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Aliases for PPT1 Gene

Aliases for PPT1 Gene

  • Palmitoyl-Protein Thioesterase 1 2 3
  • Palmitoyl-Protein Hydrolase 1 3 4
  • EC 3.1.2.22 4 63
  • CLN1 3 6
  • PPT 3 4
  • Ceroid-Palmitoyl-Palmitoyl-Protein Thioesterase 1 3
  • Ceroid-Lipofuscinosis 2
  • Neuronal 1 2
  • Infantile 2
  • PPT-1 4
  • INCL 3

External Ids for PPT1 Gene

Previous HGNC Symbols for PPT1 Gene

  • PPT

Previous GeneCards Identifiers for PPT1 Gene

  • GC01M040567
  • GC01M039541
  • 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 Lysosome and Metabolism. GO annotations related to this gene include palmitoyl-CoA hydrolase activity and palmitoyl-(protein) 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

Genomic Location for PPT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys174 and Lys253
  • Glycosylation at Asn197, Asn212, and Asn232
  • Modification sites at PhosphoSitePlus

Domains for PPT1 Gene

Protein Domains for PPT1 Gene

Graphical View of Domain Structure for InterPro Entry

P50897

UniProtKB/Swiss-Prot:

PPT1_HUMAN :
  • P50897
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

Gene Ontology (GO) - Molecular Function for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008474 palmitoyl-(protein) hydrolase activity ISS --
GO:0016290 palmitoyl-CoA hydrolase activity ISS --
GO:0098599 palmitoyl hydrolase activity --
genes like me logo Genes that share ontologies with PPT1: view
genes like me logo Genes that share phenotypes with PPT1: view

Animal Models for PPT1 Gene

MGI Knock Outs for PPT1:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targeting 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
endoplasmic reticulum 1
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IDA 10992246
GO:0005764 lysosome ISS --
GO:0005794 Golgi apparatus IDA 7637805
genes like me logo Genes that share ontologies with PPT1: view

Pathways for PPT1 Gene

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

Pathways by source for PPT1 Gene

Gene Ontology (GO) - Biological Process for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation ISS --
GO:0006464 cellular protein modification process --
GO:0006898 receptor-mediated endocytosis IMP 16542649
GO:0006907 pinocytosis IMP 16542649
GO:0007040 lysosome organization --
genes like me logo Genes that share ontologies with PPT1: view

Compounds for PPT1 Gene

(4) HMDB Compounds for PPT1 Gene

Compound Synonyms Cas Number PubMed IDs
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Palmitic acid
  • Hexaectylic acid
57-10-3
Palmityl-CoA
  • Palmityl-CoA
1763-10-6
Water
  • Dihydrogen oxide
7732-18-5

(2) Drugbank Compounds for PPT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1-Hexadecylsulfonyl Fluoride
target
Palmitic Acid
  • 1-Hexyldecanoic Acid
57-10-3 target

(9) Novoseek inferred chemical compound relationships for PPT1 Gene

Compound -log(P) Hits PubMed IDs
mannose 6-phosphate 63.8 3
c2ceramide 60.5 7
palmitate 56 9
cysteine 35.9 8
etoposide 12.7 3
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPT1

Primer Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (6.7).

Integrated Proteomics: protein expression 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 expressions with PPT1: view

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia PPT1 35
  • 99.46 (n)
  • 99.35 (a)
PPT1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLN1 36
  • 91 (a)
OneToOne
PPT1 35
  • 90.27 (n)
  • 91.8 (a)
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
oppossum
(Monodelphis domestica)
Mammalia PPT1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPT1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppt1 35
  • 84.26 (n)
  • 85.9 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001058 35
  • 57.97 (n)
  • 53.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ppt1 35
  • 58.03 (n)
  • 55.84 (a)
Ppt1 36
  • 48 (a)
OneToOne
Ppt1 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea ppt-1 35
  • 56.29 (n)
  • 51.56 (a)
ppt-1 36
  • 50 (a)
OneToOne
ppt-1 37
  • 54 (a)
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

Selected 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 MAF
rs1126970 -- 40,073,776(-) ATCAG(G/T)GCCAG utr-variant-3-prime
rs1126972 -- 40,073,556(-) TCTCT(C/G)AGTAC utr-variant-3-prime
rs1126973 -- 40,073,404(-) ATTAA(A/G)TTGCT utr-variant-3-prime
rs1800205 Likely benign, - 40,091,361(-) CATGA(C/T)CAATC missense, reference, intron-variant
rs1800432 -- 40,097,170(-) CGGGC(A/G)CTGCA synonymous-codon, reference

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

Relevant External Links for PPT1 Gene

HapMap Linkage Disequilibrium report
PPT1
Human Gene Mutation Database (HGMD)
PPT1
Locus Specific Mutation Databases (LSDB)
PPT1

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

Disorders for PPT1 Gene

(1) OMIM Diseases for PPT1 Gene (600722)

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.

(13) Novoseek inferred disease relationships for PPT1 Gene

Disease -log(P) Hits PubMed IDs
infantile neuronal ceroid lipofuscinosis 99 48
neuronal ceroid lipofuscinoses 96.9 6
lincl 94.6 8
batten disease 89.4 7
neurodegenerative diseases 74.9 17

Relevant External Links for PPT1

GeneTests
PPT1
GeneReviews
PPT1
Genetic Association Database (GAD)
PPT1
Human Genome Epidemiology (HuGE) Navigator
PPT1
genes like me logo Genes that share disorders with PPT1: view

Publications for PPT1 Gene

  1. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. (PMID: 9664077) Das A.K. … Hofmann S.L. (J. Clin. Invest. 1998) 3 4 23
  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. Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis. (PMID: 8633062) Crews C.M. … Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  4. cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis. (PMID: 8786130) Schriner J.E. … Hofmann S.L. (Genomics 1996) 3 4 23
  5. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (PMID: 9425237) Mitchison H.M. … O'Rawe A.M. (Hum. Mol. Genet. 1998) 3 4 23

Products for PPT1 Gene

  • Addgene plasmids for PPT1

Sources for PPT1 Gene

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