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Entry version 195 (13 Nov 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Palmitoyl-protein thioesterase 1

Gene

PPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 (PubMed:8816748).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei115By similarity1
Active sitei233By similarity1
Active sitei289By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processSensory transduction, Vision

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.2.2 2681
3.1.2.22 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-75105 Fatty acyl-CoA biosynthesis

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

More...
ESTHERi
human-PPT1 Palmitoyl-protein_thioesterase

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Palmitoyl-protein thioesterase 1 (EC:3.1.2.22)
Short name:
PPT-1
Alternative name(s):
Palmitoyl-protein hydrolase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PPT1
Synonyms:CLN11 Publication, PPT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9325 PPT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600722 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50897

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 1 (CLN1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05843438W → C in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833626EnsemblClinVar.1
Natural variantiVAR_00554839H → Q in CLN1. Corresponds to variant dbSNP:rs386833627EnsemblClinVar.1
Natural variantiVAR_00554942G → E in CLN1. Corresponds to variant dbSNP:rs386833631EnsemblClinVar.1
Natural variantiVAR_06687445C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs137852702EnsemblClinVar.1
Natural variantiVAR_00555075T → P in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852696EnsemblClinVar.1
Natural variantiVAR_00555179D → G in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852697EnsemblClinVar.1
Natural variantiVAR_018511108G → R in CLN1; onset in adulthood; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs137852701EnsemblClinVar.1
Natural variantiVAR_005552109Y → D in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833642EnsemblClinVar.1
Natural variantiVAR_005553122R → W in CLN1; retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs137852695EnsemblClinVar.1
Natural variantiVAR_066875138S → L in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833646EnsemblClinVar.1
Natural variantiVAR_066876152C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833647EnsemblClinVar.1
Natural variantiVAR_005555177Q → E in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833650EnsemblClinVar.1
Natural variantiVAR_005556181V → L in CLN1. Corresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_005557181V → M in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_066877187H → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833657EnsemblClinVar.1
Natural variantiVAR_066878189P → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833658EnsemblClinVar.1
Natural variantiVAR_005558219L → Q in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852698EnsemblClinVar.1
Natural variantiVAR_066879222L → P in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833661EnsemblClinVar.1
Natural variantiVAR_066880228V → G in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833663EnsemblClinVar.1
Natural variantiVAR_005559247Y → H in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833665EnsemblClinVar.1
Natural variantiVAR_005560250G → V in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833666EnsemblClinVar.1
Natural variantiVAR_066881296W → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833669EnsemblClinVar.1
Natural variantiVAR_066882305L → P in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833671EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
5538

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PPT1

MalaCards human disease database

More...
MalaCardsi
PPT1
MIMi256730 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000131238

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
228329 CLN1 disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33688

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P50897

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2331051

Drug and drug target database

More...
DrugBanki
DB02035 1-Hexadecylsulfonyl Fluoride
DB03796 Palmitic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PPT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1709747

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Combined sourcesAdd BLAST27
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002555028 – 306Palmitoyl-protein thioesterase 1Add BLAST279

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi45 ↔ 461 Publication
Disulfide bondi96 ↔ 1281 Publication
Disulfide bondi152 ↔ 1601 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi197N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi212N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi232N-linked (GlcNAc...) asparagine2 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P50897

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P50897

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P50897

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P50897

PeptideAtlas

More...
PeptideAtlasi
P50897

PRoteomics IDEntifications database

More...
PRIDEi
P50897

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
56269 [P50897-1]
56270 [P50897-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1592

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P50897

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P50897

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P50897

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000131238 Expressed in 244 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P50897 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P50897 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021546

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CLN5 (PubMed:19941651).

Interacts with ATP5F1A and ATP5F1B (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q76RH32EBI-1237011,EBI-14033513From Human herpesvirus 8.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111530, 227 interactors

Protein interaction database and analysis system

More...
IntActi
P50897, 14 interactors

Molecular INTeraction database

More...
MINTi
P50897

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000394863

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P50897

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1306
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P50897

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P50897

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2541 Eukaryota
COG1075 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156790

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000199232

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P50897

KEGG Orthology (KO)

More...
KOi
K01074

Identification of Orthologs from Complete Genome Data

More...
OMAi
GFFIHPN

Database of Orthologous Groups

More...
OrthoDBi
904122at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P50897

TreeFam database of animal gene trees

More...
TreeFami
TF323926

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.1820, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029058 AB_hydrolase
IPR002472 Palm_thioest
IPR030294 PPT1

The PANTHER Classification System

More...
PANTHERi
PTHR11247:SF8 PTHR11247:SF8, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02089 Palm_thioest, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00414 PPTHIESTRASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53474 SSF53474, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50897-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASPGCLWLL AVALLPWTCA SRALQHLDPP APLPLVIWHG MGDSCCNPLS
60 70 80 90 100
MGAIKKMVEK KIPGIYVLSL EIGKTLMEDV ENSFFLNVNS QVTTVCQALA
110 120 130 140 150
KDPKLQQGYN AMGFSQGGQF LRAVAQRCPS PPMINLISVG GQHQGVFGLP
160 170 180 190 200
RCPGESSHIC DFIRKTLNAG AYSKVVQERL VQAEYWHDPI KEDVYRNHSI
210 220 230 240 250
FLADINQERG INESYKKNLM ALKKFVMVKF LNDSIVDPVD SEWFGFYRSG
260 270 280 290 300
QAKETIPLQE TSLYTQDRLG LKEMDNAGQL VFLATEGDHL QLSEEWFYAH

IIPFLG
Length:306
Mass (Da):34,193
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i69F8083FD1C15E92
GO
Isoform 2 (identifier: P50897-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     42-144: Missing.

Note: No experimental confirmation available.
Show »
Length:203
Mass (Da):23,094
Checksum:iC73DB3FEBDEC8F32
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIA8E9PIA8_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
208Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFF7A0A286YFF7_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
335Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2C9F2P4A0A2C9F2P4_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
305Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PSE5E9PSE5_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T0S4Q5T0S4_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
282Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PK48E9PK48_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFE3A0A286YFE3_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
301Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFL8A0A286YFL8_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
323Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFL6A0A286YFL6_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PMG2E9PMG2_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05843438W → C in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833626EnsemblClinVar.1
Natural variantiVAR_00554839H → Q in CLN1. Corresponds to variant dbSNP:rs386833627EnsemblClinVar.1
Natural variantiVAR_00554942G → E in CLN1. Corresponds to variant dbSNP:rs386833631EnsemblClinVar.1
Natural variantiVAR_06687445C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs137852702EnsemblClinVar.1
Natural variantiVAR_00555075T → P in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852696EnsemblClinVar.1
Natural variantiVAR_00555179D → G in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852697EnsemblClinVar.1
Natural variantiVAR_018511108G → R in CLN1; onset in adulthood; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs137852701EnsemblClinVar.1
Natural variantiVAR_005552109Y → D in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833642EnsemblClinVar.1
Natural variantiVAR_005553122R → W in CLN1; retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs137852695EnsemblClinVar.1
Natural variantiVAR_005554134I → T1 PublicationCorresponds to variant dbSNP:rs1800205EnsemblClinVar.1
Natural variantiVAR_066875138S → L in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833646EnsemblClinVar.1
Natural variantiVAR_066876152C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833647EnsemblClinVar.1
Natural variantiVAR_005555177Q → E in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833650EnsemblClinVar.1
Natural variantiVAR_005556181V → L in CLN1. Corresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_005557181V → M in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_066877187H → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833657EnsemblClinVar.1
Natural variantiVAR_066878189P → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833658EnsemblClinVar.1
Natural variantiVAR_005558219L → Q in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852698EnsemblClinVar.1
Natural variantiVAR_066879222L → P in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833661EnsemblClinVar.1
Natural variantiVAR_066880228V → G in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833663EnsemblClinVar.1
Natural variantiVAR_005559247Y → H in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833665EnsemblClinVar.1
Natural variantiVAR_005560250G → V in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833666EnsemblClinVar.1
Natural variantiVAR_066881296W → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833669EnsemblClinVar.1
Natural variantiVAR_066882305L → P in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833671EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04203342 – 144Missing in isoform 2. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L42809 Genomic DNA Translation: AAA85337.1
U44772 mRNA Translation: AAB06236.1
AF022211
, AF022203, AF022204, AF022205, AF022206, AF022207, AF022208, AF022209, AF022210 Genomic DNA Translation: AAB72224.1
AK302232 mRNA Translation: BAG63586.1
AK312287 mRNA Translation: BAG35214.1
CR542053 mRNA Translation: CAG46850.1
AL512599 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07237.1
CH471059 Genomic DNA Translation: EAX07238.1
BC008426 mRNA Translation: AAH08426.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44119.1 [P50897-2]
CCDS447.1 [P50897-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I58097

NCBI Reference Sequences

More...
RefSeqi
NP_000301.1, NM_000310.3 [P50897-1]
NP_001136076.1, NM_001142604.1 [P50897-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000449045; ENSP00000392293; ENSG00000131238 [P50897-2]
ENST00000529905; ENSP00000432053; ENSG00000131238 [P50897-1]
ENST00000642050; ENSP00000493153; ENSG00000131238 [P50897-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5538

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5538

UCSC genome browser

More...
UCSCi
uc001cfb.3 human [P50897-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NCL CLN1

Neural Ceroid Lipofuscinoses mutation db

Mutations of the PPT1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42809 Genomic DNA Translation: AAA85337.1
U44772 mRNA Translation: AAB06236.1
AF022211
, AF022203, AF022204, AF022205, AF022206, AF022207, AF022208, AF022209, AF022210 Genomic DNA Translation: AAB72224.1
AK302232 mRNA Translation: BAG63586.1
AK312287 mRNA Translation: BAG35214.1
CR542053 mRNA Translation: CAG46850.1
AL512599 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07237.1
CH471059 Genomic DNA Translation: EAX07238.1
BC008426 mRNA Translation: AAH08426.1
CCDSiCCDS44119.1 [P50897-2]
CCDS447.1 [P50897-1]
PIRiI58097
RefSeqiNP_000301.1, NM_000310.3 [P50897-1]
NP_001136076.1, NM_001142604.1 [P50897-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3GROX-ray2.53A/B22-306[»]
SMRiP50897
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111530, 227 interactors
IntActiP50897, 14 interactors
MINTiP50897
STRINGi9606.ENSP00000394863

Chemistry databases

BindingDBiP50897
ChEMBLiCHEMBL2331051
DrugBankiDB02035 1-Hexadecylsulfonyl Fluoride
DB03796 Palmitic Acid

Protein family/group databases

ESTHERihuman-PPT1 Palmitoyl-protein_thioesterase

PTM databases

GlyConnecti1592
iPTMnetiP50897
PhosphoSitePlusiP50897
SwissPalmiP50897

Polymorphism and mutation databases

BioMutaiPPT1
DMDMi1709747

Proteomic databases

EPDiP50897
jPOSTiP50897
MassIVEiP50897
PaxDbiP50897
PeptideAtlasiP50897
PRIDEiP50897
ProteomicsDBi56269 [P50897-1]
56270 [P50897-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5538

Genome annotation databases

EnsembliENST00000449045; ENSP00000392293; ENSG00000131238 [P50897-2]
ENST00000529905; ENSP00000432053; ENSG00000131238 [P50897-1]
ENST00000642050; ENSP00000493153; ENSG00000131238 [P50897-1]
GeneIDi5538
KEGGihsa:5538
UCSCiuc001cfb.3 human [P50897-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5538
DisGeNETi5538

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PPT1
GeneReviewsiPPT1
HGNCiHGNC:9325 PPT1
HPAiHPA021546
MalaCardsiPPT1
MIMi256730 phenotype
600722 gene
neXtProtiNX_P50897
OpenTargetsiENSG00000131238
Orphaneti228329 CLN1 disease
PharmGKBiPA33688

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2541 Eukaryota
COG1075 LUCA
GeneTreeiENSGT00940000156790
HOGENOMiHOG000199232
InParanoidiP50897
KOiK01074
OMAiGFFIHPN
OrthoDBi904122at2759
PhylomeDBiP50897
TreeFamiTF323926

Enzyme and pathway databases

BRENDAi3.1.2.2 2681
3.1.2.22 2681
ReactomeiR-HSA-75105 Fatty acyl-CoA biosynthesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PPT1 human
EvolutionaryTraceiP50897

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PPT1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5538
PharosiP50897

Protein Ontology

More...
PROi
PR:P50897

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131238 Expressed in 244 organ(s), highest expression level in blood
ExpressionAtlasiP50897 baseline and differential
GenevisibleiP50897 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR002472 Palm_thioest
IPR030294 PPT1
PANTHERiPTHR11247:SF8 PTHR11247:SF8, 1 hit
PfamiView protein in Pfam
PF02089 Palm_thioest, 1 hit
PRINTSiPR00414 PPTHIESTRASE
SUPFAMiSSF53474 SSF53474, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPPT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50897
Secondary accession number(s): B4DY24, Q6FGQ4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 13, 2019
This is version 195 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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