Zmpste24 zinc metallopeptidase, STE24 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Zmpste24provided by MGI
Official Full Name: zinc metallopeptidase, STE24provided by MGI
Primary source: MGI:MGI:1890508
See related: Ensembl:ENSMUSG00000043207 AllianceGenome:MGI:1890508
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MADB; FACE1; STE24; Face-1; Ste24p; D030046F19; A530043O15Rik
Summary: Enables double-stranded DNA binding activity and metalloendopeptidase activity. Involved in nuclear envelope organization and protein maturation. Acts upstream of or within several processes, including heart development; regulation of gene expression; and regulation of intracellular signal transduction. Located in membrane and nuclear envelope. Is expressed in early conceptus and oocyte. Used to study Emery-Dreifuss muscular dystrophy; familial partial lipodystrophy; and progeria. Human ortholog(s) of this gene implicated in mandibuloacral dysplasia type B lipodystrophy; restrictive dermopathy; and restrictive dermopathy 1. Orthologous to human ZMPSTE24 (zinc metallopeptidase STE24). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 16.8), placenta adult (RPKM 12.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 56.8 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (120916434..120955452, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (121059237..121098249, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Accelerated aging in articular cartilage by ZMPSTE24 deficiency leads to osteoarthritis with impaired metabolic signaling and epigenetic regulation.
Title: Accelerated aging in articular cartilage by ZMPSTE24 deficiency leads to osteoarthritis with impaired metabolic signaling and epigenetic regulation.
Accelerated aging phenotypes in the retinal pigment epithelium of Zmpste24-deficient mice.
Title: Accelerated aging phenotypes in the retinal pigment epithelium of Zmpste24-deficient mice.
The Integral Membrane Protein ZMPSTE24 Protects Cells from SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia Formation.
Title: The Integral Membrane Protein ZMPSTE24 Protects Cells from SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia Formation.
Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice.
Title: Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice.
Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency.
Title: Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency.
Deficiency in ZMPSTE24 and resulting farnesyl-prelamin A accumulation only modestly affect mouse adipose tissue stores.
Title: Deficiency in ZMPSTE24 and resulting farnesyl-prelamin A accumulation only modestly affect mouse adipose tissue stores.
Loss of lamin A in Lmna-knockout mouse embryonic fibroblasts (MEFs) confers increased CK2 activity. Conversely, prelamin A that accumulates in Zmpste24-deficent MEFs exhibits a high CK2alpha binding affinity and concomitantly reduces CK2 kinase activity
Title: Lamin A buffers CK2 kinase activity to modulate aging in a progeria mouse model.
These results indicate that the absence of Zmpste24 in aging mice results in impaired lung fibrotic response after injury, which is likely associated to the dysregulation of fibrosis-related miRNAs.
Title: Accelerated aging induced by deficiency of Zmpste24 protects old mice to develop bleomycin-induced pulmonary fibrosis.
these findings suggest that downregulated miR3425p is involved in regulating cell proliferation and cell cycles in Zmpste24/ MEFs by suppressing GAS2 in vitro.
Title: miR‑342‑5p promotes Zmpste24‑deficient mouse embryonic fibroblasts proliferation by suppressing GAS2.
ZMPSTE24 is a downstream effector of IFITM3 and is important for interferon-induced transmembrane antiviral activity.
Title: ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

General gene information

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Markers

AI175477 (e-PCR)
- UniSTS:250130

Zmpste24 (e-PCR), detects polymorphism
- UniSTS:265097

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables double-stranded DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in CAAX-box protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in CAAX-box protein processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within CAMKK-AMPK signaling cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA repair	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone mineralization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within calcium ion import into sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac ventricle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromatin organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epigenetic regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within growth plate cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of rDNA	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of miRNA processing	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of miRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear envelope organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nuclear envelope organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within nuclear envelope organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear envelope organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nucleus organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression via chromosomal CpG island demethylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within prenylated protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA damage response, signal transduction by p53 class mediator	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of blood circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of bone mineralization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cellular senescence	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of defense response to virus	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of hormone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mitotic cell cycle DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of stress-activated protein kinase signaling cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of termination of RNA polymerase I transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: CAAX prenyl protease 1 homolog

Names: farnesylated-proteins converting enzyme 1; prenyl protein-specific endoprotease 1; zinc metallopeptidase, STE24 homolog; zinc metalloproteinase, STE24 homolog

NP_766288.1

EC 3.4.24.84

XP_006503082.1

EC 3.4.24.84

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172700.3 → NP_766288.1 CAAX prenyl protease 1 homolog

See identical proteins and their annotated locations for NP_766288.1

Status: VALIDATED

Source sequence(s)

AL669949

Consensus CDS

CCDS18600.1

UniProtKB/Swiss-Prot

Q80W54, Q8BJK4, Q8K569

UniProtKB/TrEMBL

B9EHY2

Related

ENSMUSP00000053900.3, ENSMUST00000058754.9

Conserved Domains (3) summary

COG0501
Location:124 → 474

HtpX; Zn-dependent protease with chaperone function [Posttranslational modification, protein turnover, chaperones]

pfam01435
Location:228 → 471

Peptidase_M48; Peptidase family M48

pfam16491
Location:41 → 225

Peptidase_M48_N; CAAX prenyl protease N-terminal, five membrane helices

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

120916434..120955452 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503019.2 → XP_006503082.1 CAAX prenyl protease 1 homolog isoform X1

See identical proteins and their annotated locations for XP_006503082.1

Conserved Domains (1) summary

cd07343
Location:22 → 490

M48A_Zmpste24p_like; Peptidase M48 subfamily A, a type 1 CaaX endopeptidase