|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:A1AT
PI
alpha-1 protease inhibitor
serpin family A member 1
|
|
gptkbp:associatedWith
|
gptkb:COPD
gptkb:alpha-1_antitrypsin_deficiency
cirrhosis
hepatocellular carcinoma
|
|
gptkbp:clinicalTrialPhase
|
A1AT serum level
|
|
gptkbp:discoveredBy
|
Laurell and Eriksson
|
|
gptkbp:encodes
|
gptkb:alpha-1_antitrypsin
|
|
gptkbp:Entrez_Gene_ID
|
5265
ENSG00000197249
|
|
gptkbp:expressedIn
|
gptkb:cancer
liver
|
|
gptkbp:function
|
gptkb:serine_protease
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasAllele
|
gptkb:Z_allele
S allele
M allele
|
|
gptkbp:hasBiomarker
|
gptkb:cancer
liver function
|
|
gptkbp:hasTranscriptVariant
|
NM_000295.5
NM_001127700.2
NM_001127701.2
|
|
gptkbp:HGNC_ID
|
HGNC:8941
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SERPINA1
|
|
gptkbp:inhibitedBy
|
gptkb:trypsin
chymotrypsin
neutrophil elastase
|
|
gptkbp:length
|
418 amino acids
|
|
gptkbp:locatedOnChromosome
|
14q32.13
|
|
gptkbp:molecularWeight
|
52 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:liver_disease
nonsense
emphysema
missense
frameshift
|
|
gptkbp:OMIM
|
107400
|
|
gptkbp:orthologInMouse
|
Serpina1
Serpina1a
|
|
gptkbp:pathway
|
acute phase response pathway
protease inhibitor pathway
|
|
gptkbp:proteinFamily
|
serpin superfamily
serpin
|
|
gptkbp:regulates
|
acute phase response
|
|
gptkbp:subcellularLocation
|
gptkb:plasma
gptkb:cytoplasm
extracellular space
|
|
gptkbp:UniProtID
|
P01009
|
|
gptkbp:bfsParent
|
gptkb:chromosome_14
gptkb:Serpina
|
|
gptkbp:bfsLayer
|
7
|