Human Gene ZMPSTE24 (ENST00000372759.4) from GENCODE V44
  Description: Homo sapiens zinc metallopeptidase STE24 (ZMPSTE24), mRNA. (from RefSeq NM_005857)
RefSeq Summary (NM_005857): 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].
Gencode Transcript: ENST00000372759.4
Gencode Gene: ENSG00000084073.10
Transcript (Including UTRs)
   Position: hg38 chr1:40,258,236-40,294,180 Size: 35,945 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr1:40,258,272-40,292,669 Size: 34,398 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:40,258,236-40,294,180)mRNA (may differ from genome)Protein (475 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FACE1_HUMAN
DESCRIPTION: RecName: Full=CAAX prenyl protease 1 homolog; EC=3.4.24.84; AltName: Full=Farnesylated proteins-converting enzyme 1; Short=FACE-1; AltName: Full=Prenyl protein-specific endoprotease 1; AltName: Full=Zinc metalloproteinase Ste24 homolog;
FUNCTION: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
CATALYTIC ACTIVITY: The peptide bond hydrolyzed can be designated -C-|-A-A-X in which C is an S-isoprenylated cysteine residue, A is usually aliphatic and X is the C-terminal residue of the substrate protein, and may be any of several amino acids.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Widely expressed. High levels in kidney, prostate, testis and ovary.
DISEASE: Defects in ZMPSTE24 are the cause of mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]. Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and types A or B patterns of lipodystrophy. Type B lipodystrophy observed in MADB, is characterized by generalized fat loss.
DISEASE: Defects in ZMPSTE24 are a cause of lethal tight skin contracture syndrome (LTSCS) [MIM:275210]; also called restrictive dermopathy (RD). Lethal tight skin contracture syndrome is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.
SIMILARITY: Belongs to the peptidase M48A family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZMPSTE24";

-  Primer design for this transcript
 

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZMPSTE24
Diseases sorted by gene-association score: mandibuloacral dysplasia with type b lipodystrophy* (1580), restrictive dermopathy, lethal* (1266), hutchinson-gilford progeria* (283), mandibuloacral dysplasia* (114), lethal restrictive dermopathy, zmpste24-related* (100), lipodystrophy (24), hajdu-cheney syndrome (15), congenital generalized lipodystrophy (10), adiposis dolorosa (9), reynolds syndrome (7), ovarian benign neoplasm (7), hallermann-streiff syndrome (6), ovarian cystadenoma (6), arthropathy (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.63 RPKM in Artery - Aorta
Total median expression: 629.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.2036-0.311 Picture PostScript Text
3' UTR -334.601511-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001915 - Peptidase_M48

Pfam Domains:
PF01435 - Peptidase family M48

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4AW6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75844
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsembl SGD
Protein SequenceProtein SequenceProtein SequenceProtein Sequence Protein Sequence
AlignmentAlignmentAlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008235 metalloexopeptidase activity
GO:0008237 metallopeptidase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0006998 nuclear envelope organization
GO:0030327 prenylated protein catabolic process
GO:0071586 CAAX-box protein processing

Cellular Component:
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF383904 - JP 2014500723-A/191407: Polycomb-Associated Non-Coding RNAs.
MA619481 - JP 2018138019-A/191407: Polycomb-Associated Non-Coding RNAs.
AB016068 - Homo sapiens mRNA for Ste24p, complete cds.
BC037283 - Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae), mRNA (cDNA clone MGC:33086 IMAGE:5269064), complete cds.
AF064867 - Homo sapiens CAAX prenyl protease (STE24) mRNA, complete cds.
AK075007 - Homo sapiens cDNA FLJ90526 fis, clone NT2RP4001009, highly similar to CAAX prenyl protease 1 homolog (EC 3.4.24.84).
AK074784 - Homo sapiens cDNA FLJ90303 fis, clone NT2RP2000649, highly similar to CAAX prenyl protease 1 homolog (EC 3.4.24.84).
LF356454 - JP 2014500723-A/163957: Polycomb-Associated Non-Coding RNAs.
MA592031 - JP 2018138019-A/163957: Polycomb-Associated Non-Coding RNAs.
Y13834 - Homo sapiens mRNA for farnesylated-proteins converting enzyme 1.
EU176257 - Synthetic construct Homo sapiens clone IMAGE:100006371; FLH170008.01X; RZPDo839G09250D zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24) gene, encodes complete protein.
EU176564 - Synthetic construct Homo sapiens clone IMAGE:100011381; FLH170004.01L; RZPDo839D11253D zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24) gene, encodes complete protein.
KJ904647 - Synthetic construct Homo sapiens clone ccsbBroadEn_14041 ZMPSTE24 gene, encodes complete protein.
LF356453 - JP 2014500723-A/163956: Polycomb-Associated Non-Coding RNAs.
MA592030 - JP 2018138019-A/163956: Polycomb-Associated Non-Coding RNAs.
LF356452 - JP 2014500723-A/163955: Polycomb-Associated Non-Coding RNAs.
MA592029 - JP 2018138019-A/163955: Polycomb-Associated Non-Coding RNAs.
LF356450 - JP 2014500723-A/163953: Polycomb-Associated Non-Coding RNAs.
MA592027 - JP 2018138019-A/163953: Polycomb-Associated Non-Coding RNAs.
AK027874 - Homo sapiens cDNA FLJ14968 fis, clone THYRO1000288, highly similar to CAAX prenyl protease 1 homolog (EC 3.4.24.84).
LF356448 - JP 2014500723-A/163951: Polycomb-Associated Non-Coding RNAs.
MA592025 - JP 2018138019-A/163951: Polycomb-Associated Non-Coding RNAs.
LF356447 - JP 2014500723-A/163950: Polycomb-Associated Non-Coding RNAs.
MA592024 - JP 2018138019-A/163950: Polycomb-Associated Non-Coding RNAs.
LF356446 - JP 2014500723-A/163949: Polycomb-Associated Non-Coding RNAs.
MA592023 - JP 2018138019-A/163949: Polycomb-Associated Non-Coding RNAs.
LF356445 - JP 2014500723-A/163948: Polycomb-Associated Non-Coding RNAs.
MA592022 - JP 2018138019-A/163948: Polycomb-Associated Non-Coding RNAs.
JD186964 - Sequence 167988 from Patent EP1572962.
JD333968 - Sequence 314992 from Patent EP1572962.
JD549735 - Sequence 530759 from Patent EP1572962.
JD562665 - Sequence 543689 from Patent EP1572962.
LF356443 - JP 2014500723-A/163946: Polycomb-Associated Non-Coding RNAs.
MA592020 - JP 2018138019-A/163946: Polycomb-Associated Non-Coding RNAs.
JD298688 - Sequence 279712 from Patent EP1572962.
JD291222 - Sequence 272246 from Patent EP1572962.
JD266413 - Sequence 247437 from Patent EP1572962.
LF356442 - JP 2014500723-A/163945: Polycomb-Associated Non-Coding RNAs.
MA592019 - JP 2018138019-A/163945: Polycomb-Associated Non-Coding RNAs.
JD250029 - Sequence 231053 from Patent EP1572962.
JD501558 - Sequence 482582 from Patent EP1572962.
JD551542 - Sequence 532566 from Patent EP1572962.
JD237121 - Sequence 218145 from Patent EP1572962.
LF356441 - JP 2014500723-A/163944: Polycomb-Associated Non-Coding RNAs.
MA592018 - JP 2018138019-A/163944: Polycomb-Associated Non-Coding RNAs.
JD465170 - Sequence 446194 from Patent EP1572962.
JD206690 - Sequence 187714 from Patent EP1572962.
LF356440 - JP 2014500723-A/163943: Polycomb-Associated Non-Coding RNAs.
MA592017 - JP 2018138019-A/163943: Polycomb-Associated Non-Coding RNAs.
JD521852 - Sequence 502876 from Patent EP1572962.
JD465398 - Sequence 446422 from Patent EP1572962.
JD419189 - Sequence 400213 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQI7, D3DPU7, ENST00000372759.1, ENST00000372759.2, ENST00000372759.3, FACE1, FACE1_HUMAN, NM_005857, O75844, Q8NDZ8, Q9UBQ2, STE24, uc001cfg.1, uc001cfg.2, uc001cfg.3, uc001cfg.4, uc001cfg.5, uc001cfg.6
UCSC ID: ENST00000372759.4
RefSeq Accession: NM_005857
Protein: O75844 (aka FACE1_HUMAN)
CCDS: CCDS449.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.