Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.4.23.46 extracted from

  • Heilig, E.A.; Xia, W.; Shen, J.; Kelleher, R.J.
    A presenilin-1 mutation identified in familial Alzheimer’s disease with cotton wool plaques causes nearly complete loss of gamma-secretase activity (2010), J. Biol. Chem., 285, 22350-22359.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
PS1 is expressed in mouse embryo fibroblasts lacking endogenous PS1 and PS2 Homo sapiens

Protein Variants

Protein Variants Comment Organism
D257A the mutation causes essentially complete loss of gamma-secretase activity Homo sapiens
L435F the mutation resides in a conserved C-terminal PAL sequence implicated in active site conformation and catalytic activity, the mutation causes a nearly complete loss of gamma-secretase activity Homo sapiens
L435R the mutation causes essentially complete loss of gamma-secretase activity Homo sapiens
P433L the mutation causes essentially complete loss of gamma-secretase activity Homo sapiens
P436Q the mutation causes partial loss of enzyme function Homo sapiens
P436S the mutation causes partial loss of enzyme function Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
amyloid precursor protein + H2O Homo sapiens
-
beta-amyloid peptide 40 + beta-amyloid peptide 42
-
?
N-cadherin + H2O Homo sapiens
-
?
-
?
Notch protein + H2O Homo sapiens
-
?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
amyloid precursor protein + H2O
-
Homo sapiens beta-amyloid peptide 40 + beta-amyloid peptide 42
-
?
N-cadherin + H2O
-
Homo sapiens ?
-
?
Notch protein + H2O
-
Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
gamma-secretase
-
Homo sapiens
presenilin-1 catalytic component of the multisubunit gamma-secretase complex Homo sapiens
presenilin-2 catalytic component of the multisubunit gamma-secretase complex Homo sapiens