Gene/Proteome Database (LMPD)
LMPD ID
LMP003598
Gene ID
Species
Homo sapiens (Human)
Gene Name
zinc metallopeptidase STE24
Gene Symbol
Synonyms
FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p
Alternate Names
CAAX prenyl protease 1 homolog; zinc metallopeptidase STE24 homolog; zinc metalloproteinase Ste24 homolog; prenyl protein-specific endoprotease 1; farnesylated proteins-converting enzyme 1
Chromosome
1
Map Location
1p34
EC Number
3.4.24.84
Summary
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]
Orthologs
Proteins
| CAAX prenyl protease 1 homolog | |
|---|---|
| Refseq ID | NP_005848 |
| Protein GI | 18379366 |
| UniProt ID | O75844 |
| mRNA ID | NM_005857 |
| Length | 475 |
| RefSeq Status | REVIEWED |
| MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH | |
Gene Information
Entrez Gene ID
Gene Name
zinc metallopeptidase STE24
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IEA:UniProtKB-KW | C | endoplasmic reticulum |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0005634 | IEA:UniProtKB-KW | C | nucleus |
| GO:0046872 | IEA:UniProtKB-KW | F | metal ion binding |
| GO:0004222 | IEA:Ensembl | F | metalloendopeptidase activity |
| GO:0008235 | TAS:ProtInc | F | metalloexopeptidase activity |
| GO:0071586 | IEA:InterPro | P | CAAX-box protein processing |
| GO:0006998 | IEA:Ensembl | P | nuclear envelope organization |
| GO:0030327 | IEA:Ensembl | P | prenylated protein catabolic process |
| GO:0006508 | TAS:ProtInc | P | proteolysis |
KEGG Pathway Links
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| 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 | Name=Zn(2+); Xref=ChEBI |
| Disease | Lethal tight skin contracture syndrome (LTSCS) [MIM |
| Disease | Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM |
| Domain | The metalloprotease domain is constituted by the two C- terminal nuclear regions. |
| Function | Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C. |
| Similarity | Belongs to the peptidase M48A family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . Nucleus inner membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Widely expressed. High levels in kidney, prostate, testis and ovary. |
Identical and Related Proteins
Unique RefSeq proteins for LMP003598 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 18379366 | RefSeq | NP_005848 | 475 | CAAX prenyl protease 1 homolog |
Identical Sequences to LMP003598 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:18379366 | DBBJ | BAG52049.1 | 475 | unnamed protein product [Homo sapiens] |
| GI:18379366 | EMBL | CAF85955.1 | 475 | unnamed protein product [Homo sapiens] |
| GI:18379366 | EMBL | CAF86212.1 | 475 | unnamed protein product [Homo sapiens] |
| GI:18379366 | GenBank | EAX07233.1 | 475 | zinc metallopeptidase (STE24 homolog, yeast), isoform CRA_a [Homo sapiens] |
| GI:18379366 | GenBank | EAX07234.1 | 475 | zinc metallopeptidase (STE24 homolog, yeast), isoform CRA_a [Homo sapiens] |
| GI:18379366 | GenBank | AHD74845.1 | 475 | Sequence 14862 from patent US 8586006 |
Related Sequences to LMP003598 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:18379366 | DBBJ | BAA33727.1 | 475 | Ste24p [Homo sapiens] |
| GI:18379366 | GenBank | AAH37283.1 | 475 | Zinc metallopeptidase (STE24 homolog, S. cerevisiae) [Homo sapiens] |
| GI:18379366 | GenBank | ABW03365.1 | 475 | zinc metallopeptidase (STE24 homolog, S. cerevisiae), partial [synthetic construct] |
| GI:18379366 | GenBank | ABW03708.1 | 475 | zinc metallopeptidase (STE24 homolog, S. cerevisiae) [synthetic construct] |
| GI:18379366 | PDB | 4AW6 | 482 | Chain B, Crystal Structure Of The Human Nuclear Membrane Zinc Metalloprotease Zmpste24 (face1) |
| GI:18379366 | PDB | 4AW6 | 482 | Chain D, Crystal Structure Of The Human Nuclear Membrane Zinc Metalloprotease Zmpste24 (face1) |