• Gene id: 5538

Gene Summary

• Gene Symbol: PPT1   Gene   UCSC   Ensembl
• Aliases: CLN1, INCL, PPT
• Gene name: palmitoyl-protein thioesterase 1
• Alternate names: palmitoyl-protein thioesterase 1, ceroid-palmitoyl-palmitoyl-protein thioesterase 1, palmitoyl-protein hydrolase 1,
• Gene location: 1p34.2 (40097251: 40071460)     Exons: 9     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in
• OMIM: 600722

Protein Summary

• Protein general information: P50897  
  • Name: Palmitoyl protein thioesterase 1 (PPT 1) (EC 3.1.2.22) (Palmitoyl protein hydrolase 1)
  • Length: 306  
  • Mass: 34193
• Sequence:

  MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKT
  LMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLP
  RCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKF
  VMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAH
  IIPFLG

• Structural information:
  • Interpro: IPR029058  IPR002472  IPR030294  
  • PDB: 3GRO
  • PDBsum: 3GRO
  • STRING: ENSP00000394863
• Other Databases: GeneCards:  PPT1  Malacards:  PPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0002084	protein depalmitoylation	IBA	biological process
GO:0016790	thiolester hydrolase activity	IBA	molecular function
GO:0008474	palmitoyl-(protein) hydrolase activity	IBA	molecular function
GO:0007399	nervous system development	IBA	biological process
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0035727	lysophosphatidic acid binding	IDA	molecular function
GO:0120146	sulfatide binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002084	protein depalmitoylation	IEA	biological process
GO:0098599	palmitoyl hydrolase activity	IEA	molecular function
GO:0008474	palmitoyl-(protein) hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0008474	palmitoyl-(protein) hydrolase activity	IEA	molecular function
GO:0006907	pinocytosis	IMP	biological process
GO:0006898	receptor-mediated endocytosis	IMP	biological process
GO:0008474	palmitoyl-(protein) hydrolase activity	TAS	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0044265	cellular macromolecule catabolic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0008474	palmitoyl-(protein) hydrolase activity	IEA	molecular function
GO:0008306	associative learning	IEA	biological process
GO:0007625	grooming behavior	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044257	cellular protein catabolic process	IEA	biological process
GO:0032429	regulation of phospholipase A2 activity	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0002084	protein depalmitoylation	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0002084	protein depalmitoylation	IDA	biological process
GO:0016042	lipid catabolic process	IDA	biological process
GO:0008474	palmitoyl-(protein) hydrolase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0016290	palmitoyl-CoA hydrolase activity	IDA	molecular function
GO:0008474	palmitoyl-(protein) hydrolase activity	IDA	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0030424	axon	IDA	cellular component
GO:0008021	synaptic vesicle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0002084	protein depalmitoylation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0050803	regulation of synapse structure or activity	NAS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IMP	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0048666	neuron development	TAS	biological process
GO:0031579	membrane raft organization	IMP	biological process
GO:0008474	palmitoyl-(protein) hydrolase activity	IMP	molecular function
GO:0007420	brain development	IMP	biological process
GO:0007399	nervous system development	IMP	biological process
GO:0030149	sphingolipid catabolic process	TAS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0005764	lysosome	ISS	cellular component
GO:0005576	extracellular region	ISS	cellular component
GO:0002084	protein depalmitoylation	ISS	biological process
GO:0048549	positive regulation of pinocytosis	IMP	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0030163	protein catabolic process	NAS	biological process
GO:0016290	palmitoyl-CoA hydrolase activity	ISS	molecular function
GO:0015031	protein transport	IMP	biological process
GO:0008474	palmitoyl-(protein) hydrolase activity	ISS	molecular function
GO:0007042	lysosomal lumen acidification	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa01212	Fatty acid metabolism
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Neuronal ceroid lipofuscinosis	KEGG:H00149
Santavuori-Haltia disease	KEGG:H02277
Neuronal ceroid lipofuscinosis	KEGG:H00149
Santavuori-Haltia disease	KEGG:H02277
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)