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Aliases for ZMPSTE24 Gene

Aliases for ZMPSTE24 Gene

  • Zinc Metallopeptidase STE24 2 3
  • FACE1 3 4 6
  • STE24 3 4 6
  • 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
  • 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 3.4.24.84 4
  • Ste24p 3
  • HGPS 3
  • PRO1 3
  • MADB 6

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 mandibuloacral dysplasia with type b lipodystrophy and restrictive dermopathy, lethal. Among its related pathways are Adipogenesis and superpathway of cholesterol biosynthesis. 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

Genomic Location for ZMPSTE24 Gene

Start:
40,258,050 bp from pter
End:
40,294,184 bp from pter
Size:
36,135 bases
Orientation:
Plus strand

Genomic View for ZMPSTE24 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    O75844-FACE1_HUMAN
    Recommended name:
    CAAX prenyl protease 1 homolog
    Protein Accession:
    O75844
    Secondary Accessions:
    • B3KQI7
    • D3DPU7
    • Q8NDZ8
    • Q9UBQ2

    Protein attributes for ZMPSTE24 Gene

    Size:
    475 amino acids
    Molecular mass:
    54813 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZMPSTE24 Gene

neXtProt entry for ZMPSTE24 Gene

Proteomics data for ZMPSTE24 Gene at MOPED

Post-translational modifications for ZMPSTE24 Gene

  • Ubiquitination at Lys46, Lys66, Lys251, Lys314, and Lys437
  • 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 for ZMPSTE24 Gene

Protein Domains for ZMPSTE24 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZMPSTE24 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75844

UniProtKB/Swiss-Prot:

FACE1_HUMAN :
  • O75844
Domain:
  • The metalloprotease domain is constituted by the two C-terminal nuclear regions
Family:
  • 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 IEA --
GO:0008235 metalloexopeptidase activity TAS 10373325
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZMPSTE24: view
genes like me logo Genes that share phenotypes with ZMPSTE24: view

Animal Models for ZMPSTE24 Gene

MGI Knock Outs for ZMPSTE24:

Animal Model Products

CRISPR Products

miRNA for ZMPSTE24 Gene

miRTarBase miRNAs that target ZMPSTE24

No data available for Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ZMPSTE24 Gene COMPARTMENTS Subcellular localization image for ZMPSTE24 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
extracellular 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ZMPSTE24 Gene

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

Pathways 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 TAS 10373325
GO:0006998 nuclear envelope organization IEA --
GO:0030327 prenylated protein catabolic process IEA --
GO:0071586 CAAX-box protein processing IEA --
genes like me logo Genes that share ontologies with ZMPSTE24: view

Compounds for ZMPSTE24 Gene

(9) Novoseek inferred chemical compound relationships for ZMPSTE24 Gene

Compound -log(P) Hits PubMed IDs
zinc 78.6 79
batimastat 74.7 3
thermolysin 58.6 1
hydroxamate 58.1 2
tripeptide 36.9 1
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ZMPSTE24

Primer 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: - - -
SP3:
SP4:
SP5: -

Relevant External Links for ZMPSTE24 Gene

GeneLoc Exon Structure for
ZMPSTE24
ECgene alternative splicing isoforms for
ZMPSTE24

Expression for ZMPSTE24 Gene

mRNA expression in normal human tissues for ZMPSTE24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ZMPSTE24 Gene

SOURCE GeneReport for Unigene cluster for ZMPSTE24 Gene Hs.132642

mRNA Expression by UniProt/SwissProt for ZMPSTE24 Gene

O75844-FACE1_HUMAN
Tissue specificity: Widely expressed. High levels in kidney, prostate, testis and ovary
genes like me logo Genes that share expressions with ZMPSTE24: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia ZMPSTE24 35
  • 99.86 (n)
  • 99.79 (a)
ZMPSTE24 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZMPSTE24 35
  • 94.16 (n)
  • 96.84 (a)
ZMPSTE24 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZMPSTE24 35
  • 94.07 (n)
  • 96.4 (a)
ZMPSTE24 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zmpste24 35
  • 90.08 (n)
  • 93.67 (a)
Zmpste24 16
Zmpste24 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZMPSTE24 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZMPSTE24 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zmpste24 35
  • 90.15 (n)
  • 93.88 (a)
chicken
(Gallus gallus)
Aves ZMPSTE24 35
  • 80.71 (n)
  • 89.96 (a)
ZMPSTE24 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia aca-mir-5401 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6615 35
zmpste24 35
  • 75.84 (n)
  • 85.59 (a)
zebrafish
(Danio rerio)
Actinopterygii wufi45a02 35
zmpste24 35
  • 69.74 (n)
  • 80.26 (a)
zmpste24 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004470 35
  • 55.86 (n)
  • 48.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7573 36
  • 21 (a)
OneToMany
ste24a 35
  • 54.55 (n)
  • 51.78 (a)
ste24a 36
  • 49 (a)
OneToMany
ste24b 36
  • 32 (a)
OneToMany
ste24c 36
  • 30 (a)
OneToMany
CG9001 37
  • 30 (a)
CG9002 37
  • 30 (a)
CG30461 37
  • 30 (a)
CG9000 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea fce-1 35
  • 51.71 (n)
  • 43.72 (a)
fce-1 36
  • 42 (a)
OneToOne
C04F12.10 37
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE24 35
  • 48.94 (n)
  • 40.24 (a)
STE24 36
  • 38 (a)
OneToOne
STE24 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10846g 35
  • 47.01 (n)
  • 41.96 (a)
soybean
(Glycine max)
eudicotyledons Gma.17905 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ATSTE24 35
  • 53.68 (n)
  • 50.49 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.11857 35
rice
(Oryza sativa)
Liliopsida Os.13475 35
Os02g0680400 35
  • 54.15 (n)
  • 50 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03637 35
  • 50.16 (n)
  • 44.17 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3H1.05 35
  • 50.24 (n)
  • 42.2 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.646 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for ZMPSTE24:
  • 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

ENSEMBL:
Gene Tree for ZMPSTE24 (if available)
TreeFam:
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 MAF
rs720793 -- 40,266,696(-) GCTCC(A/G)TAATT intron-variant
rs763423 -- 40,266,697(-) GGCTC(C/T)ATAAT intron-variant
rs926830 untested 40,257,123(+) GTTGA(A/G)AAATT intron-variant
rs1015354 -- 40,288,368(+) tcagt(C/G)taata intron-variant
rs1046247 -- 40,258,317(+) CGGCC(A/G)AGAAG missense, reference

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

Variant ID Type Subtype PubMed ID
nsv829660 CNV Gain+Loss 17160897
esv2658928 CNV Deletion 23128226

Relevant External Links for ZMPSTE24 Gene

HapMap Linkage Disequilibrium report
ZMPSTE24
Human Gene Mutation Database (HGMD)
ZMPSTE24
Locus Specific Mutation Databases (LSDB)
ZMPSTE24

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

Disorders for ZMPSTE24 Gene

(2) OMIM Diseases for ZMPSTE24 Gene (606480)

UniProtKB/Swiss-Prot

FACE1_HUMAN
  • 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.
  • 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.

(2) University of Copenhagen DISEASES for ZMPSTE24 Gene

(10) Novoseek inferred disease relationships for ZMPSTE24 Gene

Disease -log(P) Hits PubMed IDs
mandibuloacral dysplasia 93.1 6
progeria 90.7 6
acroosteolysis 88.1 1
lipodystrophy, congenital generalized 75.3 1
lipodystrophy 73 4

Relevant External Links for ZMPSTE24

Genetic Association Database (GAD)
ZMPSTE24
Human Genome Epidemiology (HuGE) Navigator
ZMPSTE24
genes like me logo Genes that share disorders with ZMPSTE24: view

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 23
  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 23
  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 23 48
  4. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (PMID: 17152860) Agarwal A.K. … Garg A. (J. Invest. Med. 2006) 3 4 23
  5. 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 23

Products for ZMPSTE24 Gene

Sources for ZMPSTE24 Gene

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