|
gptkbp:instanceOf
|
UniProt accession number
|
|
gptkbp:activeSiteResidue
|
Aspartate 102
Histidine 57
Serine 195
|
|
gptkbp:alternativeName
|
ELANE_HUMAN
Leukocyte elastase
Medullasin
Elastase 2
Serine protease 3
|
|
gptkbp:associatedWith
|
Cyclic neutropenia
Severe congenital neutropenia
|
|
gptkbp:catalyzes
|
Hydrolysis of proteins, including elastin
|
|
gptkbp:database
|
gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:HGNC
gptkb:PDB
gptkb:UniProt
gptkb:Ensembl
|
|
gptkbp:EC_number
|
3.4.21.37
|
|
gptkbp:Entrez_Gene_ID
|
1991
ENSG00000197561
|
|
gptkbp:enzyme
|
true
|
|
gptkbp:expressedIn
|
Expressed in blood
Expressed in bone marrow
|
|
gptkbp:function
|
Plays a role in host defense
Serine protease involved in degradation of proteins
|
|
gptkbp:gene
|
gptkb:ELANE
|
|
gptkbp:HGNC_ID
|
HGNC:3309
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
P08238
|
|
gptkbp:length
|
267 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.3
|
|
gptkbp:molecularWeight
|
29,400 Da
|
|
gptkbp:mutationAssociatedWith
|
Mutations cause neutropenia syndromes
|
|
gptkbp:OMIM
|
130130
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
9606
|
|
gptkbp:orthologIn
|
Mouse Elane
Rat Elane
|
|
gptkbp:pathway
|
Innate Immune System
Neutrophil degranulation
|
|
gptkbp:postTranslationalModification
|
Phosphorylation
Glycosylation
|
|
gptkbp:protein_name
|
Neutrophil elastase
|
|
gptkbp:refersTo
|
Elastase, neutrophil expressed
|
|
gptkbp:sequenceStatus
|
Reviewed
|
|
gptkbp:structure
|
Contains 1 peptidase S1 domain
|
|
gptkbp:subcellularLocation
|
Secreted
Azurophil granule
|
|
gptkbp:tissue_specificity
|
Neutrophils
|
|
gptkbp:UniProt_entry_name
|
ELANE_HUMAN
|
|
gptkbp:bfsParent
|
gptkb:6p21.1_(HSP90AB1)
gptkb:HSP90AB1
gptkb:Heat_Shock_Protein_90
|
|
gptkbp:bfsLayer
|
8
|