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    ZMPSTE24 zinc metallopeptidase STE24 [ Homo sapiens (human) ]

    Gene ID: 10269, updated on 5-Jan-2023

    Summary

    Official Symbol
    ZMPSTE24provided by HGNC
    Official Full Name
    zinc metallopeptidase STE24provided by HGNC
    Primary source
    HGNC:HGNC:12877
    See related
    Ensembl:ENSG00000084073 MIM:606480; AllianceGenome:HGNC:12877
    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; RSDM1; STE24; FACE-1; Ste24p
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 22.0), gall bladder (RPKM 20.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ZMPSTE24 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40258236..40294180)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40127713..40163687)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40723908..40759852)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1237, pseudogene Neighboring gene RLF zinc finger Neighboring gene transmembrane and coiled-coil domains 2 Neighboring gene collagen type IX alpha 2 chain Neighboring gene ribosomal protein L21 pseudogene 20

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of zinc metallopeptidase (STE24 homolog, ZMPSTE24) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol In both human and mouse fibroblasts, HIV-1 protease inhibitors inhibit ZMPSTE24, resulting in a significant accumulation of prelamin A, suggesting the interaction between HIV-1 PR and ZMPSTE24 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metalloexopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CAAX-box protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in CAMKK-AMPK signaling cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion import into sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac conduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac ventricle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth plate cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histone H2B-K5 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of rDNA IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of miRNA maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nuclear envelope organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression via CpG island demethylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prenylated protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA damage response, signal transduction by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of RNA polymerase II regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of TOR signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of histone H4-K16 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitotic cell cycle DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of stress-activated protein kinase signaling cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of termination of RNA polymerase I transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    CAAX prenyl protease 1 homolog
    Names
    farnesylated proteins-converting enzyme 1
    prenyl protein-specific endoprotease 1
    zinc metallopeptidase STE24 homolog
    zinc metalloproteinase Ste24 homolog
    NP_005848.2
    XP_047283538.1
    XP_047283546.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_008695.1 RefSeqGene

      Range
      4990..41124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_212

    mRNA and Protein(s)

    1. NM_005857.5NP_005848.2  CAAX prenyl protease 1 homolog

      See identical proteins and their annotated locations for NP_005848.2

      Status: REVIEWED

      Source sequence(s)
      AA436253, AB016068, AK075007, DA398037
      Consensus CDS
      CCDS449.1
      UniProtKB/Swiss-Prot
      O75844, Q9UBQ2
      Related
      ENSP00000361845.3, ENST00000372759.4
      Conserved Domains (3) summary
      COG0501
      Location:124475
      HtpX; Zn-dependent protease with chaperone function [Posttranslational modification, protein turnover, chaperones]
      pfam01435
      Location:228472
      Peptidase_M48; Peptidase family M48
      pfam16491
      Location:41225
      Peptidase_M48_N; CAAX prenyl protease N-terminal, five membrane helices

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      40258236..40294180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427590.1XP_047283546.1  CAAX prenyl protease 1 homolog isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHG9
      Related
      ENSP00000502683.1, ENST00000675937.1
    2. XM_047427582.1XP_047283538.1  CAAX prenyl protease 1 homolog isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      40127713..40163687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)