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 31 - 40 of 111 in total
DO ID Disease Name Source
DOID:0110732 neuronal ceroid lipofuscinosis 11
DOID:0110733 neuronal ceroid lipofuscinosis 9
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
DOID:1059 intellectual disability
DOID:10652 Alzheimer's disease
DOID:10871 age related macular degeneration
DOID:10914 amnestic disorder
DOID:11328 schizophreniform disorder
DOID:11504 autonomic neuropathy
The Human Phenotype Ontology
Displaying entries 11 - 20 of 113 in total
HPO ID HPO Term
HP:0000608 Macular degeneration
HP:0000618 Blindness
HP:0000648 Optic atrophy
HP:0000649 Abnormality of visual evoked potentials
HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude
HP:0000708 Atypical behavior
HP:0000712 Emotional lability
HP:0000716 Depression
HP:0000718 Aggressive behavior
HP:0000726 Dementia
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