ENSG00000131238


Homo sapiens

Features
Gene ID: ENSG00000131238
  
Biological name :PPT1
  
Synonyms : P50897 / palmitoyl-protein thioesterase 1 / PPT1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p34.2
Gene start: 40071461
Gene end: 40097727
  
Corresponding Affymetrix probe sets: 200975_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000403207
Ensembl peptide - ENSP00000493369
Ensembl peptide - ENSP00000493359
Ensembl peptide - ENSP00000493153
Ensembl peptide - ENSP00000493146
Ensembl peptide - ENSP00000493128
Ensembl peptide - ENSP00000493063
Ensembl peptide - ENSP00000492984
Ensembl peptide - ENSP00000492910
Ensembl peptide - ENSP00000436695
Ensembl peptide - ENSP00000436481
Ensembl peptide - ENSP00000434007
Ensembl peptide - ENSP00000432053
Ensembl peptide - ENSP00000431655
Ensembl peptide - ENSP00000361865
Ensembl peptide - ENSP00000392293
Ensembl peptide - ENSP00000394863
NCBI entrez gene - 5538     See in Manteia.
OMIM - 600722
RefSeq - NM_001142604
RefSeq - NM_000310
RefSeq - XM_005271008
RefSeq Peptide - NP_000301
RefSeq Peptide - NP_001136076
swissprot - A0A286YFL8
swissprot - A0A286YFL6
swissprot - A0A286YFF7
swissprot - A0A286YFE3
swissprot - E9PSE5
swissprot - A0A286YEP3
swissprot - P50897
swissprot - Q5T0S4
swissprot - A0A286YF39
swissprot - E9PP28
swissprot - E9PMG2
swissprot - E9PK48
swissprot - E9PIA8
swissprot - A0A2C9F2P4
Ensembl - ENSG00000131238
  
Related genetic diseases (OMIM): 256730 - Ceroid lipofuscinosis, neuronal, 1, 256730
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ppt1ENSDARG00000039980Danio rerio
 PPT1ENSGALG00000003936Gallus gallus
 Ppt1ENSMUSG00000028657Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PPT2 / Q9UMR5 / palmitoyl-protein thioesterase 2ENSG0000022198823
PPT2-EGFL8 / PPT2-EGFL8 readthrough (NMD candidate)ENSG0000025838822


Protein motifs (from Interpro)
Interpro ID Name
 IPR002472  Palmitoyl protein thioesterase
 IPR029058  Alpha/Beta hydrolase fold
 IPR030294  Palmitoyl-protein thioesterase 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002084 protein depalmitoylation IEA
 biological_processGO:0006898 receptor-mediated endocytosis IMP
 biological_processGO:0006907 pinocytosis IMP
 biological_processGO:0007040 lysosome organization IEA
 biological_processGO:0007042 lysosomal lumen acidification IMP
 biological_processGO:0007268 chemical synaptic transmission IBA
 biological_processGO:0007269 neurotransmitter secretion IEA
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0007420 brain development IMP
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007625 grooming behavior IEA
 biological_processGO:0008306 associative learning IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0015031 protein transport IMP
 biological_processGO:0016042 lipid catabolic process IDA
 biological_processGO:0030149 sphingolipid catabolic process TAS
 biological_processGO:0030163 protein catabolic process NAS
 biological_processGO:0030308 negative regulation of cell growth IMP
 biological_processGO:0031579 membrane raft organization IMP
 biological_processGO:0032429 regulation of phospholipase A2 activity IEA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IMP
 biological_processGO:0044257 cellular protein catabolic process IEA
 biological_processGO:0044265 cellular macromolecule catabolic process IEA
 biological_processGO:0046949 fatty-acyl-CoA biosynthetic process TAS
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IMP
 biological_processGO:0048549 positive regulation of pinocytosis IMP
 biological_processGO:0048666 neuron development TAS
 biological_processGO:0050803 regulation of synapse structure or activity NAS
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051181 cofactor transport IMP
 biological_processGO:0051186 cofactor metabolic process IMP
 cellular_componentGO:0005576 extracellular region ISS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005764 lysosome ISS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0008021 synaptic vesicle IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043202 lysosomal lumen TAS
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008474 palmitoyl-(protein) hydrolase activity IEA
 molecular_functionGO:0016290 palmitoyl-CoA hydrolase activity ISS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0098599 palmitoyl hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Fatty acyl-CoA biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000253 Microcephaly, progressive "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators]
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 HP:0000529 Progressive visual loss 
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 HP:0000550 Abolished electroretinogram (ERG) 
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 HP:0000608 Macular degeneration 
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 HP:0000618 Blindness 
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 HP:0000648 Optic atrophy 
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 HP:0000654 Decreased electroretinogram (ERG) 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000737 Irritability 
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 HP:0000738 Hallucinations 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001939 Metabolism abnormality 
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 HP:0002059 Cerebral atrophy 
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 HP:0002074 Autofluorescent lipopigment in neurons 
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002361 Psychomotor degeneration 
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 HP:0002371 Loss of speech 
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 HP:0003674 Age of onset 
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 HP:0005484 Microcephaly, postnatal 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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