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Literature summary for 3.4.11.7 extracted from

  • Tonna, S.; Dandapani, S.V.; Uscinski, A.; Appel, G.B.; Schloendorff, J.S.; Zhang, K.; Denker, B.M.; Pollak, M.R.
    Functional genetic variation in aminopeptidase A (ENPEP): Lack of clear association with focal and segmental glomerulosclerosis (FSGS) (2008), Gene, 410, 44-52.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.11.7

Cloned(Commentary)

Cloned (Comment) Organism
the full-length human GATEWAY ENPEP cDNA clone is cloned into the pEGFP-N1 vector for transfection of COS-1 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A676T private non-conservative allele detected in ENPEP, nucleotide change 2028G>A Homo sapiens
D622N private non-conservative allele detected in ENPEP, nucleotide change 1866G>A Homo sapiens
E172Q polymorphism detected in ENPEP, missense mutation, nucleotide change 516G>C Homo sapiens
E686K private non-conservative allele detected in ENPEP, nucleotide change 2058G>A Homo sapiens
E687D private non-conservative allele detected in ENPEP, nucleotide change 2061G>T Homo sapiens
I32V polymorphism detected in ENPEP, missense mutation, nucleotide change 96A>G Homo sapiens
K923I private non-conservative allele detected in ENPEP, nucleotide change 2769A>T Homo sapiens
Q213R polymorphism detected in ENPEP, missense mutation, nucleotide change 639A>G Homo sapiens
Q435E private non-conservative allele detected in ENPEP, nucleotide change 1305C>G Homo sapiens
R159S polymorphism detected in ENPEP, missense mutation, nucleotide change 477G>T Homo sapiens
R925G private non-conservative allele detected in ENPEP, nucleotide change 2775A>G Homo sapiens
S861R polymorphism detected in ENPEP, missense mutation, nucleotide change 2583C>G Homo sapiens
V218A polymorphism detected in ENPEP, missense mutation, nucleotide change 654A>C Homo sapiens
W413X polymorphism detected in ENPEP, nonsense mutation, nucleotide change 1239G>T Homo sapiens
Y544F polymorphism detected in ENPEP, missense mutation, nucleotide change 1632A>T Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Zn2+
-
 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Glu-p-nitroanilide + H2O activity assay, cleaved p-nitroanilide is measured Homo sapiens Glu + p-nitroaniline
-
 ?

Synonyms

Synonyms Comment Organism
aminopeptidase A
-
 Homo sapiens
aminopeptidase A ectopeptidase
-
 Homo sapiens
ENPEP
-
 Homo sapiens
glutamyl aminopeptidase
-
 Homo sapiens