About   Help   FAQ
Zmpste24 Gene Detail
Summary
  • Symbol
    Zmpste24
  • Name
    zinc metallopeptidase, STE24
  • Synonyms
    A530043O15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890508
    NCBI Gene: 230709
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:121059237-121098241 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 56.80 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    242 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890508
protein coding gene Chr4:121059237-121098249 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028720
protein coding gene Chr4:122362719-122406347 (-)
A/J MGP_AJ_G0028680
protein coding gene Chr4:117529592-117569137 (-)
AKR/J MGP_AKRJ_G0028633
protein coding gene Chr4:120123408-120175886 (-)
BALB/cJ MGP_BALBcJ_G0028703
protein coding gene Chr4:118145302-118186234 (-)
C3H/HeJ MGP_C3HHeJ_G0028418
protein coding gene Chr4:121652572-121692406 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029144
protein coding gene Chr4:126967761-127011785 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026421
protein coding gene Chr4:111574688-111613885 (-)
CAST/EiJ MGP_CASTEiJ_G0027849
protein coding gene Chr4:119025946-119066698 (-)
CBA/J MGP_CBAJ_G0028385
protein coding gene Chr4:130410732-130463869 (-)
DBA/2J MGP_DBA2J_G0028532
protein coding gene Chr4:118105810-118145846 (-)
FVB/NJ MGP_FVBNJ_G0028498
protein coding gene Chr4:116631960-116671207 (-)
LP/J MGP_LPJ_G0028632
protein coding gene Chr4:122483365-122524742 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028526
protein coding gene Chr4:135216003-135263854 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029181
protein coding gene Chr4:121197301-121238301 (-)
PWK/PhJ MGP_PWKPhJ_G0027572
protein coding gene Chr4:115057725-115098531 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027398
protein coding gene Chr4:117619466-117663805 (-)
WSB/EiJ MGP_WSBEiJ_G0027929
protein coding gene Chr4:121214490-121259526 (-)



Homology
more
  • Human Ortholog
    ZMPSTE24, zinc metallopeptidase STE24
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ZMPSTE24, zinc metallopeptidase STE24
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FACE1, FACE-1, HGPS, PRO1, STE24, Ste24p
  • Links
    NCBI Gene ID: 10269
    neXtProt AC: NX_O75844
    UniProt: O75844

  • Chr Location
    1p34.2; chr1:40258050-40294184 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    4 with Zmpste24 mouse models; 1 with human ZMPSTE24 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    77 phenotypes from 2 alleles in 5 genetic backgrounds
    18 phenotypes from multigenic genotypes
    4 images
    41 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutants are deficient in proteolytic processing of prelamin A and display many abnormalities including retarded growth, bone fragility, hair loss, cardiomyopathy, muscular dystrophy and lipodystrophy. Most die prematurely, but some survive and reproduce.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000043207 Ensembl Gene Model | MGI Sequence Detail 39005 C57BL/6J ±  kb
    transcript ENSMUST00000058754 Ensembl | MGI Sequence Detail 3429 Not Applicable  
    polypeptide ENSMUSP00000053900 Ensembl | MGI Sequence Detail 475 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 8
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2443572
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 21
      Phenotypes 41
    • Earliest
      J:70661 Leung GK, et al., Biochemical studies of Zmpste24-deficient mice. J Biol Chem. 2001 Aug 3;276(31):29051-8
    • Latest
      J:267010 Kim PH, et al., Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome. Sci Transl Med. 2018 Sep 26;10(460)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory