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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 58
  • CLN1 3 4
  • PPT 3 4
  • Ceroid-Palmitoyl-Palmitoyl-Protein Thioesterase 1 3
  • Ceroid-Lipofuscinosis, Neuronal 1, 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
  • 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 acid elongation and 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 (PubMed:8816748).

Gene Wiki entry for PPT1 Gene

Additional gene information for PPT1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H040055 1.6 Ensembl ENCODE dbSUPER 32.4 +39.0 39036 6 HDGF PKNOX1 FOXA2 ARNT ARID4B ZNF766 JUNB SMARCB1 ZNF592 MEF2D EXO5 PPT1 TRIT1 PPIE PPIEL RLF LOC105378668 ENSG00000202222 CAP1
GH01H040036 1.7 FANTOM5 ENCODE dbSUPER 26.5 +58.1 58078 7 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PPT1 PPIEL PPIE TRIT1 CAP1 ZNF684 ZFP69 EXO5 BMP8B LOC105378669
GH01H040096 1.3 ENCODE dbSUPER 33.9 +0.5 466 1 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF207 PPT1 PPIE EXO5 TRIT1 PPIEL PABPC4 RLF CAP1
GH01H040076 1.3 Ensembl ENCODE dbSUPER 32.8 +20.8 20796 1 ATF1 JUN ZNF175 CEBPG FOSL1 IRF9 CTBP1 ATF7 ZNF362 CEBPB PPT1 CAP1 ZMPSTE24 ENSG00000231296 TRIT1 ENSG00000202222
GH01H040049 1.2 Ensembl ENCODE dbSUPER 27.8 +48.0 47990 1 BCOR TBP TAL1 TCF12 POLR2A NCOR1 ADNP PRDM10 MTA2 E2F5 PPT1 TRIT1 ENSG00000202222 CAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000005171 727 1201 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF207

Genomic Location for PPT1 Gene

Chromosome:
1
Start:
40,071,461 bp from pter
End:
40,097,727 bp from pter
Size:
26,267 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:
    • Interacts with CLN5 (PubMed:19941651). Interacts with ATP5A1 and ATP5B (By similarity).

    Three dimensional structures from OCA and Proteopedia for PPT1 Gene

    Alternative splice isoforms for PPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPT1 Gene

Selected DME Specific Peptides for PPT1 Gene

P50897:
  • EDVENSFFLNVN
  • IVDPVDSEWFGFYRSGQAKETIPLQE
  • SVGGQHQGVFG
  • KDPKLQQGYNA
  • NLMALKKFVMVKF
  • PLVIWHGMGDSCCNP
  • SIFLADIN
  • CCNPLSMG

Post-translational modifications for PPT1 Gene

Domains & Families for PPT1 Gene

Gene Families for PPT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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 (PubMed:8816748).

Enzyme Numbers (IUBMB) for PPT1 Gene

Phenotypes From GWAS Catalog for PPT1 Gene

Gene Ontology (GO) - Molecular Function for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19941651
GO:0008474 palmitoyl-(protein) hydrolase activity IEA,TAS --
GO:0016290 palmitoyl-CoA hydrolase activity ISS --
GO:0016787 hydrolase activity IEA --
GO:0098599 palmitoyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPT1: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PPT1
  • Applied Biological Materials Clones for PPT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for PPT1 Gene

Localization for PPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPT1 Gene

Lysosome. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPT1 gene
Compartment Confidence
extracellular 5
nucleus 5
lysosome 5
golgi apparatus 5
cytosol 4
mitochondrion 1
endoplasmic reticulum 1
endosome 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 N --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPT1 Gene

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:0007040 lysosome organization N --
GO:0007042 lysosomal lumen acidification IMP 11722572
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

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

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

(6) 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
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

Clone Products

  • Addgene plasmids for PPT1
  • Applied Biological Materials Clones for PPT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PPT1 Gene



Protein tissue co-expression partners for PPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPT1 Gene:

PPT1

SOURCE GeneReport for Unigene cluster for PPT1 Gene:

Hs.3873

Evidence on tissue expression from TISSUES for PPT1 Gene

  • Nervous system(5)
  • Liver(4.3)
  • Blood(4)
  • Kidney(3.8)
  • Lung(3.6)
  • Spleen(3.4)
  • Eye(3.3)
  • Skin(3.1)
  • Intestine(3)
  • Pancreas(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • heart
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PPT1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PPT1 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia PPT1 33 34
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia CLN1 34
  • 91 (a)
OneToOne
PPT1 33
  • 90.27 (n)
mouse
(Mus musculus)
Mammalia Ppt1 33 16 34
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Ppt1 33
  • 84.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PPT1 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPT1 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPT1 33 34
  • 72.3 (n)
lizard
(Anolis carolinensis)
Reptilia PPT1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt1 33
  • 68.24 (n)
zebrafish
(Danio rerio)
Actinopterygii ppt1 33 34
  • 66.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppt1 35 33 34
  • 58.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001058 33
  • 57.97 (n)
worm
(Caenorhabditis elegans)
Secernentea ppt-1 35 33 34
  • 56.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G60340 33
  • 46.16 (n)
rice
(Oryza sativa)
Liliopsida Os03g0101100 33
  • 44.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9019 34
  • 57 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06530 33
  • 48.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pdf1 33
  • 45.98 (n)
Species where no ortholog for PPT1 was found in the sources mined by GeneCards:
  • 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
rs137852695 Pathogenic, Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] 40,091,398(-) GTAGG(A/T)GGGCA intron-variant, reference, missense
rs137852696 Pathogenic, Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] 40,092,409(-) GGAAG(A/C)CCCTG intron-variant, reference, missense
rs137852697 Pathogenic, Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] 40,092,171(-) TTAGG(A/G)CGTGG intron-variant, reference, missense
rs137852698 Pathogenic, Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] 40,078,630(-) AAACC(A/T)GATGG reference, missense
rs137852701 Pathogenic, Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730] 40,092,085(-) AGCAA(C/G)GCTAC intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv35n67 CNV loss 20364138
esv2663819 CNV deletion 23128226
esv2747330 CNV deletion 23290073
esv2750836 CNV gain 17911159
esv2758933 CNV loss 17122850
esv3585798 CNV loss 21293372
esv6823 CNV loss 19470904
nsv10128 CNV loss 18304495
nsv1133843 CNV deletion 24896259
nsv1133844 CNV deletion 24896259
nsv476221 CNV novel sequence insertion 20440878
nsv829660 CNV gain+loss 17160897

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

Human Gene Mutation Database (HGMD)
PPT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPT1

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

Disorders for PPT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 1
  • neuronal ceroid lipofuscinosis 1
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
ceroid lipofuscinosis, neuronal, 3
  • batten disease
adult neuronal ceroid lipofuscinosis
  • adult ncl
- 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:19941651, 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. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. (PMID: 19941651) Lyly A … Kyttälä A (BMC cell biology 2009) 3 4 22 60
  2. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M … Lehesjoki AE (Brain : a journal of neurology 2009) 3 4 45 60
  3. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. (PMID: 11506414) van Diggelen OP … Voznyi YV (Annals of neurology 2001) 3 4 22 60
  4. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. (PMID: 9664077) Das AK … Hofmann SL (The Journal of clinical investigation 1998) 3 4 22 60
  5. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (PMID: 9425237) Mitchison HM … O'Rawe AM (Human molecular genetics 1998) 3 4 22 60

Products for PPT1 Gene

  • Addgene plasmids for PPT1

Sources for PPT1 Gene

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