Property Summary

NCBI Gene PubMed Count 44
PubMed Score 119.60
PubTator Score 102.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.126 1.4e-02
Multiple myeloma 2.090 1.6e-04
intraductal papillary-mucinous neoplasm ... 1.500 7.1e-03
posterior fossa group A ependymoma 1.100 1.4e-10
ovarian cancer 1.900 2.7e-03

Gene RIF (32)

PMID Text
26724531 ZMPSTE24 downregulation is a major contributor in VSMC dysfunctions resulting from LMNA mutations or PI treatments that could translate in early atherosclerosis at the clinical level.
26379196 Here, we report on a familial c.50delA (p.Lys17Serfs*21) mutation of the ZMPSTE24 gene, causing RD in two siblings.
24169522 complete loss-of-function of ZMPSTE24 leads to RD, whereas other less severe phenotypes are associated with at least one haploinsufficient allele.
24101728 miR-141-3p, which is overexpressed during senescence as a result of epigenetic regulation, is able to decrease ZMPSTE24 expression levels, and leads to an upregulation of prelamin A in human mesenchymal stem cells.
23539603 Laminopathy-associated mutations predicted to reduce ZMPSTE24 activity map to the zinc metalloprotease peptide-binding site and to the bottom of the chamber.
22936788 These data implicate copper as an important factor in promoting prostate cancer cell invasion and indicate that the selective posttranslational activation of ZMP-mediated protein shedding might play a role in this process.
22718200 Characterization of disease causing mutations in the ZMPSTE24 gene, residual proteolytic activity correlates with disease severity.
21724554 Three of 87 patients with metabolic syndrome carry a heterozygous mutation in LMNA or in ZMPSTE24.
21108632 A report of a novel and a previously reported homozygous null mutation in ZMPSTE24 in two newborns with restrictive dermopathy.
20814950 In patients with mandibuloacral dysplasia due to ZMPSTE24 mutations, the onset of disease manifestations such as thin skin and micrognathia occurs as early as 5 months of age.
20635340 ZMPSTE24 mutations are associated with dermopathy.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20550970 Data show that mandibuloacral dysplasia associated with ZMPSTE24 mutations has a more severe phenotype than that associated with lamin A mutations.
20101687 study reports on two brothers affected with restrictive dermopathy; compound heterozygous frameshifting mutations were identified in exon 1 (c.50delA) and exon 5 (c.584_585delAT) of the ZMPSTE24 gene
19913121 Observational study of gene-disease association. (HuGE Navigator)
19841875 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19680556 Observational study of gene-disease association. (HuGE Navigator)
19645629 results suggest that LMNA, ZMPSTE24, and LBR sequence variations are not major genetic determinants involved in scleroderma pathogenesis
19453269 ZMPSTE24 performs a critical endoproteolytic cleavage step that removes the hydrophobic farnesyl-modified tail of prelamin A. we discuss the discovery of mammalian ZMPSTE24 & review the unexpected connection between ZMPSTE24 and premature aging[review]
19383993 glu231X mutation of ZMPSTE24 found in unrelated families with diagnosis of restrictive dermopathy and perhaps specific to India
19351612 inhibition of the prelamin A endoprotease ZMPSTE24 mostly elicits accumulation of full-length prelamin A in its farnesylated form, while loss of the prelamin A cleavage site causes accumulation of carboxymethylated prelamin A in progeria cells.
18976975 Knockdown of zinc metallopeptidase (STE24 homolog, ZMPSTE24) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18639527 In both human and mouse fibroblasts, HIV-1 protease inhibitors inhibit ZMPSTE24, resulting in a significant accumulation of prelamin A, suggesting the interaction between HIV-1 PR and ZMPSTE24
18435794 ZMPSTE24 deficiency results in accumulation of farnesylated prelamin A, which may be responsible for cellular toxicity and the MAD phenotype.
18230615 darunavir does not inhibit the biochemical activity of ZMPSTE24, nor does it lead to an accumulation of farnesyl-prelamin A in cells.
17709742 In both human and mouse fibroblasts, HIV-1 protease inhibitors inhibit ZMPSTE24, resulting in a significant accumulation of prelamin A, suggesting the interaction between HIV-1 PR and ZMPSTE24
17652517 In both human and mouse fibroblasts, HIV-1 protease inhibitors inhibit ZMPSTE24, resulting in a significant accumulation of prelamin A, suggesting the interaction between HIV-1 PR and ZMPSTE24
17352743 Accumulation of multiple forms of lamin A with down-regulation of FACE-1 suppresses growth in senescent cells.
16297189 Restrictive dermopathy is an autosomal recessive laminopathy caused by inactivating ZMPSTE24 mutations that result in defective processing and nuclear accumulation of prelamin A.
15843403 loss causes autosomal recessive restrictive dermopathy
15671064 RNA interference of FACE1 protease results in a halt of cell division and accumulation of prelamin A.
15317753 A premature termination codon mutation in the gene ZMPSTE24 leads to loss of expression of Lamin A as well as abnormal patterns of nuclear sizes and shapes.

AA Sequence

MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLY      1 - 70
QLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLP     71 - 140
WSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLV    141 - 210
LVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLF    211 - 280
DTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNII    281 - 350
ISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADA    351 - 420
FAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH                   421 - 475
//

Text Mined References (46)

PMID Year Title
26724531 2016 LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
26379196 2016 Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.
24169522 2014 New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
24101728 2013 MicroRNA-141-3p plays a role in human mesenchymal stem cell aging by directly targeting ZMPSTE24.
23539603 2013 The structural basis of ZMPSTE24-dependent laminopathies.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22936788 2012 Copper modulates zinc metalloproteinase-dependent ectodomain shedding of key signaling and adhesion proteins and promotes the invasion of prostate cancer epithelial cells.
22718200 2012 Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
21724554 2011 High prevalence of laminopathies among patients with metabolic syndrome.
21269460 2011 Initial characterization of the human central proteome.
21108632 2012 Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
20814950 2010 Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
20635340 2010 Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20550970 2010 Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.
20101687 2010 Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19841875 2010 Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study.
19680556 2009 Genetic variation in healthy oldest-old.
19645629 2009 LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
19453269 2009 ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders.
19383993 2009 Prenatal diagnosis of restrictive dermopathy.
19351612 Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18435794 2008 Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
18230615 2008 A potent HIV protease inhibitor, darunavir, does not inhibit ZMPSTE24 or lead to an accumulation of farnesyl-prelamin A in cells.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17352743 2007 Accumulation of multiple forms of lamin A with down-regulation of FACE-1 suppresses growth in senescent human cells.
17152860 2006 Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16671095 2006 A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16297189 2005 Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
15843403 2005 Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
15671064 2005 RNAi of FACE1 protease results in growth inhibition of human cells expressing lamin A: implications for Hutchinson-Gilford progeria syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15317753 2004 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12913070 2003 Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10373325 1999 Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
10076063 1999 Identification of a human cDNA encoding a novel protein structurally related to the yeast membrane-associated metalloprotease, Ste24p.
9700155 1998 Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing.