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ZMPSTE24 zinc metallopeptidase STE24 [ Homo sapiens (human) ]

Gene ID: 10269, updated on 24-Nov-2020

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
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; 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

Genomic context

See ZMPSTE24 in Genome Data Viewer
Location:
1p34.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (40258078..40294180)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40723722..40759856)

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
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metalloexopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
CAAX-box protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CAMKK-AMPK signaling cascade IEA
Inferred from Electronic Annotation
more info
 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
calcium ion import into sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
cardiac ventricle development IEA
Inferred from Electronic Annotation
more info
 
cellular lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
growth plate cartilage development IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
histone H2A phosphorylation IEA
Inferred from Electronic Annotation
more info
 
histone H2B-K5 acetylation IEA
Inferred from Electronic Annotation
more info
 
hypomethylation of CpG island IEA
Inferred from Electronic Annotation
more info
 
inflammatory cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
kidney morphogenesis IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
maintenance of rDNA IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of production of miRNAs involved in gene silencing by miRNA IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope organization IEA
Inferred from Electronic Annotation
more info
 
prenylated protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
regulation of DNA damage response, signal transduction by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
regulation of RNA polymerase II regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
regulation of TOR signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
regulation of cellular senescence IEA
Inferred from Electronic Annotation
more info
 
regulation of defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of histone H4-K16 acetylation IEA
Inferred from Electronic Annotation
more info
 
regulation of hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle DNA replication IEA
Inferred from Electronic Annotation
more info
 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
regulation of stress-activated protein kinase signaling cascade IEA
Inferred from Electronic Annotation
more info
 
regulation of termination of RNA polymerase I transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of ventricular cardiac muscle cell membrane repolarization IEA
Inferred from Electronic Annotation
more info
 
response to DNA damage checkpoint signaling IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
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

NCBI Reference Sequences (RefSeq)

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
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    40258078..40294180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001736906.2 RNA Sequence

    Related
    ENST00000675937.1
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