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Literature summary for 3.4.21.37 extracted from

  • Thusberg, J.; Vihinen, M.
    Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations (2006), Hum. Mutat., 27, 1230-1243.
    View publication on PubMed
Search for more literature for 3.4.21.37

Cloned(Commentary)

Cloned (Comment) Organism
gene ela2 Homo sapiens

Protein Variants

Protein Variants Comment Organism
A127P a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
A57T a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
C151S a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
C151Y a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
C71R a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
C71S a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
G210V a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
G214R a naturally occuring disease causing mutation, the mutation affects enzyme stability Homo sapiens
G85E a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
H53L a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
I60T a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
L121P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
L152P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
L47P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
L84P a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
additional information mutations in the HNE gene ela2 cause cyclic and congenital neutropenia Homo sapiens
P205R a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
P42L a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
R220Q a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
R81P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
S46F a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability, and the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
V101M a naturally occuring disease causing mutation, the mutation affects enzyme stability Homo sapiens
V82M a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
azurophil granule enzyme synthesis Homo sapiens 42582
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
30000
-
 x * 30000 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
Antithrombin III + H2O Homo sapiens degradation ?
-
 ?
Collagen + H2O Homo sapiens degradation ?
-
 ?
Elastin + H2O Homo sapiens degradation ?
-
 ?
Fibrin + H2O Homo sapiens degradation ?
-
 ?
Fibrinogen + H2O Homo sapiens degradation ?
-
 ?
additional information Homo sapiens the enzyme digests microbes after phagocytosis in polymorphonuclear neutrophil primary granules, which fuse with neutrophil phagolysosomes, and also acts extracellularly at sites of inflammation, overview, mutations in the human neutrophil elastase gene cause cyclic and congenital neutropenia leading to an immunodeficiency characterized by decreased or oscillating levels of neutrophils in the blood ?
-
 ?
Proteoglycan + H2O Homo sapiens degradation ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P08246 gene ela2
-

Source Tissue

Source Tissue Comment Organism Textmining
neutrophil
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Antithrombin III + H2O degradation Homo sapiens ?
-
 ?
Collagen + H2O degradation Homo sapiens ?
-
 ?
Elastin + H2O degradation Homo sapiens ?
-
 ?
Fibrin + H2O degradation Homo sapiens ?
-
 ?
Fibrinogen + H2O degradation Homo sapiens ?
-
 ?
additional information the enzyme digests microbes after phagocytosis in polymorphonuclear neutrophil primary granules, which fuse with neutrophil phagolysosomes, and also acts extracellularly at sites of inflammation, overview, mutations in the human neutrophil elastase gene cause cyclic and congenital neutropenia leading to an immunodeficiency characterized by decreased or oscillating levels of neutrophils in the blood Homo sapiens ?
-
 ?
additional information structure-function relationships, overview Homo sapiens ?
-
 ?
Proteoglycan + H2O degradation Homo sapiens ?
-
 ?

Subunits

Subunits Comment Organism
? x * 30000 Homo sapiens

Synonyms

Synonyms Comment Organism
ELA2
-
 Homo sapiens
HNE
-
 Homo sapiens
leukocyte elastase
-
 Homo sapiens
neutrophil elastase
-
 Homo sapiens