Gene/Proteome Database (LMPD)

LMPD ID
LMP002384
Gene ID
5538
Species
Homo sapiens (Human)
Gene Name
palmitoyl-protein thioesterase 1
Gene Symbol
PPT1
Synonyms
CLN1; INCL; PPT
Alternate Names
palmitoyl-protein thioesterase 1; palmitoyl-protein hydrolase 1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1
Chromosome
1
Map Location
1p32
EC Number
3.1.2.22
Summary
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 this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
Orthologs
View orthologs and multiple alignments for PPT1

Proteins

palmitoyl-protein thioesterase 1 isoform 1 precursor
Refseq ID NP_000301
Protein GI 4506031
UniProt ID P50897
mRNA ID NM_000310
Length 306
RefSeq Status REVIEWED
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG
palmitoyl-protein thioesterase 1 isoform 2 precursor
Refseq ID NP_001136076
Protein GI 217272890
UniProt ID P50897
mRNA ID NM_001142604
Length 203
RefSeq Status REVIEWED
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG
sig_peptide: 1..27 calculated_mol_wt: 2923 peptide sequence: MASPGCLWLLAVALLPWTCASRALQHL mat_peptide: 28..306 product: palmitoyl-protein thioesterase 1 isoform 1 calculated_mol_wt: 31289 peptide sequence: DPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG sig_peptide: 1..27 calculated_mol_wt: 2923 peptide sequence: MASPGCLWLLAVALLPWTCASRALQHL mat_peptide: 28..203 product: palmitoyl-protein thioesterase 1 isoform 2 calculated_mol_wt: 20189 peptide sequence: DPPAPLPLVIWHGMGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG

Gene Information

Entrez Gene ID
5538
Gene Name
palmitoyl-protein thioesterase 1
Gene Symbol
PPT1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0030424 IDA:UniProtKB C axon
GO:0005829 ISS:UniProtKB C cytosol
GO:0030425 IEA:Ensembl C dendrite
GO:0005576 IDA:UniProtKB C extracellular region
GO:0005615 IEA:Ensembl C extracellular space
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0005794 IDA:UniProtKB C Golgi apparatus
GO:0005764 IDA:UniProtKB C lysosome
GO:0016020 IDA:UniProtKB C membrane
GO:0045121 IDA:UniProtKB C membrane raft
GO:0043025 IEA:Ensembl C neuronal cell body
GO:0005634 IDA:UniProtKB C nucleus
GO:0008021 IDA:UniProtKB C synaptic vesicle
GO:0016290 IDA:UniProtKB F palmitoyl-CoA hydrolase activity
GO:0008474 IDA:UniProtKB F palmitoyl-(protein) hydrolase activity
GO:0008344 IEA:Ensembl P adult locomotory behavior
GO:0008306 IEA:Ensembl P associative learning
GO:0007420 IMP:UniProtKB P brain development
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0044257 IEA:Ensembl P cellular protein catabolic process
GO:0051186 IMP:UniProtKB P cofactor metabolic process
GO:0051181 IMP:UniProtKB P cofactor transport
GO:0007625 IEA:Ensembl P grooming behavior
GO:0016042 IDA:UniProtKB P lipid catabolic process
GO:0007042 IMP:UniProtKB P lysosomal lumen acidification
GO:0031579 IMP:UniProtKB P membrane raft organization
GO:0043066 IDA:UniProtKB P negative regulation of apoptotic process
GO:0030308 IMP:UniProtKB P negative regulation of cell growth
GO:0043524 IMP:UniProtKB P negative regulation of neuron apoptotic process
GO:0007399 IMP:UniProtKB P nervous system development
GO:0048666 TAS:UniProtKB P neuron development
GO:0007269 IEA:Ensembl P neurotransmitter secretion
GO:0006907 IMP:MGI P pinocytosis
GO:0048549 IMP:UniProtKB P positive regulation of pinocytosis
GO:0048260 IMP:UniProtKB P positive regulation of receptor-mediated endocytosis
GO:0030163 NAS:UniProtKB P protein catabolic process
GO:0002084 IDA:UniProtKB P protein depalmitoylation
GO:0015031 IMP:UniProtKB P protein transport
GO:0006898 IMP:MGI P receptor-mediated endocytosis
GO:0032429 IEA:Ensembl P regulation of phospholipase A2 activity
GO:0050803 NAS:UniProtKB P regulation of synapse structure and activity
GO:0030149 TAS:UniProtKB P sphingolipid catabolic process
GO:0007601 IEA:UniProtKB-KW P visual perception

KEGG Pathway Links

KEGG Pathway ID Description
hsa00062 Fatty acid elongation
hsa01212 Fatty acid metabolism
hsa04142 Lysosome
hsa01100 Metabolic pathways

Domain Information

InterPro Annotations

Accession Description
IPR029058 Alpha/Beta hydrolase fold
IPR002472 Palmitoyl protein thioesterase

UniProt Annotations

Entry Information

Gene Name
palmitoyl-protein thioesterase 1
Protein Entry
PPT1_HUMAN
UniProt ID
P50897
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50897-1; Sequence=Displayed; Name=2; IsoId=P50897-2; Sequence=VSP_042033; Note=No experimental confirmation available.;
Catalytic Activity Palmitoyl-[protein] + H(2)O = palmitate + [protein].
Disease Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM
Function Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons.
Similarity Belongs to the palmitoyl-protein thioesterase family.
Subcellular Location Lysosome.
Web Resource Name=Mutations of the PPT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/pptmut.htm";
Web Resource Name=NCL CLN1; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln1.shtml";

Identical and Related Proteins

Unique RefSeq proteins for LMP002384 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4506031 RefSeq NP_000301 306 palmitoyl-protein thioesterase 1 isoform 1 precursor
217272890 RefSeq NP_001136076 203 palmitoyl-protein thioesterase 1 isoform 2 precursor

Identical Sequences to LMP002384 proteins

Reference Database Accession Length Protein Name
GI:217272890 DBBJ BAG63586.1 203 unnamed protein product [Homo sapiens]
GI:4506031 GenBank ADT50857.1 306 Sequence 2874 from patent US 7842467
GI:4506031 GenBank ADT50858.1 306 Sequence 2875 from patent US 7842467
GI:4506031 GenBank ADT50859.1 306 Sequence 2876 from patent US 7842467
GI:4506031 GenBank AFO05897.1 306 Sequence 535 from patent US 8216786
GI:4506031 GenBank AHD75947.1 306 Sequence 18330 from patent US 8586006
GI:4506031 GenBank AIC49464.1 306 PPT1, partial [synthetic construct]
GI:217272890 RefSeq XP_004025579.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform 2 [Gorilla gorilla gorilla]

Related Sequences to LMP002384 proteins

Reference Database Accession Length Protein Name
GI:4506031 GenBank JAA09377.1 306 palmitoyl-protein thioesterase 1 [Pan troglodytes]
GI:4506031 GenBank JAA26571.1 306 palmitoyl-protein thioesterase 1 [Pan troglodytes]
GI:4506031 GenBank JAA33425.1 306 palmitoyl-protein thioesterase 1 [Pan troglodytes]
GI:4506031 RefSeq XP_001172215.1 306 PREDICTED: palmitoyl-protein thioesterase 1 [Pan troglodytes]
GI:4506031 RefSeq XP_003815469.1 306 PREDICTED: palmitoyl-protein thioesterase 1 [Pan paniscus]
GI:4506031 RefSeq XP_004025578.1 306 PREDICTED: palmitoyl-protein thioesterase 1 isoform 1 [Gorilla gorilla gorilla]
GI:217272890 RefSeq XP_004415420.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform 2 [Odobenus rosmarus divergens]
GI:217272890 RefSeq XP_004740742.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform X2 [Mustela putorius furo]
GI:217272890 RefSeq XP_004783007.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform X2 [Mustela putorius furo]
GI:217272890 RefSeq XP_005543902.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform X2 [Macaca fascicularis]
GI:217272890 RefSeq XP_006188102.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform X2 [Camelus ferus]
GI:217272890 RefSeq XP_006215926.1 203 PREDICTED: palmitoyl-protein thioesterase 1 isoform X2 [Vicugna pacos]