ZMPSTE24 zinc metallopeptidase STE24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZMPSTE24provided by HGNC
Official Full Name: zinc metallopeptidase STE24provided by HGNC
Primary source: HGNC:HGNC:12877
See related: Ensembl:ENSG00000084073 MIM:606480; AllianceGenome:HGNC:12877
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HGPS; PRO1; FACE1; RSDM1; STE24; FACE-1; Ste24p
Summary: This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 22.0), gall bladder (RPKM 20.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (40258236..40294180)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (40127713..40163687)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (40723908..40759852)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prelamin A and ZMPSTE24 in premature and physiological aging.
Title: Prelamin A and ZMPSTE24 in premature and physiological aging.
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Title: Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
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.
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Title: An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.
Title: Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.
ZMPSTE24 Regulates SARS-CoV-2 Spike Protein-enhanced Expression of Endothelial PAI-1.
Title: ZMPSTE24 Regulates SARS-CoV-2 Spike Protein-enhanced Expression of Endothelial PAI-1.
Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24.
Title: Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24.
Protein structural and mechanistic basis of progeroid laminopathies.
Title: Protein structural and mechanistic basis of progeroid laminopathies.
ZMPSTE24 Is Associated with Elevated Inflammation and Progerin mRNA.
Title: ZMPSTE24 Is Associated with Elevated Inflammation and Progerin mRNA.
OMA1-An integral membrane protease?
Title: OMA1-An integral membrane protease?

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mandibuloacral dysplasia with type B lipodystrophy MedGen: C1837756 OMIM: 608612 GeneReviews: Not available	Compare labs
Restrictive dermopathy 1 MedGen: C5676878 OMIM: 275210 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of zinc metallopeptidase (STE24 homolog, ZMPSTE24) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	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	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74699 (e-PCR)
- UniSTS:82196

D1S1868E (e-PCR)
- UniSTS:77591

A002U36 (e-PCR)
- UniSTS:37701

SHGC-34567 (e-PCR)
- UniSTS:49505

RH93804 (e-PCR)
- UniSTS:85861

AL009542 (e-PCR)
- UniSTS:64137

SHGC-74731 (e-PCR)
- UniSTS:23501

RH135308 (e-PCR)
- UniSTS:218585

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloexopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

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 extracellular exosome	HDA more info	PubMed
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay 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_005848.2

EC 3.4.24.84

XP_047283538.1

EC 3.4.24.84

XP_047283546.1

EC 3.4.24.84

XP_054189769.1

EC 3.4.24.84

XP_054189770.1

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.

Genomic

NG_008695.1 RefSeqGene

Range

4990..41124

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_212

mRNA and Protein(s)

NM_005857.5 → NP_005848.2 CAAX prenyl protease 1 homolog

See identical proteins and their annotated locations for NP_005848.2

Status: REVIEWED

Source sequence(s)

AA436253, AB016068, AK075007, DA398037

Consensus CDS

CCDS449.1

UniProtKB/Swiss-Prot

B3KQI7, D3DPU7, O75844, Q8NDZ8, Q9UBQ2

Related

ENSP00000361845.3, ENST00000372759.4

Conserved Domains (3) summary

COG0501
Location:124 → 475

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

pfam01435
Location:228 → 472

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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

40258236..40294180

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427590.1 → XP_047283546.1 CAAX prenyl protease 1 homolog isoform X2

UniProtKB/TrEMBL

A0A6Q8PHG9

Related

ENSP00000502683.1, ENST00000675937.1
XM_047427582.1 → XP_047283538.1 CAAX prenyl protease 1 homolog isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

40127713..40163687

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333795.1 → XP_054189770.1 CAAX prenyl protease 1 homolog isoform X2

UniProtKB/TrEMBL

A0A6Q8PHG9
XM_054333794.1 → XP_054189769.1 CAAX prenyl protease 1 homolog isoform X1