Zmpste24
Gene Detail

Symbol Name ID

Zmpste24 zinc metallopeptidase, STE24 MGI:1890508

Synonyms

A530043O15Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 4

56.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr4:121059237-121098241 bp, - strand From VEGA annotation of GRCm38   39005 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:4277  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Zmpste24

Human homologs

Human Homolog		ZMPSTE24, zinc metallopeptidase STE24
NCBI Gene ID		10269
neXtProt AC		NX_O75844
Human Synonyms		FACE1, FACE-1, HGPS, PRO1, STE24, Ste24p
Human Chr (Location)		1p34; chr1:40723722-40759856 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ZMPSTE24

Alleles and phenotypes

All alleles(5) : Targeted(4) Gene trapped(1)
 

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.

 
Human Diseases Modeled Using Mouse Zmpste24 (4)    Alleles Annotated to Human Diseases(2)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	CAAX-box protein processing, metabolic process, ...
Component	endoplasmic reticulum, Golgi apparatus, ...
Function	hydrolase activity, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (4)    Tissues (4)   
Theiler Stages: 3, 28

Assay Type	Results
RT-PCR	4

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(8) cDNA(7) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000008909 (Evidence)
Ensembl Gene Model	ENSMUSG00000043207 (Evidence)
Entrez Gene	230709 (Evidence)
DFCI	TC1577999, TC1598551
DoTS	DT.529811, DT.97375507
NIA Mouse Gene Index	U041007, U330686
EC	3.4.24.84
Consensus CDS Project	CCDS18600.1
International Mouse Knockout Project Status	Zmpste24

Sequences

Length	Strain/Species
genomic	OTTMUSG00000008909	VEGA Gene Model | MGI Sequence Detail	39005	C57BL/6J
transcript	OTTMUST00000020234	VEGA | MGI Sequence Detail	3429	Not Applicable
polypeptide	OTTMUSP00000009273	VEGA | MGI Sequence Detail	475	Not Applicable

All sequences(35) RefSeq(2) UniProt(3)

Polymorphisms

SNPs within 2kb(267 from dbSNP Build 137)    SNPs within 2kb including multiple locations(291)

Protein-related information

Resource	ID	Description
InterPro	IPR027057	CAAX prenyl protease 1
InterPro	IPR001915	Peptidase M48
Protein Ontology	PR:000017685	CAAX prenyl protease 1

References

(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:194166 Liu B, et al., Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria. Cell Metab. 2012 Dec 5;16(6):738-50
All references(49)

Other accession IDs

MGI:2443572