Property Summary

NCBI Gene PubMed Count 44
Grant Count 96
R01 Count 85
Funding $15,274,108.08
PubMed Score 119.60
PubTator Score 102.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Synonym

Accession O75844 B3KQI7 D3DPU7 Q8NDZ8 Q9UBQ2
Symbols HGPS
PRO1
FACE1
STE24
FACE-1
Ste24p

Gene

PANTHER Protein Class (3)

PDB

2YPT   4AW6  

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.
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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.
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