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Aliases for PPT1 Gene

Aliases for PPT1 Gene

  • Palmitoyl-Protein Thioesterase 1 2 3 5
  • Palmitoyl-Protein Hydrolase 1 3 4
  • EC 3.1.2.22 4 63
  • PPT 3 4
  • Ceroid-Palmitoyl-Palmitoyl-Protein Thioesterase 1 3
  • Ceroid-Lipofuscinosis 2
  • Neuronal 1 2
  • Infantile 2
  • PPT-1 4
  • CLN1 3
  • INCL 3

External Ids for PPT1 Gene

Previous HGNC Symbols for PPT1 Gene

  • PPT

Previous GeneCards Identifiers for PPT1 Gene

  • GC01M040567
  • GC01M039541
  • GC01M040001
  • GC01M039951
  • GC01M040207
  • GC01M040310
  • GC01M038656

Summaries for PPT1 Gene

Entrez Gene Summary for PPT1 Gene

  • 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]

GeneCards Summary for PPT1 Gene

PPT1 (Palmitoyl-Protein Thioesterase 1) is a Protein Coding gene. Diseases associated with PPT1 include ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid-lipofuscinoses. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Fatty acid metabolism. GO annotations related to this gene include palmitoyl-CoA hydrolase activity and palmitoyl hydrolase activity. An important paralog of this gene is PPT2.

UniProtKB/Swiss-Prot for PPT1 Gene

  • 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.

Gene Wiki entry for PPT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPT1 Gene

Genomics for PPT1 Gene

Regulatory Elements for PPT1 Gene

Enhancers for PPT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PPT1 on UCSC Golden Path with GeneCards custom track

Promoters for PPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PPT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PPT1 Gene

Chromosome:
1
Start:
40,072,705 bp from pter
End:
40,097,703 bp from pter
Size:
24,999 bases
Orientation:
Minus strand

Genomic View for PPT1 Gene

Genes around PPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPT1 Gene

Proteins for PPT1 Gene

  • Protein details for PPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50897-PPT1_HUMAN
    Recommended name:
    Palmitoyl-protein thioesterase 1
    Protein Accession:
    P50897
    Secondary Accessions:
    • B4DY24
    • Q6FGQ4

    Protein attributes for PPT1 Gene

    Size:
    306 amino acids
    Molecular mass:
    34193 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PPT1 Gene

    Alternative splice isoforms for PPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPT1 Gene

Proteomics data for PPT1 Gene at MOPED

Post-translational modifications for PPT1 Gene

  • Ubiquitination at Lys 174 and Lys 253
  • Glycosylation at Asn 197, Asn 212, and Asn 232
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PPT1 Gene

Protein Domains for PPT1 Gene

Graphical View of Domain Structure for InterPro Entry

P50897

UniProtKB/Swiss-Prot:

PPT1_HUMAN :
  • Belongs to the palmitoyl-protein thioesterase family.
Family:
  • Belongs to the palmitoyl-protein thioesterase family.
genes like me logo Genes that share domains with PPT1: view

No data available for Gene Families for PPT1 Gene

Function for PPT1 Gene

Molecular function for PPT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-[protein] + H(2)O = palmitate + [protein].
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PPT1 Gene

genes like me logo Genes that share phenotypes with PPT1: view

Human Phenotype Ontology for PPT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPT1 Gene

MGI Knock Outs for PPT1:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PPT1 Gene

Localization for PPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPT1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPT1 Gene COMPARTMENTS Subcellular localization image for PPT1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
lysosome 5
nucleus 5
vacuole 5
cytosol 4
mitochondrion 2
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol ISS --
GO:0008021 synaptic vesicle IDA 12483688
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PPT1: view

Pathways & Interactions for PPT1 Gene

genes like me logo Genes that share pathways with PPT1: view

Gene Ontology (GO) - Biological Process for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation ISS --
GO:0006898 receptor-mediated endocytosis IMP 16542649
GO:0006907 pinocytosis IMP 16542649
GO:0007042 lysosomal lumen acidification IMP 11722572
GO:0007269 neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with PPT1: view

No data available for SIGNOR curated interactions for PPT1 Gene

Drugs & Compounds for PPT1 Gene

(7) Drugs for PPT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Experimental Pharma Full agonist, Agonist, Target 22
1-Hexadecylsulfonyl Fluoride Experimental Pharma Target 0
Coenzyme A Nutra 0

(8) Additional Compounds for PPT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hexadecanoyl-CoA
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl Coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme a
  • Palmitoyl-CoA
1763-10-6
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PPT1: view

Transcripts for PPT1 Gene

Unigene Clusters for PPT1 Gene

Palmitoyl-protein thioesterase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPT1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11
SP1: -
SP2: - -
SP3:
SP4: - - - - - -
SP5:

Relevant External Links for PPT1 Gene

GeneLoc Exon Structure for
PPT1
ECgene alternative splicing isoforms for
PPT1

Expression for PPT1 Gene

mRNA expression in normal human tissues for PPT1 Gene

mRNA differential expression in normal tissues according to GTEx for PPT1 Gene

This gene is overexpressed in Whole Blood (x6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPT1 Gene



SOURCE GeneReport for Unigene cluster for PPT1 Gene Hs.3873

genes like me logo Genes that share expression patterns with PPT1: view

Protein tissue co-expression partners for PPT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PPT1 Gene

Orthologs for PPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPT1 35
  • 90.27 (n)
  • 91.8 (a)
CLN1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPT1 35
  • 91.48 (n)
  • 92.13 (a)
PPT1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppt1 35
  • 85.03 (n)
  • 85.57 (a)
Ppt1 16
Ppt1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPT1 35
  • 99.46 (n)
  • 99.35 (a)
PPT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppt1 35
  • 84.26 (n)
  • 85.9 (a)
oppossum
(Monodelphis domestica)
Mammalia PPT1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPT1 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPT1 35
  • 72.3 (n)
  • 72.64 (a)
PPT1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPT1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt1 35
  • 68.24 (n)
  • 71.28 (a)
zebrafish
(Danio rerio)
Actinopterygii ppt1 35
  • 66.56 (n)
  • 68.77 (a)
ppt1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ppt1 37
  • 55 (a)
Ppt1 35
  • 58.03 (n)
  • 55.84 (a)
Ppt1 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001058 35
  • 57.97 (n)
  • 53.31 (a)
worm
(Caenorhabditis elegans)
Secernentea ppt-1 37
  • 54 (a)
ppt-1 35
  • 56.29 (n)
  • 51.56 (a)
ppt-1 36
  • 50 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G60340 35
  • 46.16 (n)
  • 33.58 (a)
rice
(Oryza sativa)
Liliopsida Os03g0101100 35
  • 44.87 (n)
  • 33.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06530 35
  • 48.22 (n)
  • 37.27 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pdf1 35
  • 45.98 (n)
  • 33.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9019 36
  • 57 (a)
OneToOne
Species with no ortholog for PPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPT1 Gene

ENSEMBL:
Gene Tree for PPT1 (if available)
TreeFam:
Gene Tree for PPT1 (if available)

Paralogs for PPT1 Gene

Paralogs for PPT1 Gene

(4) SIMAP similar genes for PPT1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PPT1: view

Variants for PPT1 Gene

Sequence variations from dbSNP and Humsavar for PPT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_005548 Ceroid lipofuscinosis, neuronal, 1 (CLN1)
VAR_005549 Ceroid lipofuscinosis, neuronal, 1 (CLN1)
VAR_005550 Ceroid lipofuscinosis, neuronal, 1 (CLN1)
VAR_005551 Ceroid lipofuscinosis, neuronal, 1 (CLN1)
VAR_005552 Ceroid lipofuscinosis, neuronal, 1 (CLN1)

Structural Variations from Database of Genomic Variants (DGV) for PPT1 Gene

Variant ID Type Subtype PubMed ID
dgv49e1 CNV Complex 17122850
esv2750836 CNV Gain 17911159
nsv829660 CNV Gain+Loss 17160897
nsv10128 CNV Loss 18304495
dgv35n67 CNV Loss 20364138
esv2747330 CNV Deletion 23290073
esv6823 CNV Loss 19470904
esv2663819 CNV Deletion 23128226

Variation tolerance for PPT1 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPT1 Gene

HapMap Linkage Disequilibrium report
PPT1
Human Gene Mutation Database (HGMD)
PPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPT1 Gene

Disorders for PPT1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PPT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 1
  • ceroid lipofuscinosis neuronal 1
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
ceroid lipofuscinosis, neuronal, 3
  • batten disease
late-infantile neuronal ceroid lipofuscinosis
  • jansky-bielschowsky disease
- elite association - COSMIC cancer census association via MalaCards
Search PPT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPT1_HUMAN
  • Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]: A 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). {ECO:0000269 PubMed:11506414, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:7637805, ECO:0000269 PubMed:9425237, ECO:0000269 PubMed:9664077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PPT1

Genetic Association Database (GAD)
PPT1
Human Genome Epidemiology (HuGE) Navigator
PPT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPT1
genes like me logo Genes that share disorders with PPT1: view

No data available for Genatlas for PPT1 Gene

Publications for PPT1 Gene

  1. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M. … Lehesjoki A.-E. (Brain 2009) 3 4 48 67
  2. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. (PMID: 8325646) Hellsten E. … Peltonen L. (Genomics 1993) 2 3 23
  3. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. (PMID: 19302939) Simonati A. … Santorelli F.M. (Pediatr. Neurol. 2009) 3 23
  4. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. (PMID: 18704195) Kim S.J. … Mukherjee A.B. (J. Clin. Invest. 2008) 3 23
  5. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. (PMID: 17261688) Ramadan H. … Mole S.E. (Neurology 2007) 3 23

Products for PPT1 Gene

Sources for PPT1 Gene

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