• Gene id: 10269

Gene Summary

• Gene Symbol: ZMPSTE24   Gene   UCSC   Ensembl
• Aliases: FACE-1, FACE1, HGPS, PRO1, STE24, Ste24p
• Gene name: zinc metallopeptidase STE24
• Alternate names: CAAX prenyl protease 1 homolog, farnesylated proteins-converting enzyme 1, prenyl protein-specific endoprotease 1, zinc metallopeptidase STE24 homolog, zinc metalloproteinase Ste24 homolog,
• Gene location: 1p34.2 (40258077: 40294179)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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. Mutat
• OMIM: 606480

Protein Summary

• Protein general information: O75844  
  • Name: CAAX prenyl protease 1 homolog (EC 3.4.24.84) (Farnesylated proteins converting enzyme 1) (FACE 1) (Prenyl protein specific endoprotease 1) (Zinc metalloproteinase Ste24 homolog)
  • Length: 475  
  • Mass: 54813
  • Tissue specificity: Widely expressed. High levels in kidney, prostate, testis and ovary.
• Sequence:

  MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKS
  TFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIE
  EKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDK
  FTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGM
  EPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAA
  FGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDW
  LFSMWHYSHPPLLERLQALKTMKQH

• Structural information:
  • Interpro: IPR027057  IPR001915  IPR032456  
  • CDD: cd07343
  • PDB: 2YPT 4AW6 5SYT 6BH8
  • PDBsum: 2YPT 4AW6 5SYT 6BH8
  • DIP: 39641
  • STRING: ENSP00000361845
• Other Databases: GeneCards:  ZMPSTE24  Malacards:  ZMPSTE24

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0071586	CAAX-box protein processing	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0071586	CAAX-box protein processing	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008235	metalloexopeptidase activity	TAS	molecular function
GO:0006508	proteolysis	TAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0050688	regulation of defense response to virus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000730	regulation of termination of RNA polymerase I transcription	IEA	biological process
GO:2000618	regulation of histone H4-K16 acetylation	IEA	biological process
GO:1990164	histone H2A phosphorylation	IEA	biological process
GO:1990036	calcium ion import into sarcoplasmic reticulum	IEA	biological process
GO:1903799	negative regulation of production of miRNAs involved in gene silencing by miRNA	IEA	biological process
GO:1903463	regulation of mitotic cell cycle DNA replication	IEA	biological process
GO:1903025	regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IEA	biological process
GO:0072423	response to DNA damage checkpoint signaling	IEA	biological process
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0070302	regulation of stress-activated protein kinase signaling cascade	IEA	biological process
GO:0061762	CAMKK-AMPK signaling cascade	IEA	biological process
GO:0061337	cardiac conduction	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048145	regulation of fibroblast proliferation	IEA	biological process
GO:0043969	histone H2B acetylation	IEA	biological process
GO:0043516	regulation of DNA damage response, signal transduction by p53 class mediator	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0032350	regulation of hormone metabolic process	IEA	biological process
GO:0030327	prenylated protein catabolic process	IEA	biological process
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010506	regulation of autophagy	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0006998	nuclear envelope organization	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003417	growth plate cartilage development	IEA	biological process
GO:0003231	cardiac ventricle development	IEA	biological process
GO:0003229	ventricular cardiac muscle tissue development	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:2000772	regulation of cellular senescence	IEA	biological process
GO:1903522	regulation of blood circulation	IEA	biological process
GO:0090239	regulation of histone H4 acetylation	IEA	biological process
GO:0060993	kidney morphogenesis	IEA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0050688	regulation of defense response to virus	IEA	biological process
GO:0048739	cardiac muscle fiber development	IEA	biological process
GO:0044255	cellular lipid metabolic process	IEA	biological process
GO:0044030	regulation of DNA methylation	IEA	biological process
GO:0044029	hypomethylation of CpG island	IEA	biological process
GO:0043979	histone H2B-K5 acetylation	IEA	biological process
GO:0043007	maintenance of rDNA	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0032006	regulation of TOR signaling	IEA	biological process
GO:0030500	regulation of bone mineralization	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0007346	regulation of mitotic cell cycle	IEA	biological process
GO:0006997	nucleus organization	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006925	inflammatory cell apoptotic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005635	nuclear envelope	IEA	cellular component
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00900	Terpenoid backbone biosynthesis

Diseases

Associated diseases	References
Restrictive dermopathy	KEGG:H00663
Mandibuloacral dysplasia	KEGG:H00665
Restrictive dermopathy	KEGG:H00663
Mandibuloacral dysplasia	KEGG:H00665
Lethal restrictive dermopathy	PMID:16297189
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881