Zinc metalloproteinase STE24

ZMPSTE24
Identifiers
Aliases	ZMPSTE24, FACE-1, FACE1, HGPS, PRO1, STE24, Ste24p, zinc metallopeptidase STE24, RSDM1
External IDs	OMIM: 606480; MGI: 1890508; GeneCards: ZMPSTE24
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YPT, 4AW6
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.4.24.84 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.2 Start 40,258,041 bp End 40,294,180 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D2.2 Start 120,916,434 bp End 120,955,438 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in hair follicle Epithelium of choroid plexus kidney tubule tibia germinal epithelium mucosa of ileum mucosa of sigmoid colon right ventricle gingival epithelium islet of Langerhans Top expressed in vestibular membrane of cochlear duct saccule external carotid artery internal carotid artery otic vesicle Epithelium of choroid plexus otic placode endothelial cell of lymphatic vessel carotid body morula More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity metalloexopeptidase activity hydrolase activity metallopeptidase activity metal ion binding metalloendopeptidase activity protein binding double-stranded DNA binding endopeptidase activity Cellular component integral component of membrane nuclear inner membrane extracellular exosome endoplasmic reticulum membrane endoplasmic reticulum membrane nucleus integral component of endoplasmic reticulum membrane nuclear envelope protein-containing complex Biological process prenylated protein catabolic process nuclear envelope organization proteolysis CAAX-box protein processing liver development hair follicle development heart morphogenesis ventricular cardiac muscle tissue development cardiac ventricle development growth plate cartilage development DNA repair chromatin organization regulation of transcription, DNA-templated inflammatory cell apoptotic process cellular response to DNA damage stimulus nucleus organization regulation of mitotic cell cycle adult walking behavior regulation of heart contraction determination of adult lifespan regulation of cell shape epidermis development regulation of autophagy positive regulation of gene expression negative regulation of gene expression regulation of glucose metabolic process protein processing regulation of lipid metabolic process bone mineralization regulation of bone mineralization regulation of TOR signaling regulation of hormone metabolic process multicellular organism growth regulation of multicellular organism growth maintenance of rDNA regulation of DNA damage response, signal transduction by p53 class mediator histone H2B acetylation histone H2B-K5 acetylation hypomethylation of CpG island regulation of DNA methylation cellular lipid metabolic process regulation of fibroblast proliferation thymus development regulation of defense response to virus neuromuscular process chromosome organization regulation of ventricular cardiac muscle cell membrane repolarization kidney morphogenesis cardiac conduction CAMKK-AMPK signaling cascade regulation of stress-activated protein kinase signaling cascade cellular response to gamma radiation response to DNA damage checkpoint signaling regulation of histone H4 acetylation regulation of RNA polymerase II regulatory region sequence-specific DNA binding regulation of mitotic cell cycle DNA replication regulation of blood circulation negative regulation of production of miRNAs involved in gene silencing by miRNA calcium ion import into sarcoplasmic reticulum regulation of histone H4-K16 acetylation regulation of termination of RNA polymerase I transcription regulation of cellular senescence Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 10269 230709 Ensembl ENSG00000084073 ENSMUSG00000043207 UniProt O75844 Q80W54 RefSeq (mRNA) NM_005857 NM_172700 RefSeq (protein) NP_005848 NP_766288 Location (UCSC) Chr 1: 40.26 – 40.29 Mb Chr 4: 120.92 – 120.96 Mb PubMed search
Wikidata
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zinc metalloproteinase STE24
Identifiers
Symbol	ZMPSTE24
Alt. symbols	FACE1, STE24, FACE-1, Ste24p, FLJ14968
NCBI gene	10269
HGNC	12877
OMIM	606480
RefSeq	NM_005857
UniProt	O75844
Other data
EC number	3.4.24.84
Locus	Chr. 1 p34
Search for Structures Swiss-model Domains InterPro

Zinc metalloproteinase STE24 is a metalloproteinase enzyme associated with laminopathies encoded in humans by the ZMPSTE24 gene.

Zinc metalloproteinase STE24 is involved in the processing of lamin A. Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, because the latter is a substrate for the former. In humans, a mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder. Failure to correctly process prelamin A leads to deficient ability to repair DNA double-strand breaks.

As shown by Liu et al., lack of Zmpste24 prevents lamin A formation from its precursor farnesyl-prelamin A. Lack of ZMPSTE24 causes progeroid phenotypes in mice and humans. This lack increases DNA damage and chromosome aberrations and sensitivity to DNA-damaging agents that cause double-strand breaks. Also, lack of ZMPSTE24 allows an increase in non-homologous end joining, but a deficiency in steps leading to homologous recombinational DNA repair.