palmitoyl-protein thioesterase 1

Summary
Gene Symbol
  • PPT1
Aliases
  • CLN1
  • INCL
  • ceroid-lipofuscinosis, neuronal 1, infantile
Organism
Homo sapiens (human)
External Links
NCBI Gene
5538
HGNC
9325
KEGG Gene ID
hsa:5538
PubChem
5538
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Hydrolase
  • Lysosome
  • Neuronal ceroid lipofuscinosis
  • Reference proteome
  • Secreted
  • Signal
  • Vision
Proteins
Displaying 1 entry
UniProt Protein Name
P50897
  • Palmitoyl-protein hydrolase 1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000131238

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 61 - 70 of 111 in total
DO ID Disease Name Source
DOID:162 cancer
DOID:1826 epilepsy
DOID:1849 cannabis dependence
DOID:1926 Gaucher's disease
DOID:2007 degeneration of macula and posterior pole
DOID:2468 psychotic disorder
DOID:2513 basal cell carcinoma
DOID:2526 prostate adenocarcinoma
DOID:2848 obsolete melancholia
DOID:288 endometriosis of uterus
The Human Phenotype Ontology
Displaying entries 81 - 90 of 113 in total
HPO ID HPO Term
HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
HP:0003621 Juvenile onset
HP:0003657 Vascular granular osmiophilic material deposition
HP:0003698 Difficulty standing
HP:0003739 Myoclonic spasms
HP:0004302 Functional motor deficit
HP:0005324 Disturbance of facial expression
HP:0005484 Secondary microcephaly
HP:0007010 Poor fine motor coordination
HP:0007064 Progressive language deterioration
Displaying all 5 entries
Disease ID Disease Name
ORPHA:168491
  • late infantile neuronal ceroid lipofuscinosis
OMIM:256730
  • neuronal ceroid lipofuscinosis 1
ORPHA:79263
  • infantile neuronal ceroid lipofuscinosis
ORPHA:79264
  • juvenile neuronal ceroid lipofuscinosis
ORPHA:79262
  • adult neuronal ceroid lipofuscinosis
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002384
Gene Name
palmitoyl-protein thioesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024