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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
  • 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
  • CAAX Prenyl Protease 1 Homolog 2
  • EC 3.4.24.84 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 mandibuloacral dysplasia with type b lipodystrophy and restrictive dermopathy, lethal. 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

Promoters for ZMPSTE24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZMPSTE24 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZMPSTE24 Gene

Chromosome:
1
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

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

Other Protein References for ZMPSTE24 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

O75844

UniProtKB/Swiss-Prot:

FACE1_HUMAN :
  • The metalloprotease domain is constituted by the two C-terminal nuclear regions.
  • Belongs to the peptidase M48A family.
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

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

CRISPR Products

miRNA for ZMPSTE24 Gene

miRTarBase miRNAs that target ZMPSTE24

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for ZMPSTE24 Gene COMPARTMENTS Subcellular localization image for ZMPSTE24 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 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:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
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:0006998 nuclear envelope organization IEA --
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:

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

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, 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 expression patterns with ZMPSTE24: view

Protein tissue co-expression partners for ZMPSTE24 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia ZMPSTE24 35
  • 99.86 (n)
  • 99.79 (a)
ZMPSTE24 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zmpste24 35
  • 90.15 (n)
  • 93.88 (a)
oppossum
(Monodelphis domestica)
Mammalia ZMPSTE24 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZMPSTE24 36
  • 77 (a)
OneToOne
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
fruit fly
(Drosophila melanogaster)
Insecta CG30461 37
  • 30 (a)
CG9000 37
  • 49 (a)
CG9001 37
  • 30 (a)
CG9002 37
  • 30 (a)
ste24a 35
  • 54.55 (n)
  • 51.78 (a)
CG7573 36
  • 21 (a)
OneToMany
ste24a 36
  • 49 (a)
OneToMany
ste24b 36
  • 32 (a)
OneToMany
ste24c 36
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004470 35
  • 55.86 (n)
  • 48.87 (a)
worm
(Caenorhabditis elegans)
Secernentea C04F12.10 37
  • 41 (a)
fce-1 35
  • 51.71 (n)
  • 43.72 (a)
fce-1 36
  • 42 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10846g 35
  • 47.01 (n)
  • 41.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE24 35
  • 48.94 (n)
  • 40.24 (a)
STE24 36
  • 38 (a)
OneToOne
STE24 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATSTE24 35
  • 53.68 (n)
  • 50.49 (a)
soybean
(Glycine max)
eudicotyledons Gma.17905 35
barley
(Hordeum vulgare)
Liliopsida Hv.11857 35
rice
(Oryza sativa)
Liliopsida Os.13475 35
Os02g0680400 35
  • 54.15 (n)
  • 50 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.646 35
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 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
VAR_019308 Mandibuloacral dysplasia with type B lipodystrophy (MADB)
rs17853725 - 40,268,470(+) CATTG(A/G)CTGGT reference, missense
VAR_064501 Mandibuloacral dysplasia with type B lipodystrophy (MADB)
VAR_064502 Mandibuloacral dysplasia with type B lipodystrophy (MADB)
rs720793 -- 40,266,696(-) GCTCC(A/G)TAATT intron-variant

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

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

HapMap Linkage Disequilibrium report
ZMPSTE24
Human Gene Mutation Database (HGMD)
ZMPSTE24

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
mandibuloacral dysplasia with type b lipodystrophy
  • lipodystrophy, type b, associated with mandibuloacral dysplasia
restrictive dermopathy, lethal
  • rd
restrictive dermopathy
  • hyperkeratosis-contracture syndrome
progeria
  • hgps
mandibuloacral dysplasia
  • mad
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FACE1_HUMAN
  • 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)
ZMPSTE24
Human Genome Epidemiology (HuGE) Navigator
ZMPSTE24
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZMPSTE24
genes like me logo Genes that share disorders with ZMPSTE24: view

No data available for Genatlas for ZMPSTE24 Gene

Publications for ZMPSTE24 Gene

  1. 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 67
  2. 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 23
  3. 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 23
  4. 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
  5. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. (PMID: 20101687) Smigiel R. … De Sandre-Giovannoli A. (Am. J. Med. Genet. A 2010) 3 23

Products for ZMPSTE24 Gene

Sources for ZMPSTE24 Gene

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