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Aliases for ZMPSTE24 Gene

Aliases for ZMPSTE24 Gene

  • Zinc Metallopeptidase STE24 2 3 5
  • Farnesylated Proteins-Converting Enzyme 1 3 4
  • Prenyl Protein-Specific Endoprotease 1 3 4
  • Zinc Metalloproteinase Ste24 Homolog 3 4
  • CAAX Prenyl Protease 1 Homolog 2 3
  • FACE-1 3 4
  • FACE1 3 4
  • STE24 3 4
  • Zinc Metallopeptidase STE24 Homolog (S. Cerevisiae) 2
  • Zinc Metalloproteinase (STE24 Homolog, Yeast) 2
  • Zinc Metallopeptidase (STE24 Homolog, Yeast) 2
  • Hutchinson-Gilford Progeria Syndrome 2
  • Zinc Metallopeptidase STE24 Homolog 3
  • EC 4
  • Ste24p 3
  • HGPS 3
  • PRO1 3

External Ids for ZMPSTE24 Gene

Previous GeneCards Identifiers for ZMPSTE24 Gene

  • GC01P040758
  • GC01P039727
  • GC01P040187
  • GC01P040137
  • GC01P040392
  • GC01P040496
  • GC01P040723
  • GC01P038842

Summaries for ZMPSTE24 Gene

Entrez Gene Summary for ZMPSTE24 Gene

  • 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]

GeneCards Summary for ZMPSTE24 Gene

ZMPSTE24 (Zinc Metallopeptidase STE24) is a Protein Coding gene. Diseases associated with ZMPSTE24 include Restrictive Dermopathy, Lethal and Mandibuloacral Dysplasia With Type B Lipodystrophy. Among its related pathways are Terpenoid backbone biosynthesis and Adipogenesis. GO annotations related to this gene include metalloendopeptidase activity and metalloexopeptidase activity.

UniProtKB/Swiss-Prot for ZMPSTE24 Gene

  • Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZMPSTE24 Gene

Genomics for ZMPSTE24 Gene

Regulatory Elements for ZMPSTE24 Gene

Enhancers for ZMPSTE24 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F040379 1.9 FANTOM5 Ensembl ENCODE 11 +134.4 134429 26.7 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D SSRP1 SMAP2 RLF PPIEL ENSG00000231296 ZMPSTE24 LOC101929901 EXO5 LOC105378672 LOC101929516 ENSG00000259943
GH01F039865 0.8 FANTOM5 22 -392.3 -392302 0.2 SMARCA5 CBX3 ZBTB2 ZNF140 ZNF366 ZSCAN16 CBX5 IKZF1 ZNF512 MLLT1 BMP8B ZMPSTE24 CAP1 TRIT1 PPIEL PPT1 EXO5 ENSG00000182109 NFYC-AS1 LOC105378672
GH01F040338 1.6 FANTOM5 Ensembl ENCODE 10.9 +81.6 81551 2.0 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B ZNF48 ZNF2 SLC30A9 ZNF143 COL9A2 ENSG00000231296 ZMPSTE24 TMCO2 EXO5 SMAP2 PPT1 RLF RPL21P20
GH01F040372 1.5 FANTOM5 ENCODE 10.6 +117.8 117803 5.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 SMAP2 PPIEL LOC105378674 ENSG00000229528 ENSG00000213987 LOC101929516 EXO5 SNORA55 PABPC4 LOC105378672
GH01F040140 1.2 FANTOM5 Ensembl ENCODE 10.8 -117.5 -117488 0.7 HLF CEBPB CEBPG GATAD2B EP300 CTBP1 JUND GATA3 MTA1 ATF3 RLF ZFP69B COL9A2 PPT1 ZMPSTE24 ENSG00000231296 TMCO2 CAP1 GC01M040138 GC01P040133
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZMPSTE24 on UCSC Golden Path with GeneCards custom track

Promoters for ZMPSTE24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076586 50 3400 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for ZMPSTE24 Gene

40,258,050 bp from pter
40,294,184 bp from pter
36,135 bases
Plus strand

Genomic View for ZMPSTE24 Gene

Genes around ZMPSTE24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZMPSTE24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZMPSTE24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZMPSTE24 Gene

Proteins for ZMPSTE24 Gene

  • Protein details for ZMPSTE24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    CAAX prenyl protease 1 homolog
    Protein Accession:
    Secondary Accessions:
    • B3KQI7
    • D3DPU7
    • Q8NDZ8
    • Q9UBQ2

    Protein attributes for ZMPSTE24 Gene

    475 amino acids
    Molecular mass:
    54813 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZMPSTE24 Gene

neXtProt entry for ZMPSTE24 Gene

Post-translational modifications for ZMPSTE24 Gene

  • Ubiquitination at Lys 46, Lys 66, Lys 251, and Lys 437
  • Modification sites at PhosphoSitePlus

Other Protein References for ZMPSTE24 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZMPSTE24 Gene

Domains & Families for ZMPSTE24 Gene

Protein Domains for ZMPSTE24 Gene

Suggested Antigen Peptide Sequences for ZMPSTE24 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The metalloprotease domain is constituted by the two C-terminal nuclear regions.
  • Belongs to the peptidase M48A family.
  • The metalloprotease domain is constituted by the two C-terminal nuclear regions.
  • Belongs to the peptidase M48A family.
genes like me logo Genes that share domains with ZMPSTE24: view

No data available for Gene Families for ZMPSTE24 Gene

Function for ZMPSTE24 Gene

Molecular function for ZMPSTE24 Gene

GENATLAS Biochemistry:
farnesylated protein converting enzyme 1,gluxinein subfamily of metalloproteinase ubiquitously expressed,CAAX prenyl protease S cerevisiae Ste24p homolog,catalyzing the first step of the proteolytic processing of farnesylated proteins,including Ras,also involved in NH2 terminal processing
UniProtKB/Swiss-Prot CatalyticActivity:
The peptide bond hydrolyzed can be designated -C- -A-A-X in which C is an S-isoprenylated cysteine residue, A is usually aliphatic and X is the C-terminal residue of the substrate protein, and may be any of several amino acids.
UniProtKB/Swiss-Prot Function:
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.

Enzyme Numbers (IUBMB) for ZMPSTE24 Gene

Gene Ontology (GO) - Molecular Function for ZMPSTE24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IBA --
GO:0008233 peptidase activity IEA --
GO:0008235 metalloexopeptidase activity TAS 10373325
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ZMPSTE24: view
genes like me logo Genes that share phenotypes with ZMPSTE24: view

Human Phenotype Ontology for ZMPSTE24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZMPSTE24 Gene

MGI Knock Outs for ZMPSTE24:

Animal Model Products

miRNA for ZMPSTE24 Gene

miRTarBase miRNAs that target ZMPSTE24

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ZMPSTE24 Gene

Localization for ZMPSTE24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZMPSTE24 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus inner membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZMPSTE24 gene
Compartment Confidence
extracellular 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ZMPSTE24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ZMPSTE24: view

Pathways & Interactions for ZMPSTE24 Gene

genes like me logo Genes that share pathways with ZMPSTE24: view

Pathways by source for ZMPSTE24 Gene

1 BioSystems pathway for ZMPSTE24 Gene
1 KEGG pathway for ZMPSTE24 Gene

Gene Ontology (GO) - Biological Process for ZMPSTE24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,TAS 10373325
GO:0006998 nuclear envelope organization IEA --
GO:0030327 prenylated protein catabolic process IEA --
GO:0071586 CAAX-box protein processing IEA,IBA --
genes like me logo Genes that share ontologies with ZMPSTE24: view

No data available for SIGNOR curated interactions for ZMPSTE24 Gene

Drugs & Compounds for ZMPSTE24 Gene

(5) Drugs for ZMPSTE24 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for ZMPSTE24 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZMPSTE24: view

Transcripts for ZMPSTE24 Gene

Unigene Clusters for ZMPSTE24 Gene

Zinc metallopeptidase STE24:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZMPSTE24 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - -
SP5: -

Relevant External Links for ZMPSTE24 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZMPSTE24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZMPSTE24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZMPSTE24 Gene

This gene is overexpressed in Nasal epithelium (56.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZMPSTE24 Gene

Protein tissue co-expression partners for ZMPSTE24 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZMPSTE24 Gene:


SOURCE GeneReport for Unigene cluster for ZMPSTE24 Gene:


mRNA Expression by UniProt/SwissProt for ZMPSTE24 Gene:

Tissue specificity: Widely expressed. High levels in kidney, prostate, testis and ovary.
genes like me logo Genes that share expression patterns with ZMPSTE24: view

Primer Products

No data available for mRNA differential expression in normal tissues for ZMPSTE24 Gene

Orthologs for ZMPSTE24 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ZMPSTE24 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZMPSTE24 34 35
  • 99.86 (n)
(Bos Taurus)
Mammalia ZMPSTE24 34 35
  • 94.16 (n)
(Canis familiaris)
Mammalia ZMPSTE24 34 35
  • 94.07 (n)
(Rattus norvegicus)
Mammalia Zmpste24 34
  • 90.15 (n)
(Mus musculus)
Mammalia Zmpste24 34 16 35
  • 90.08 (n)
(Monodelphis domestica)
Mammalia ZMPSTE24 35
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia ZMPSTE24 35
  • 77 (a)
(Gallus gallus)
Aves ZMPSTE24 34 35
  • 80.71 (n)
(Anolis carolinensis)
Reptilia aca-mir-5401 35
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia zmpste24 34
  • 75.84 (n)
Str.6615 34
(Danio rerio)
Actinopterygii zmpste24 34 35
  • 69.74 (n)
wufi45a02 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004470 34
  • 55.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta ste24a 34 35
  • 54.55 (n)
CG9000 36
  • 49 (a)
ste24b 35
  • 32 (a)
CG30461 36
  • 30 (a)
CG9001 36
  • 30 (a)
CG9002 36
  • 30 (a)
ste24c 35
  • 30 (a)
CG7573 35
  • 21 (a)
(Caenorhabditis elegans)
Secernentea fce-1 34 35
  • 51.71 (n)
C04F12.10 36
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE24 34 35 37
  • 48.94 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10846g 34
  • 47.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATSTE24 34
  • 53.68 (n)
(Glycine max)
eudicotyledons Gma.17905 34
(Oryza sativa)
Liliopsida Os02g0680400 34
  • 54.15 (n)
Os.13475 34
(Hordeum vulgare)
Liliopsida Hv.11857 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3H1.05 34
  • 50.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03637 34
  • 50.16 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.646 34
Species where no ortholog for ZMPSTE24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZMPSTE24 Gene

Gene Tree for ZMPSTE24 (if available)
Gene Tree for ZMPSTE24 (if available)

Paralogs for ZMPSTE24 Gene

No data available for Paralogs for ZMPSTE24 Gene

Variants for ZMPSTE24 Gene

Sequence variations from dbSNP and Humsavar for ZMPSTE24 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121908093 Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612], Pathogenic 40,285,988(+) GGCAC(C/T)GGAAG nc-transcript-variant, reference, missense
rs121908095 Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612], Pathogenic 40,272,009(+) CTTTC(C/G/T)TTTGA nc-transcript-variant, reference, missense
rs281875371 Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612], untested 40,281,367(+) CAGCA(A/G)TGCTT nc-transcript-variant, reference, missense
rs121908094 Pathogenic 40,258,392(+) AGCGG(C/T)AGGTG nc-transcript-variant, reference, stop-gained
rs137854889 Pathogenic 40,290,879(+) TTTTT(-/T)ATTTG nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ZMPSTE24 Gene

Variant ID Type Subtype PubMed ID
nsv829660 CNV gain+loss 17160897
nsv1126993 CNV deletion 24896259
esv3561105 CNV deletion 23714750
esv3561094 CNV deletion 23714750
esv2658928 CNV deletion 23128226

Variation tolerance for ZMPSTE24 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZMPSTE24 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZMPSTE24 Gene

Disorders for ZMPSTE24 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ZMPSTE24 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
restrictive dermopathy, lethal
  • lethal restrictive dermopathy
mandibuloacral dysplasia with type b lipodystrophy
  • lipodystrophy, type b, associated with mandibuloacral dysplasia
hutchinson-gilford progeria
  • hutchinson-gilford progeria syndrome
mandibuloacral dysplasia
  • mandibuloacral dysplasia with type a lipodystrophy
lethal restrictive dermopathy, zmpste24-related
  • hyperkeratosis-contracture syndrome, zmpste24-related
- elite association - COSMIC cancer census association via MalaCards


  • Lethal tight skin contracture syndrome (LTSCS) [MIM:275210]: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. {ECO:0000269 PubMed:15317753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. {ECO:0000269 PubMed:12913070, ECO:0000269 PubMed:17152860, ECO:0000269 PubMed:18435794, ECO:0000269 PubMed:20814950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZMPSTE24

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ZMPSTE24: view

No data available for Genatlas for ZMPSTE24 Gene

Publications for ZMPSTE24 Gene

  1. Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. (PMID: 10373325) Freije J.M.P. … Lopez-Otin C. (Genomics 1999) 2 3 4 22 64
  2. Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing. (PMID: 9700155) Tam A. … Michaelis S. (J. Cell Biol. 1998) 2 3 4 22 64
  3. Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study. (PMID: 19841875) Fontaine-Bisson B. … Morange P.E. (J. Mol. Med. 2010) 3 22 46 64
  4. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (PMID: 18435794) Miyoshi Y. … Ozono K. (Clin. Genet. 2008) 3 4 22 64
  5. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. (PMID: 16671095) Denecke J. … Marquardt T. (Hum. Mutat. 2006) 2 3 22 64

Products for ZMPSTE24 Gene

Sources for ZMPSTE24 Gene

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