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Literature summary for 3.4.24.84 extracted from

  • Barrowman, J.; Hamblet, C.; Kane, M.; Michaelis, S.
    Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24 (2012), PLoS ONE, 7, e32120.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.24.84

Application

Application Comment Organism
medicine mutations in the ZMPSTE24 gene lead to incomplete maturation of prelamin A and as a consequence to the premature aging disease Hutchinson-Gilford Progeria Syndrome. In general, the residual activity of ZMPSTE24 patient alleles correlates with disease severity. Complete loss-of-function alleles are associated with restrictive dermopathy, whereas retention of partial, measureable activity results in mandibuloacral dysplasia type B or severe progeria Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
-
 Homo sapiens

Protein Variants

Protein Variants Comment Organism
H335A 0.4% of wild-type activity Homo sapiens
L362F 1.3% of wild-type activity Homo sapiens
L438F 1.0% of wild-type activity Homo sapiens
L94P 2.8% of wild-type activity Homo sapiens
N265S 4.3% of wild-type activity Homo sapiens
P248L 4.6% of wild-type activity Homo sapiens
T159/L209del no residual activity Homo sapiens
W340R 13.7% of wild-type activity Homo sapiens
W450X 0.3% of wild-type activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O75844
-
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
173
-
 wild-type, pH 7.5, 30°C Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
prelamin A + H2O
-
 Homo sapiens lamin A + ? enzyme cleaves the prenylated and carboxylmethylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin. Mutations in the lamin A gene that eliminate the ZMPSTE24 cleavage site lead to the premature aging disease Hutchinson-Gilford Progeria Syndrome ?
prelamin A + H2O the C-terminal 41 amino acids of prelamin A contain sufficient context to allow cleavage of the tail by ZMPSTE24. Mutations in amino acids immediately surrounding the cleavage site (between Y646 and L647) interfere with efficient cleavage of the prelamin A tail, e,g R644C, L648A and N650A, in addition to L647R. 9 of the 15 residues within the cleaved tail that lie immediately upstream of the CAAX motif are not critical for ZMPSTE24-mediated cleavage, duplication of the same 9 amino acids impairs the ability of ZMPSTE24 to cleave prelamin A Homo sapiens lamin A + ?
-
 ?

Synonyms

Synonyms Comment Organism
CAAX prenyl protease 1 homolog
-
 Homo sapiens
Zmpste24
-
 Homo sapiens