PPT1 (palmitoyl-protein thioesterase 1)

2007-02-01 Affiliation

Identity

HGNC

PPT1

LOCATION

1p34.2

LOCUSID

5538

ALIAS

CLN1,INCL,PPT

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131238	ENST00000372779	E9PMG2
ENSG00000131238	ENST00000433473	A0A2C9F2P4
ENSG00000131238	ENST00000439754	Q5T0S4
ENSG00000131238	ENST00000449045	P50897
ENSG00000131238	ENST00000526547	E9PP28
ENSG00000131238	ENST00000527311	E9PIA8
ENSG00000131238	ENST00000529905	P50897
ENSG00000131238	ENST00000530076	E9PSE5
ENSG00000131238	ENST00000530704	E9PK48
ENSG00000131238	ENST00000641083	A0A286YFL8
ENSG00000131238	ENST00000641319	A0A286YFE3
ENSG00000131238	ENST00000641381	A0A286YFL6
ENSG00000131238	ENST00000641471	A0A286YFF7
ENSG00000131238	ENST00000641548	A0A286YEP3
ENSG00000131238	ENST00000641691	A0A286YEP3
ENSG00000131238	ENST00000641924	A0A286YF39
ENSG00000131238	ENST00000642050	P50897

Expression (GTEx)

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

Pathway	Source	External ID
Fatty acid elongation	KEGG	ko00062
Fatty acid elongation	KEGG	hsa00062
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105
Synthesis of very long-chain fatty acyl-CoAs	REACTOME	R-HSA-75876

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19165527	2009	Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.	56
28899863	2017	A Unified Approach to Targeting the Lysosome's Degradative and Growth Signaling Roles.	41
18704195	2008	Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice.	37
8816748	1996	Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.	35
21704547	2011	Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.	27
19201763	2009	Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.	24
24083319	2013	Identification of palmitoyl protein thioesterase 1 in human THP1 monocytes and macrophages and characterization of unique biochemical activities for this enzyme.	20
19054571	2009	Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.	18
12025857	2002	The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.	17
25865307	2015	Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells.	17

Citation

Dessen P

PPT1 (palmitoyl-protein thioesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46009/ppt1