|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
alpha-1 proteinase inhibitor
serpin A1
|
|
gptkbp:alternativeSplicing
|
no
|
|
gptkbp:associatedWith
|
gptkb:COPD
cirrhosis
hepatocellular carcinoma
|
|
gptkbp:category
|
serpin family
|
|
gptkbp:deficiencyCauses
|
gptkb:liver_disease
emphysema
|
|
gptkbp:discoveredBy
|
Laurell and Eriksson
|
|
gptkbp:discoveredIn
|
1963
|
|
gptkbp:encodedBy
|
gptkb:SERPINA1_gene
|
|
gptkbp:foundIn
|
gptkb:human
other mammals
|
|
gptkbp:fullName
|
gptkb:Alpha-1_antitrypsin
|
|
gptkbp:function
|
gptkb:serine_protease
|
|
gptkbp:gene
|
gptkb:SERPINA1
|
|
gptkbp:glycosylation
|
yes
|
|
gptkbp:halfLife
|
4–5 days
|
|
gptkbp:inheritance
|
autosomal codominant
|
|
gptkbp:inhibitedBy
|
neutrophil elastase
|
|
gptkbp:isAcutePhaseProtein
|
yes
|
|
gptkbp:locatedOnChromosome
|
chromosome 14q32.13
|
|
gptkbp:location
|
blood plasma
|
|
gptkbp:measures
|
serum A1AT level
|
|
gptkbp:medicalUse
|
diagnosis of alpha-1 antitrypsin deficiency
|
|
gptkbp:molecularWeight
|
52 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Z_allele
gptkb:alpha-1_antitrypsin_deficiency
S allele
Null allele
|
|
gptkbp:OMIM
|
107400
|
|
gptkbp:PDB
|
1QLP
|
|
gptkbp:range
|
0.9–2.0 g/L
|
|
gptkbp:significance
|
protects tissues from enzymes of inflammatory cells
|
|
gptkbp:structure
|
gptkb:protein
|
|
gptkbp:synthesisType
|
liver
|
|
gptkbp:treatment
|
augmentation therapy
|
|
gptkbp:UniProtID
|
P01009
|
|
gptkbp:bfsParent
|
gptkb:Alpha-1_antitrypsin
gptkb:alpha-1_antitrypsin
gptkb:SERPINA1
gptkb:alpha-1-antitrypsin
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
A1AT
|