ZMPSTE24 zinc metallopeptidase STE24 homolog (S. cerevisiae) [Homo sapiens] - Gene

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Summary

Official Symbol: ZMPSTE24provided by HGNC
Official Full Name: zinc metallopeptidase STE24 homolog (S. cerevisiae)provided by HGNC
Primary source: HGNC:12877
See related: Ensembl:ENSG00000084073; HPRD:07349; MIM:606480; Vega:OTTHUMG00000005762
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; STE24; FACE-1; Ste24p; FLJ14968
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]

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Genomic context

Location :: 1p34

Sequence :: Chromosome: 1; NC_000001.10 (40723733..40759856)

See ZMPSTE24 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A report of a novel and a previously reported homozygous null mutation in ZMPSTE24 in two newborns with restrictive dermopathy.
Title: Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
Three of 87 patients with metabolic syndrome carry a heterozygous mutation in LMNA or in ZMPSTE24.
Title: High prevalence of laminopathies among patients with metabolic syndrome.
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.
Title: Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Data show that mandibuloacral dysplasia associated with ZMPSTE24 mutations has a more severe phenotype than that associated with lamin A mutations.
Title: Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.
ZMPSTE24 mutations are associated with dermopathy.
Title: Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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
Title: Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
results suggest that LMNA, ZMPSTE24, and LBR sequence variations are not major genetic determinants involved in scleroderma pathogenesis
Title: LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study.
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]
Title: ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders.

Submit: New GeneRIF Correction See all (20)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:115560	BioGRID:110455	MME		BioGRID	PubMed	Affinity Capture-MS
BioGRID:115560	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
metalloexopeptidase activity	TAS Traceable Author Statement more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
metabolic process	IEA Inferred from Electronic Annotation more info
nuclear envelope organization	IEA Inferred from Electronic Annotation more info
prenylated protein catabolic process	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi membrane	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: CAAX prenyl protease 1 homolog

Names: CAAX prenyl protease 1 homolog; zinc metalloproteinase Ste24 homolog; prenyl protein-specific endoprotease 1; farnesylated proteins-converting enzyme 1

NP_005848.2

EC 3.4.24.84

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NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

NM_005857.4 → NP_005848.2 CAAX prenyl protease 1 homolog

Status: REVIEWED

Source sequence(s)

AA436253, AB016068, AK075007, DA398037, DB096663

Consensus CDS

CCDS449.1

UniProtKB/Swiss-Prot

O75844

Related

ENSP00000361845, OTTHUMP00000006394, ENST00000372759, OTTHUMT00000015766

Conserved Domains (1) summary

cl12018
Location:214 – 468
Blast Score: 469

Peptidase_M48; Peptidase family M48

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

40723733..40759856

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

38842534..38878354

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL050341.18	CAB81610.1
genomic	CH471059.2	EAX07233.1
		EAX07234.1
genomic	CQ782720.1	CAF85955.1
genomic	CQ782995.1	CAF86212.1
mRNA	AA436253.1	None
mRNA	AB016068.1	BAA33727.1
mRNA	AF064867.1	AAC68866.1
mRNA	AI003768.1	None
mRNA	AK027874.1	BAG51388.1
mRNA	AK074784.1	None
mRNA	AK075007.1	BAG52049.1
mRNA	BC037283.1	AAH37283.1
mRNA	DA398037.1	None
mRNA	DB096663.1	None
mRNA	DB285015.1	None
mRNA	Y13834.1	CAB46277.1
other-genetic	EU176257.1	ABW03708.1
other-genetic	EU176564.1	ABW03365.1