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ZMPSTE24 Gene

protein-coding   GIFtS: 66
GCID: GC01P040723

Zinc Metallopeptidase STE24

(Previous names: zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zinc Metallopeptidase STE241 2     Zinc Metallopeptidase (STE24 Homolog, Yeast)1
FACE12 3 5     Zinc Metallopeptidase STE24 Homolog (S. Cerevisiae)1
STE242 3 5     Zinc Metalloproteinase (STE24 Homolog, Yeast)1
CAAX Prenyl Protease 1 Homolog1 2     HGPS2
Farnesylated Proteins-Converting Enzyme 12 3     PRO12
Prenyl Protein-Specific Endoprotease 12 3     Ste24p2
Zinc Metalloproteinase Ste24 Homolog2 3     Zinc Metallopeptidase STE24 Homolog2
FACE-12 3     EC 3.4.24.843
Hutchinson-Gilford Progeria Syndrome1     MADB5

External Ids:    HGNC: 128771   Entrez Gene: 102692   Ensembl: ENSG000000840737   OMIM: 6064805   UniProtKB: O758443   

Export aliases for ZMPSTE24 gene to outside databases

Previous GC identifers: GC01P040758 GC01P039727 GC01P040187 GC01P040137 GC01P040392 GC01P040496 GC01P038842


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lethal restrictive dermopathy, zmpste24-related, and mandibuloacral dysplasia with type b lipodystrophy. GO annotations related to this gene include metalloexopeptidase activity and metalloendopeptidase activity.

UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844
Function: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZMPSTE24 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B2   oct-B3   CUTL1   POU2F2   POU2F2C   Nkx6-1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZMPSTE24 promoter sequence
   Search Chromatin IP Primers for ZMPSTE24

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZMPSTE24


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

ZMPSTE24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZMPSTE24 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P040723:  view genomic region     (about GC identifiers)

Start:
40,723,733 bp from pter      End:
40,759,856 bp from pter
Size:
36,124 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844 (See protein sequence)
Recommended Name: CAAX prenyl protease 1 homolog  
Size: 475 amino acids; 54813 Da
Cofactor: Binds 1 zinc ion per subunit
2 PDB 3D structures from and Proteopedia for ZMPSTE24:
2YPT (3D)        4AW6 (3D)    
Secondary accessions: B3KQI7 D3DPU7 Q8NDZ8 Q9UBQ2

Explore the universe of human proteins at neXtProt for ZMPSTE24: NX_O75844

Explore proteomics data for ZMPSTE24 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys46, Lys66, Lys251, Lys314, Lys437
  • Modification sites at PhosphoSitePlus

  • See ZMPSTE24 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005848.2  
    ENSEMBL proteins: 
     ENSP00000361845  

    ZMPSTE24 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001915 Peptidase_M48
     IPR027057 CAXX_Prtase_1

    Graphical View of Domain Structure for InterPro Entry O75844

    ProtoNet protein and cluster: O75844

    UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844
    Domain: The metalloprotease domain is constituted by the two C-terminal nuclear regions
    Similarity: Belongs to the peptidase M48A family


    ZMPSTE24 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FACE1_HUMAN, O75844
    Function: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C
    Catalytic activity: 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

         Genatlas biochemistry entry for ZMPSTE24:
    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

         Enzyme Number (IUBMB): EC 3.4.24.841

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008235metalloexopeptidase activity TAS10373325
    GO:0046872metal ion binding IEA--
         
    ZMPSTE24 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZMPSTE24:
     Increased homologous recombina 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Zmpste24) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  renal/urinary system 

    ZMPSTE24 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Zmpste24tm1Sgy for ZMPSTE24

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZMPSTE24
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    miRNA
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    miRTarBase miRNAs that target ZMPSTE24:
    hsa-mir-98-5p (MIRT004942), hsa-mir-124-3p (MIRT022576)

    Block miRNA regulation of human, mouse, rat ZMPSTE24 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZMPSTE24 (see all 16):
    hsa-miR-34b* hsa-miR-520d-5p hsa-miR-200a hsa-miR-141 hsa-miR-124 hsa-miR-3658 hsa-miR-506 hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidZMPSTE24 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ZMPSTE24

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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZMPSTE24


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FACE1_HUMAN, O75844: Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus inner membrane;
    Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane3
    extracellular2
    nucleus2
    cytosol1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005637nuclear inner membrane IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    ZMPSTE24 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ZMPSTE24 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    Terpenoid backbone biosynthesis0.34
    2Adipogenesis
    Adipogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ZMPSTE24
        Adipogenesis


    1 Kegg Pathway  (Kegg details for ZMPSTE24):
        Terpenoid backbone biosynthesis


    ZMPSTE24 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZMPSTE24
    Interactions:

        Search GeneGlobe Interaction Network for ZMPSTE24

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ZMPSTE24 (O758443 ENSP000003618454) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS10373325
    GO:0006998nuclear envelope organization IEA--
    GO:0030327prenylated protein catabolic process IEA--
    GO:0071586CAAX-box protein processing ----

    ZMPSTE24 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZMPSTE24 (FACE1)

    9 Novoseek inferred chemical compound relationships for ZMPSTE24 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 78.6 92 8519803 (3), 9015299 (2), 19453269 (2), 7591296 (2) (see all 67)
    batimastat 74.7 3 10849764 (1), 11777952 (1), 10423252 (1)
    thermolysin 58.6 1 8519803 (1)
    hydroxamate 58.1 2 8740360 (1), 10423252 (1)
    tripeptide 36.9 1 11231048 (1)
    1,10-phenanthroline 35.4 1 15607631 (1)
    procollagen 29.1 1 15817489 (1)
    serine 27 1 18785768 (1)
    cholesterol 0 1 15331667 (1)



    ZMPSTE24 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ZMPSTE24 gene: 
    NM_005857.4  

    Unigene Cluster for ZMPSTE24:

    Zinc metallopeptidase STE24
    Hs.132642  [show with all ESTs]
    Unigene Representative Sequence: NM_005857
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372759(uc001cfg.3) ENST00000479131 ENST00000472583 ENST00000474142


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ZMPSTE24 (see all 16):
    hsa-miR-34b* hsa-miR-520d-5p hsa-miR-200a hsa-miR-141 hsa-miR-124 hsa-miR-3658 hsa-miR-506 hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidZMPSTE24 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat ZMPSTE24
      QuantiFast Probe-based Assays in human, mouse, rat ZMPSTE24

    Additional mRNA sequence: 

    AB016068.1 AF064867.1 AK027874.1 AK074784.1 AK075007.1 BC037283.1 Y13834.1 

    5 DOTS entries:

    DT.417785  DT.100786033  DT.121377024  DT.121377035  DT.99985361 

    Selected AceView cDNA sequences (see all 203):

    CB131873 AK075007 AI478700 AA788917 BG260166 AI003768 AI342649 AW467710 
    AK074784 BG953307 AW192807 AI753077 AA411393 AA359058 BQ433036 Z45538 
    AI918542 W32176 AI887384 C03705 BU678364 CB134074 CD657740 BX483123 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ZMPSTE24    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                    -           -                                         -                     
    SP2:                    -           -                       -                                       
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                -                                                               


    ECgene alternative splicing isoforms for ZMPSTE24

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZMPSTE24 expression in normal human tissues (normalized intensities)      ZMPSTE24 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTGATAAC
    ZMPSTE24 Expression
    About this image


    ZMPSTE24 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ZMPSTE24 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZMPSTE24 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132642

    UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844
    Tissue specificity: Widely expressed. High levels in kidney, prostate, testis and ovary

        Custom PCR Arrays for ZMPSTE24
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZMPSTE24

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ZMPSTE24 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zmpste241 , 5 zinc metallopeptidase, STE24 homolog (S. cerevisiae)5
    zinc metallopeptidase, STE241
    90.08(n)1
    93.67(a)1
      4 (56.80 cM)5
    2307091  NM_172700.21  NP_766288.11 
     1210592375 
    chicken
    (Gallus gallus)
    Aves ZMPSTE241 zinc metallopeptidase STE24 80.71(n)
    89.96(a)
      419572  XM_417720.3  XP_417720.1 
    lizard
    (Anolis carolinensis)
    Reptilia aca-mir-54016
    aca-mir-5401
    85(a)
    1 ↔ 1
    GL343276.1(1792176-1805530)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA985678.12   -- 78.72(n)    CA985678.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi45a022 wufi45a02 76.44(n)   334380  BC046884.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90003
    ste24a1
    prenyl-dependent CAAX protease3
    prenyl protease type I1
    49(a)
    (best of 4)3
    54.55(n)1
    51.78(a)1
      53E43
    369081  NM_137331.31  NP_611175.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C04F12.103
    fce-11
    Zinc-binding metalloprotease domain3
    fce-11
    41(a)3
    51.71(n)1
    43.72(a)1
      I(9719261-9720772)3
    1728201  NM_060181.41  NP_492582.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STE24(YJR117W)4
    STE241
    Highly conserved zinc metalloprotease that functions more4
    STE241
    48.94(n)1
    40.24(a)1
      10(642007-643368)4
    8535811, 4  NP_012651.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATSTE241 ATSTE24 53.68(n)
    50.49(a)
      828209  NM_116362.2  NP_567212.1 
    rice
    (Oryza sativa)
    Liliopsida Os.134752 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.47(n)    AK060498.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZMPSTE24 (see all 855)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0645014
    Mandibuloacral dysplasia with type B lipodystrophy (MADB)4--see VAR_0645012 P L mis40--------
    VAR_0645024
    Mandibuloacral dysplasia with type B lipodystrophy (MADB)4--see VAR_0645022 N S mis40--------
    VAR_0193084
    Mandibuloacral dysplasia with type B lipodystrophy (MADB)4--see VAR_0193082 W R mis40--------
    rs1219080941,2
    Cpathogenic140801912(+) AGCGGC/TAGGTG 2 Q * stg10--------
    rs2676071811,2
    Cpathogenic140815494(+) AAATTG/TAAGTA 2 E * stg10--------
    rs1219080951,2
    Cpathogenic140815522(+) CTTTCC/G/TTTTGA 2 P L mis10--------
    rs1219080931,2
    Cpathogenic140829570(+) GGCACC/TGGAAG 2 R W mis10--------
    rs1378548891,2
    Cpathogenic140834461(+) TTTTT-/TATTTG 2 L FI fra10--------
    rs75487581,2
    C,Funtested140800523(+) GAAAGC/GAAAGA 1 -- int18Minor allele frequency- G:0.11NA WA CSA EA 367
    rs9268301,2
    C,F,O,A,Huntested140800643(+) GTTGAG/AAAATT 1 -- int127Minor allele frequency- A:0.23NA EA MN NS WA 3376

    HapMap Linkage Disequilibrium report for ZMPSTE24 (40723733 - 40759856 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ZMPSTE24:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658928CNV Deletion23128226
    nsv829660CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): ZMPSTE24
    Locus Specific Mutation Databases (LSDB): ZMPSTE24

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZMPSTE24
    DNA2.0 Custom Variant and Variant Library Synthesis for ZMPSTE24

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606480   
    OMIM disorders: 608612  275210  
    UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ZMPSTE24 (see all 27):    About MalaCards
    lethal restrictive dermopathy, zmpste24-related    mandibuloacral dysplasia with type b lipodystrophy    tight skin contracture syndrome, lethal    mandibuloacral dysplasia
    progeria    tendinitis    reynolds syndrome    botulism
    lipodystrophy    arthropathy    focal segmental glomerulosclerosis    calcinosis
    pulmonary tuberculosis    amyloidosis    tuberculosis    scleroderma
    alzheimer's disease    asthma    adenocarcinoma    hiv-1

    2 diseases from the University of Copenhagen DISEASES database for ZMPSTE24:
    Progeria     Lipodystrophy

    ZMPSTE24 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10 Novoseek inferred disease relationships for ZMPSTE24 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mandibuloacral dysplasia 93.1 10 16364671 (1), 16278265 (1), 17152860 (1), 12913070 (1) (see all 6)
    progeria 90.7 6 15479179 (1), 16207929 (1), 20458013 (1), 16671095 (1) (see all 6)
    acroosteolysis 88.1 1 16278265 (1)
    lipodystrophy, congenital generalized 75.3 2 12913070 (1)
    lipodystrophy 73 9 16409151 (1), 17320032 (1), 18230615 (1), 15998779 (1)
    alzheimers disease 10.3 1 16233955 (1)
    growth retardation 9.02 1 11923874 (1)
    arthropathy 8.23 1 16278265 (1)
    necrosis 0 1 10849764 (1)
    tumors 0 4 7591296 (1), 12954328 (1), 19329328 (1), 18081311 (1)

    Genetic Association Database (GAD): ZMPSTE24
    Human Genome Epidemiology (HuGE) Navigator: ZMPSTE24 (6 documents)

    Export disorders for ZMPSTE24 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ZMPSTE24 gene, integrated from 10 sources (see all 152):
    (articles sorted by number of sources associating them with ZMPSTE24)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing. (PubMed id 9700155)1, 2, 3, 9 Tam A....Michaelis S. (J. Cell Biol. 1998)
    2. Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. (PubMed id 10373325)1, 2, 3, 9 Freije J.M.P....Lopez-Otin C. (Genomics 1999)
    3. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (PubMed id 12913070)1, 2, 9 Agarwal A.K.... Garg A. (Hum. Mol. Genet. 2003)
    4. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (PubMed id 17152860)1, 2, 9 Agarwal A.K.... Garg A. (J. Invest. Med. 2006)
    5. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. (PubMed id 15317753)1, 2, 9 Navarro C.L.... Levy N. (Hum. Mol. Genet. 2004)
    6. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (PubMed id 18435794)1, 2, 9 Miyoshi Y.... Ozono K. (Clin. Genet. 2008)
    7. 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. (PubMed id 16671095)1, 3, 9 Denecke J....Marquardt T. (Hum. Mutat. 2006)
    8. Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study. (PubMed id 19841875)1, 4, 9 Fontaine-Bisson B....Morange P.E. (J. Mol. Med. 2010)
    9. The structural basis of ZMPSTE24-dependent laminopathies. (PubMed id 23539603)1, 2 Quigley A.... Carpenter E.P. (Science 2013)
    10. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (PubMed id 20814950)1, 2 Ahmad Z.... Garg A. (Am. J. Med. Genet. A 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10269 HGNC: 12877 AceView: ZMPSTE24 Ensembl:ENSG00000084073 euGenes: HUgn10269
    ECgene: ZMPSTE24 Kegg: 10269 H-InvDB: ZMPSTE24

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ZMPSTE24 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ZMPSTE24 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ZMPSTE24[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZMPSTE24 gene:
    Search GeneIP for patents involving ZMPSTE24

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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