34.2 PPT1 1p34.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPT1
dbVarPPT1
ClinVarPPT1
1000_GenomesPPT1 
Exome Variant ServerPPT1
ExAC (Exome Aggregation Consortium)PPT1 (select the gene name)
Genetic variants : HAPMAP5538
Genomic Variants (DGV)PPT1 [DGVbeta]
Mutations
ICGC Data PortalPPT1 
TCGA Data PortalPPT1 
Broad Tumor PortalPPT1
OASIS PortalPPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPT1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PPT1
DgiDB (Drug Gene Interaction Database)PPT1
DoCM (Curated mutations)PPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPT1 (select a term)
intoGenPPT1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:40538382-40563142  ENSG00000131238
CONAN: Copy Number AnalysisPPT1 
Mutations and Diseases : HGMDPPT1
OMIM256730    600722   
MedgenPPT1
Genetic Testing Registry PPT1
NextProtP50897 [Medical]
TSGene5538
GENETestsPPT1
Huge Navigator PPT1 [HugePedia]
snp3D : Map Gene to Disease5538
BioCentury BCIQPPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5538
Chemical/Pharm GKB GenePA33688
Clinical trialPPT1
Miscellaneous
canSAR (ICR)PPT1 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPT1
EVEXPPT1
GoPubMedPPT1
iHOPPPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun May 8 19:01:39 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.