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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 61
  • 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 Fatty Acyl-CoA Biosynthesis. 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

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
GH01G040055 1.6 Ensembl ENCODE dbSUPER 32.4 +39.0 39012 6.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B ZNF766 FOS JUNB TBX21 PPT1 LOC105378668 CTPS1 ENSG00000202222 TRIT1 CAP1
GH01G040096 1.4 ENCODE dbSUPER 33.9 +0.4 442 1.2 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 PPT1 PPIEL PABPC4 ENSG00000259943 CAP1
GH01G040036 1.7 FANTOM5 ENCODE dbSUPER 26.5 +58.1 58054 7.1 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC PPT1 PPIEL CAP1 ZNF684 ZFP69 EXO5 BMP8B LOC105378669 PIR32567
GH01G040076 1.3 Ensembl ENCODE dbSUPER 32.8 +20.8 20772 1.8 PKNOX1 ATF1 JUN ZNF175 CEBPG FOSL1 IRF9 FOS ZNF362 RNF2 PPT1 CAP1 ZMPSTE24 ENSG00000231296 TRIT1 ENSG00000202222
GH01G040063 1.6 Ensembl ENCODE dbSUPER 25.8 +33.1 33083 3.2 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 PPT1 CAP1 ENSG00000259943 PABPC4 ENSG00000260920 ZMPSTE24 ENSG00000231296
- 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 703 1201 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

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:
    • 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

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 (PubMed:8816748).

Enzyme Numbers (IUBMB) 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 TAS,IEA --
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

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 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 & 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 IEA --
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

(8) 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

(7) 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

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 35 34
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPT1 34 35
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia CLN1 35
  • 91 (a)
OneToOne
PPT1 34
  • 90.27 (n)
mouse
(Mus musculus)
Mammalia Ppt1 34 16 35
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Ppt1 34
  • 84.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PPT1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPT1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPT1 34 35
  • 72.3 (n)
lizard
(Anolis carolinensis)
Reptilia PPT1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt1 34
  • 68.24 (n)
zebrafish
(Danio rerio)
Actinopterygii ppt1 34 35
  • 66.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppt1 36 34 35
  • 58.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001058 34
  • 57.97 (n)
worm
(Caenorhabditis elegans)
Secernentea ppt-1 36 34 35
  • 56.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G60340 34
  • 46.16 (n)
rice
(Oryza sativa)
Liliopsida Os03g0101100 34
  • 44.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9019 35
  • 57 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06530 34
  • 48.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pdf1 34
  • 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: 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
adult neuronal ceroid lipofuscinosis
  • adult ncl
ceroid lipofuscinosis, neuronal, 3
  • batten disease
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- 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. … KyttAolAo A. (BMC Cell Biol. 2009) 3 4 22 64
  2. 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 46 64
  3. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. (PMID: 11506414) van Diggelen O.P. … Voznyi Y.V. (Ann. Neurol. 2001) 3 4 22 64
  4. 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 22 64
  5. 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 22 64

Products for PPT1 Gene

  • Addgene plasmids for PPT1

Sources for PPT1 Gene

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