Details for: PPT1

Gene ID: 5538

Symbol: PPT1

Ensembl ID: ENSG00000131238

Description: palmitoyl-protein thioesterase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 265.4533
    Cell Significance Index: -41.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.6021
    Cell Significance Index: -33.3800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 109.4314
    Cell Significance Index: -45.0800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 98.3855
    Cell Significance Index: -46.4500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 97.2783
    Cell Significance Index: -39.5200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 87.5803
    Cell Significance Index: -45.0500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 41.6866
    Cell Significance Index: -39.8000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 36.4003
    Cell Significance Index: -44.8800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.7554
    Cell Significance Index: -34.1700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.1311
    Cell Significance Index: -37.2600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.6623
    Cell Significance Index: -46.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.8218
    Cell Significance Index: -14.9300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.3418
    Cell Significance Index: 61.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.4314
    Cell Significance Index: 49.7400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.3433
    Cell Significance Index: 218.4800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.2740
    Cell Significance Index: 94.9500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0401
    Cell Significance Index: 939.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9969
    Cell Significance Index: 52.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9606
    Cell Significance Index: 111.9500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9113
    Cell Significance Index: 116.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8985
    Cell Significance Index: 123.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8077
    Cell Significance Index: 162.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6746
    Cell Significance Index: 73.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5373
    Cell Significance Index: 102.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4983
    Cell Significance Index: 220.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4975
    Cell Significance Index: 10.6000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4666
    Cell Significance Index: 28.0100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.4617
    Cell Significance Index: 12.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4376
    Cell Significance Index: 156.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4170
    Cell Significance Index: 75.1700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4011
    Cell Significance Index: 49.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3643
    Cell Significance Index: 16.9900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3626
    Cell Significance Index: 7.5900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3609
    Cell Significance Index: 9.4900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3062
    Cell Significance Index: 211.7500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2925
    Cell Significance Index: 37.8000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2317
    Cell Significance Index: 126.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2114
    Cell Significance Index: 41.9600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2078
    Cell Significance Index: 14.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1916
    Cell Significance Index: 5.2200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1643
    Cell Significance Index: 11.6200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1623
    Cell Significance Index: 2.2200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1570
    Cell Significance Index: 4.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1501
    Cell Significance Index: 14.8500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1313
    Cell Significance Index: 6.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0525
    Cell Significance Index: 8.9600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0465
    Cell Significance Index: 2.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0242
    Cell Significance Index: 2.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0233
    Cell Significance Index: 2.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0069
    Cell Significance Index: 0.1500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0030
    Cell Significance Index: -5.6000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0035
    Cell Significance Index: -2.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0094
    Cell Significance Index: -6.9100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0102
    Cell Significance Index: -6.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0156
    Cell Significance Index: -11.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0203
    Cell Significance Index: -37.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0221
    Cell Significance Index: -0.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0244
    Cell Significance Index: -37.5700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0334
    Cell Significance Index: -45.3800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0384
    Cell Significance Index: -21.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0442
    Cell Significance Index: -28.0900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0708
    Cell Significance Index: -2.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0770
    Cell Significance Index: -34.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0910
    Cell Significance Index: -19.1800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1082
    Cell Significance Index: -2.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1149
    Cell Significance Index: -5.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1272
    Cell Significance Index: -36.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1280
    Cell Significance Index: -8.0700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1752
    Cell Significance Index: -4.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1894
    Cell Significance Index: -12.2200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1919
    Cell Significance Index: -21.9900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2116
    Cell Significance Index: -2.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2306
    Cell Significance Index: -11.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2408
    Cell Significance Index: -35.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2634
    Cell Significance Index: -17.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2999
    Cell Significance Index: -16.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3135
    Cell Significance Index: -19.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3170
    Cell Significance Index: -11.1400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3256
    Cell Significance Index: -2.6600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3311
    Cell Significance Index: -4.2400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3347
    Cell Significance Index: -38.2100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3942
    Cell Significance Index: -10.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4089
    Cell Significance Index: -31.3800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.4224
    Cell Significance Index: -7.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4313
    Cell Significance Index: -44.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4559
    Cell Significance Index: -12.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4978
    Cell Significance Index: -22.0200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5271
    Cell Significance Index: -41.7500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5328
    Cell Significance Index: -20.1800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.5704
    Cell Significance Index: -6.4800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5913
    Cell Significance Index: -36.2500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.7183
    Cell Significance Index: -10.9100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.7619
    Cell Significance Index: -8.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.7815
    Cell Significance Index: -20.9400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.8881
    Cell Significance Index: -15.2200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.9768
    Cell Significance Index: -28.7700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.9785
    Cell Significance Index: -34.2800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9820
    Cell Significance Index: -32.1500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.9897
    Cell Significance Index: -25.4400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.0025
    Cell Significance Index: -31.9300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PPT1 is a calcium-dependent lipase that is primarily expressed in lysosomes and Golgi apparatus. It is a member of the lipase family and shares structural and functional similarities with other lipases, such as hormone-stimulated lipase (HSL). PPT1 is also known as hormone-stimulated lipase (HSL) and is involved in the regulation of protein lipidation. The enzyme has a unique ability to hydrolyze palmitoyl groups from proteins, which is essential for the proper functioning of various cellular processes. **Pathways and Functions:** PPT1 is involved in several key pathways, including: 1. **Protein Lipidation:** PPT1 plays a critical role in the removal of palmitoyl groups from proteins, which is essential for the proper functioning of various cellular processes, including protein function, signaling, and immune response. 2. **Lipid Metabolism:** PPT1 is involved in the regulation of lipid metabolism, including fatty acid metabolism and sphingolipid catabolism. 3. **Immune Response:** PPT1 is expressed in various immune cells, including macrophages, monocytes, and dendritic cells, and plays a critical role in the regulation of immune responses. 4. **Neurological Function:** PPT1 is involved in the regulation of neuronal function and is expressed in the nervous system, where it plays a critical role in the regulation of synaptic vesicle formation and neurotransmitter release. **Clinical Significance:** PPT1 has been implicated in various diseases, including: 1. **Alzheimer's Disease:** PPT1 has been shown to be involved in the regulation of amyloid-beta production and has been implicated in the pathogenesis of Alzheimer's disease. 2. **Neurodegenerative Disorders:** PPT1 has been implicated in the regulation of neuronal function and has been shown to be involved in various neurodegenerative disorders, including Parkinson's disease and Huntington's disease. 3. **Immune-Mediated Disorders:** PPT1 has been implicated in the regulation of immune responses and has been shown to be involved in various immune-mediated disorders, including rheumatoid arthritis and multiple sclerosis. In conclusion, PPT1 is a critical regulator of protein lipidation and immune function. Its dysregulation has been implicated in various diseases, including Alzheimer's disease, neurodegenerative disorders, and immune-mediated disorders. Further research is needed to fully understand the role of PPT1 in human health and disease. **Implications for Immunology:** PPT1 plays a critical role in the regulation of immune responses and has been implicated in various immune-mediated disorders. Its dysregulation has been shown to lead to impaired immune function and increased susceptibility to infections. Understanding the role of PPT1 in immune function can provide insights into the development of novel immunotherapies for various immune-mediated disorders. **Implications for Neurology:** PPT1 is involved in the regulation of neuronal function and has been implicated in various neurodegenerative disorders. Its dysregulation has been shown to lead to impaired neuronal function and increased susceptibility to neurodegenerative disorders. Understanding the role of PPT1 in neuronal function can provide insights into the development of novel therapeutics for various neurodegenerative disorders. **Implications for Lipid Metabolism:** PPT1 plays a critical role in the regulation of lipid metabolism and has been implicated in various lipid-related disorders. Its dysregulation has been shown to lead to impaired lipid metabolism and increased susceptibility to lipid-related disorders. Understanding the role of PPT1 in lipid metabolism can provide insights into the development of novel therapeutics for various lipid-related disorders.

Genular Protein ID: 3591285886

Symbol: PPT1_HUMAN

Name: Palmitoyl-protein thioesterase 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7637805

Title: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

PubMed ID: 7637805

DOI: 10.1038/376584a0

PubMed ID: 8633062

Title: Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis.

PubMed ID: 8633062

DOI: 10.1073/pnas.93.9.4316

PubMed ID: 8786130

Title: cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis.

PubMed ID: 8786130

DOI: 10.1006/geno.1996.0292

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8816748

Title: Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.

PubMed ID: 8816748

DOI: 10.1073/pnas.93.19.10046

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 9425237

Title: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

PubMed ID: 9425237

DOI: 10.1093/hmg/7.2.291

PubMed ID: 9664077

Title: Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

PubMed ID: 9664077

DOI: 10.1172/jci3112

PubMed ID: 11506414

Title: Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

PubMed ID: 11506414

DOI: 10.1002/ana.1103

PubMed ID: 19941651

Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.

PubMed ID: 19941651

DOI: 10.1186/1471-2121-10-83

PubMed ID: 19201763

Title: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 19201763

DOI: 10.1093/brain/awn366

PubMed ID: 21990111

Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PubMed ID: 21990111

DOI: 10.1002/humu.21624

Sequence Information:

  • Length: 306
  • Mass: 34193
  • Checksum: 69F8083FD1C15E92
  • Sequence:
  • MASPGCLWLL AVALLPWTCA SRALQHLDPP APLPLVIWHG MGDSCCNPLS MGAIKKMVEK 
    KIPGIYVLSL EIGKTLMEDV ENSFFLNVNS QVTTVCQALA KDPKLQQGYN AMGFSQGGQF 
    LRAVAQRCPS PPMINLISVG GQHQGVFGLP RCPGESSHIC DFIRKTLNAG AYSKVVQERL 
    VQAEYWHDPI KEDVYRNHSI FLADINQERG INESYKKNLM ALKKFVMVKF LNDSIVDPVD 
    SEWFGFYRSG QAKETIPLQE TSLYTQDRLG LKEMDNAGQL VFLATEGDHL QLSEEWFYAH 
    IIPFLG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.