Property Summary

NCBI Gene PubMed Count 15
PubMed Score 29.80
PubTator Score 17.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
lung carcinoma 2844 6.37195820039679E-27
juvenile dermatomyositis 1189 3.37523603449007E-12
atypical teratoid / rhabdoid tumor 4369 4.68512978730269E-10
Duchenne muscular dystrophy 602 1.84199495010079E-9
lung adenocarcinoma 2714 1.22812824052252E-7
acute quadriplegic myopathy 1157 2.01774969155745E-7
medulloblastoma, large-cell 6234 7.53765773726545E-7
posterior fossa group A ependymoma 1511 6.82121850885919E-6
Amyotrophic Lateral Sclerosis 432 6.85550367579556E-6
hepatocellular carcinoma 550 6.90063007410574E-6
medulloblastoma 1524 2.794302090601E-5
ovarian cancer 8492 5.13106174341411E-5
Pick disease 1893 5.46548802893095E-5
limb girdle muscular dystrophy 2A 156 8.46381163088313E-5
tuberculosis and treatment for 6 months 686 1.07512621258645E-4
osteosarcoma 7933 2.90946126857023E-4
adult high grade glioma 2148 6.15962862265049E-4
pilocytic astrocytoma 3086 6.72742298524666E-4
glioblastoma 5572 0.00151485986959867
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00227462812335835
gastric cancer 436 0.00287552568767961
primitive neuroectodermal tumor 3031 0.00326541490576818
hereditary spastic paraplegia 313 0.00548286680662863
Parkinson's disease 364 0.00874012093113765
lung cancer 4473 0.00930625394836845
non primary Sjogren syndrome sicca 840 0.0182026292022704
astrocytic glioma 2241 0.0183635299906711
breast carcinoma 1614 0.0198443500248911
dermatomyositis 967 0.0220632368569521
subependymal giant cell astrocytoma 2287 0.0330046725934277
Alzheimer's disease 644 0.0416892188162894
oligodendroglioma 2849 0.0492799394793134

Expression

Gene

PANTHER Protein Class (3)

  Ortholog (13)

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
2751 screening 2222 / 0 / 322636 Fluorescence polarization-based primary biochemical high throughput screening assay to identify inhibitors of the prolyl oligopeptidase-like enzyme (PREPL)
2760 summary 0 / 0 / 0 Summary of probe development efforts to identify inhibitors of the prolyl oligopeptidase-like enzyme (PREPL)
2803 screening 1334 / 0 / 653 Fluorescence polarization-based biochemical high throughput confirmation assay to identify inhibitors of the prolyl oligopeptidase-like enzyme (PREPL)

Gene RIF (8)

PMID Text
23794250 Deletion of PREPL is associated with Hypotonia-cystinuria syndrome.
22796000 Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.
19575798 Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner.
18234729 a deletion of PREPL causes atypical hypotonia-cystinuria syndrome
16913837 Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency
16385448 Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
16143824 A 638-residue variant of PREPL, PREPL A, was identifiied, expressed in Escherichia coli and purified; its secondary structure was similar to that of oligopeptidase B.
12225859 description of L-leucine transport into bladder carcinoma cells

AA Sequence

MQQKTKLFLQALKYSIPHLGKCMQKQHLNHYNFADHCYNRIKLKKYHLTKCLQNKPKISELARNIPSRSF      1 - 70
SCKDLQPVKQENEKPLPENMDAFEKVRTKLETQPQEEYEIINVEVKHGGFVYYQEGCCLVRSKDEEADND     71 - 140
NYEVLFNLEELKLDQPFIDCIRVAPDEKYVAAKIRTEDSEASTCVIIKLSDQPVMEASFPNVSSFEWVKD    141 - 210
EEDEDVLFYTFQRNLRCHDVYRATFGDNKRNERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTTSEVWLI    211 - 280
DGLSPWDPPVLIQKRIHGVLYYVEHRDDELYILTNVGEPTEFKLMRTAADTPAIMNWDLFFTMKRNTKVI    281 - 350
DLDMFKDHCVLFLKHSNLLYVNVIGLADDSVRSLKLPPWACGFIMDTNSDPKNCPFQLCSPIRPPKYYTY    351 - 420
KFAEGKLFEETGHEDPITKTSRVLRLEAKSKDGKLVPMTVFHKTDSEDLQKKPLLVHVYGAYGMDLKMNF    421 - 490
RPERRVLVDDGWILAYCHVRGGGELGLQWHADGRLTKKLNGLADLEACIKTLHGQGFSQPSLTTLTAFSA    491 - 560
GGVLAGALCNSNPELVRAVTLEAPFLDVLNTMMDTTLPLTLEELEEWGNPSSDEKHKNYIKRYCPYQNIK    561 - 630
PQHYPSIHITAYENDERVPLKGIVSYTEKLKEAIAEHAKDTGEGYQTPNIILDIQPGGNHVIEDSHKKIT    631 - 700
AQIKFLYEELGLDSTSVFEDLKKYLKF                                               701 - 727
//

Text Mined References (18)

PMID Year Title
23794250 2013 Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22796000 2012 Two novel deletions in hypotonia-cystinuria syndrome.
19575798 2009 Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
18234729 2008 Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
16913837 2006 PREPL: a putative novel oligopeptidase propelled into the limelight.
16385448 2006 Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16143824 2005 The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity.
15913950 2005 The 2p21 deletion syndrome: characterization of the transcription content.
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