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

BRENDA support

Literature summary 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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.4.21.37 gene ela2 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.4.21.37 A127P a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
3.4.21.37 A57T a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
3.4.21.37 C151S a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 C151Y a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 C71R a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 C71S a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 G210V a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
3.4.21.37 G214R a naturally occuring disease causing mutation, the mutation affects enzyme stability Homo sapiens
3.4.21.37 G85E a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 H53L a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
3.4.21.37 I60T a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 L121P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
3.4.21.37 L152P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
3.4.21.37 L47P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
3.4.21.37 L84P a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 additional information mutations in the HNE gene ela2 cause cyclic and congenital neutropenia Homo sapiens
3.4.21.37 P205R a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 P42L a naturally occuring disease causing mutation, the mutation increase beta-aggregation propensity in the enzyme Homo sapiens
3.4.21.37 R220Q a naturally occuring disease causing mutation, the mutation causes loss of stability Homo sapiens
3.4.21.37 R81P a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens
3.4.21.37 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
3.4.21.37 V101M a naturally occuring disease causing mutation, the mutation affects enzyme stability Homo sapiens
3.4.21.37 V82M a naturally occuring disease causing mutation, the mutation causes loss of stability and affects enzyme stability Homo sapiens

Localization

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

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
3.4.21.37 30000
-
 x * 30000 Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.4.21.37 Antithrombin III + H2O Homo sapiens degradation ?
-
 ?
3.4.21.37 Collagen + H2O Homo sapiens degradation ?
-
 ?
3.4.21.37 Elastin + H2O Homo sapiens degradation ?
-
 ?
3.4.21.37 Fibrin + H2O Homo sapiens degradation ?
-
 ?
3.4.21.37 Fibrinogen + H2O Homo sapiens degradation ?
-
 ?
3.4.21.37 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 ?
-
 ?
3.4.21.37 Proteoglycan + H2O Homo sapiens degradation ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.4.21.37 Homo sapiens P08246 gene ela2
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.4.21.37 neutrophil
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.4.21.37 Antithrombin III + H2O degradation Homo sapiens ?
-
 ?
3.4.21.37 Collagen + H2O degradation Homo sapiens ?
-
 ?
3.4.21.37 Elastin + H2O degradation Homo sapiens ?
-
 ?
3.4.21.37 Fibrin + H2O degradation Homo sapiens ?
-
 ?
3.4.21.37 Fibrinogen + H2O degradation Homo sapiens ?
-
 ?
3.4.21.37 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 ?
-
 ?
3.4.21.37 additional information structure-function relationships, overview Homo sapiens ?
-
 ?
3.4.21.37 Proteoglycan + H2O degradation Homo sapiens ?
-
 ?

Subunits

EC Number Subunits Comment Organism
3.4.21.37 ? x * 30000 Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
3.4.21.37 ELA2
-
 Homo sapiens
3.4.21.37 HNE
-
 Homo sapiens
3.4.21.37 leukocyte elastase
-
 Homo sapiens
3.4.21.37 neutrophil elastase
-
 Homo sapiens