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
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";
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.
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.