PPT1 (palmitoyl-protein thioesterase 1)

2007-02-01  

Identity

HGNC
PPT1
LOCATION
1p34.2
LOCUSID
5538
ALIAS
CLN1,INCL,PPT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5538
MIM: 600722
HGNC: 9325
Ensembl: ENSG00000131238

Variants:

dbSNP: 5538
ClinVar: 5538
TCGA: ENSG00000131238
COSMIC: PPT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131238ENST00000372779E9PMG2
ENSG00000131238ENST00000433473A0A2C9F2P4
ENSG00000131238ENST00000439754Q5T0S4
ENSG00000131238ENST00000449045P50897
ENSG00000131238ENST00000526547E9PP28
ENSG00000131238ENST00000527311E9PIA8
ENSG00000131238ENST00000529905P50897
ENSG00000131238ENST00000530076E9PSE5
ENSG00000131238ENST00000530704E9PK48
ENSG00000131238ENST00000641083A0A286YFL8
ENSG00000131238ENST00000641319A0A286YFE3
ENSG00000131238ENST00000641381A0A286YFL6
ENSG00000131238ENST00000641471A0A286YFF7
ENSG00000131238ENST00000641548A0A286YEP3
ENSG00000131238ENST00000641691A0A286YEP3
ENSG00000131238ENST00000641924A0A286YF39
ENSG00000131238ENST00000642050P50897

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid elongationKEGGhsa00062
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
371034692023Identification of PPT1 as a lysosomal core gene with prognostic value in hepatocellular carcinoma.1
371034692023Identification of PPT1 as a lysosomal core gene with prognostic value in hepatocellular carcinoma.1
360880802022Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL).2
360880802022Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL).2
335611342021Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.0
335611342021Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.0
304427092019PPT1 Promotes Tumor Growth and Is the Molecular Target of Chloroquine Derivatives in Cancer.116
304427092019PPT1 Promotes Tumor Growth and Is the Molecular Target of Chloroquine Derivatives in Cancer.116
296316172018Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.14
305414662018Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.6
296316172018Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.14
305414662018Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.6
283348712017Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.9
288998632017A Unified Approach to Targeting the Lysosome's Degradative and Growth Signaling Roles.108
289786462017Lactate-mediated mitoribosomal defects impair mitochondrial oxidative phosphorylation and promote hepatoma cell invasiveness.42

Citation

Dessen P

PPT1 (palmitoyl-protein thioesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46009/ppt1-(palmitoyl-protein-thioesterase-1)