|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
A1AT gene
PI gene
|
|
gptkbp:associatedWith
|
gptkb:liver_disease
gptkb:alpha-1_antitrypsin_deficiency
emphysema
chronic obstructive pulmonary disease
|
|
gptkbp:clinicalTrialPhase
|
A1AT serum level measurement
|
|
gptkbp:database
|
gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:OMIM
gptkb:UniProt
gptkb:Ensembl
|
|
gptkbp:deficientAllele
|
gptkb:Z_allele
S allele
|
|
gptkbp:discoveredBy
|
Laurell and Eriksson
|
|
gptkbp:discoveredIn
|
1963
|
|
gptkbp:encodes
|
gptkb:alpha-1_antitrypsin
|
|
gptkbp:Entrez_Gene_ID
|
5265
ENSG00000197249
|
|
gptkbp:expressedIn
|
gptkb:cancer
liver
|
|
gptkbp:function
|
protects tissues from enzymes of inflammatory cells
inhibits neutrophil elastase
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
NM_000295.4
|
|
gptkbp:HGNC_ID
|
HGNC:8941
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SERPINA1 gene
|
|
gptkbp:inheritance
|
autosomal codominant
|
|
gptkbp:length
|
418 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_14
14q32.13
|
|
gptkbp:majorAllele
|
M allele
|
|
gptkbp:molecularWeight
|
46 kDa
|
|
gptkbp:mutationAssociatedWith
|
deletion
insertion
missense mutation
nonsense mutation
|
|
gptkbp:OMIM
|
107400
|
|
gptkbp:orthologInMouse
|
Serpina1
Serpina1a
|
|
gptkbp:pathway
|
acute phase response
protease inhibitor pathway
|
|
gptkbp:product
|
gptkb:serine_protease
|
|
gptkbp:proteinFamily
|
serpin family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P01009
|
|
gptkbp:bfsParent
|
gptkb:alpha-1_antitrypsin_deficiency
gptkb:alpha-1-antitrypsin
|
|
gptkbp:bfsLayer
|
7
|