Property Summary

NCBI Gene PubMed Count 53
Grant Count 117
R01 Count 56
Funding $18,809,918.13
PubMed Score 459.36
PubTator Score 351.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.731 0.018
Multiple myeloma 2.095 0.000
astrocytoma 1.100 0.007
Duchenne muscular dystrophy 1.050 0.000
tuberculosis 1.100 0.000
intraductal papillary-mucinous adenoma (... -1.100 0.013
diabetes mellitus -1.500 0.004
Breast cancer 2.100 0.048
invasive ductal carcinoma 1.200 0.001
ulcerative colitis 1.400 0.000
ovarian cancer 1.800 0.002

Synonym

Accession P50897 B4DY24 Q6FGQ4 PPT-1
Symbols PPT
CLN1
INCL

Gene

PANTHER Protein Class (2)

PDB

3GRO  

Gene RIF (20)

PMID Text
26731412 we reveal the existence of a positive feedback loop, where palmitoylation of PPT1 results in decreased activity and subsequent elevation in the amount of palmitoylated proteins.
25865307 analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells
25233404 Data (including data from knockout mice) suggest that deficiency of PPT1 leads to accumulation of granular osmiophilic deposits in many cell types, especially in astrocytes. [review-like article]
24083319 Data suggest that human monocytes and macrophages express PPT1; PPT1 appears to contribute 32-40% of 2-arachidonylglycerol hydrolysis activity in THP1 monocyte cell line.
22520356 This neuroimaging finding in PPT1-related neuronal ceroid lipofuscinosis was not previously reported.
21704547 Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from Infantile neuronal ceroid lipofuscinosis patients.
19793631 Results describe the correlation between the three-dimensional structural changes in mutant palmitoyl protein thioesterase 1 and biochemical phenotypes.
19302939 study presents clinical and diagnostic investigations in six children with variant late infantile neuronal ceroid lipofuscinosis and mutations in CLN1 including a new large-scale deletion on one allele
19201763 Observational study of gene-disease association. (HuGE Navigator)
19165527 Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
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AA Sequence

MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSL      1 - 70
EIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVG     71 - 140
GQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERG    141 - 210
INESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQL    211 - 280
VFLATEGDHLQLSEEWFYAHIIPFLG                                                281 - 306
//

Text Mined References (58)

PMID Year Title
26731412 2016 Reversible Cysteine Acylation Regulates the Activity of Human Palmitoyl-Protein Thioesterase 1 (PPT1).
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25865307 2015 Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells.
25233404 2014 Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24083319 2013 Identification of palmitoyl protein thioesterase 1 in human THP1 monocytes and macrophages and characterization of unique biochemical activities for this enzyme.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22520356 2012 Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis.
21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
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