SERPINC1

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:ATIII
AT3
antithrombin-III
gptkbp:associatedWith pulmonary embolism
venous thromboembolism
deep vein thrombosis
antithrombin deficiency
gptkbp:clinicalTrialPhase antithrombin activity assay
gptkbp:discoveredBy Edward T. Merrill
gptkbp:encodes gptkb:antithrombin
gptkbp:Entrez_Gene_ID 462
ENSG00000129219
gptkbp:expressedIn liver
gptkbp:function gptkb:serine_protease
regulation of blood coagulation
gptkbp:geneType protein-coding
gptkbp:hasTranscriptVariant multiple
gptkbp:HGNC_ID HGNC:775
https://www.w3.org/2000/01/rdf-schema#label SERPINC1
gptkbp:locatedOnChromosome chromosome 1
1q25.1
gptkbp:mutationAssociatedWith hereditary thrombophilia
gptkbp:OMIM 107300
gptkbp:orthologInMouse Serpinc1
gptkbp:product gptkb:antithrombin_III
gptkbp:proteinFamily serpin superfamily
gptkbp:species gptkb:Homo_sapiens
gptkbp:UniProtID P01008
gptkbp:bfsParent gptkb:antithrombin
gptkbp:bfsLayer 7