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
Displaying entries 6 - 10 of 15 in total
GO Term Evidence Code PMID
axon
dendrite
neuronal cell body
membrane
lysosomal membrane
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 71 - 80 of 111 in total
DO ID Disease Name Source
DOID:289 endometriosis
DOID:3068 glioblastoma
DOID:3070 high grade glioma
DOID:3074 giant cell glioblastoma
DOID:308 early myoclonic encephalopathy
DOID:3149 keratoacanthoma
DOID:3211 lysosomal storage disease
DOID:331 central nervous system disease
DOID:3459 breast carcinoma
DOID:3535 Unverricht-Lundborg syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 113 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000253 Progressive microcephaly
HP:0000483 Astigmatism
HP:0000529 Progressive visual loss
HP:0000543 Optic disc pallor
HP:0000545 Myopia
HP:0000546 Retinal degeneration
HP:0000550 Undetectable electroretinogram
HP:0000572 Visual loss
HP:0000580 Pigmentary retinopathy
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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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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