Summary for peptidase M48.003: farnesylated-protein converting enzyme 1

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates Inhibitors

 

Names
MEROPS Namefarnesylated-protein converting enzyme 1
Other namesCaaX prenyl protease, Face-1 protein, farnesylated-protein converting enzyme 1, Hs Ste24 protein (Homo sapiens), Ste24 endopeptidase, ZMPSTE24 g.p. (Homo sapiens)
Domain architecture
MEROPS Classification
Classification Clan MA >> Subclan MA(E) >> Family M48 >> Subfamily A >> M48.003
Holotypefarnesylated-protein converting enzyme 1 (Homo sapiens), Uniprot accession O75844 (peptidase unit: 164-475), MERNUM MER0002646
History Identifier created: MEROPS 3.4 (5 November 1999)
Activity
Catalytic typeMetallo
NC-IUBMBSubclass 3.4 (Peptidases) >> Sub-subclass 3.4.24 (Metalloendopeptidases) >> Peptidase 3.4.24.84
EnzymologyBRENDA database
Proteolytic eventsCutDB database (1 cleavage)
Activity statushuman: active (Schmidt et al. (2000))
mouse: active (Leung et al., 2001)
PhysiologyFarnesylated-protein converting enzyme 1 is responsible for cleavage of prelamin A to lamin A in human cells (Gruber et al., 2005).
KnockoutA mouse deficient in this gene product shows multiple spontaneous bone fractures (Bergo et al., 2002) and accellerated aging (Varela et al.2005). Human mutations in the enzyme may be associated with mandibuloacral dysplasia (Agarwal et al., 2003) and also appear to be a cause of the autosomal recessive syndrome restrictive dermopathy (Navarro et al., 2005). Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutant prelamin A that cannot be processed to lamin A.
Pathways KEGGTerpenoid backbone biosynthesis
Other databases TREEFAMhttp://www.treefam.org/family/TF105972
PANTHERhttp://www.pantherdb.org/panther/familyList.do?searchType=basic&fieldName=all&listType=6&fieldValue=PTHR10120:SF24
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
ZMPSTE24 1p34 ENSG00000084073 10269 ZMPSTE24 606480
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
Zmpste24 4:D2.2 ENSMUSG00000043207 230709 MGI:1890508