|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:Christmas_factor
gptkb:factor_IX
|
|
gptkbp:associatedWith
|
gptkb:hemophilia_B
|
|
gptkbp:clinicalTrialPhase
|
factor IX activity assay
|
|
gptkbp:discoveredBy
|
gptkb:R.G._Macfarlane
|
|
gptkbp:discoveredIn
|
1952
|
|
gptkbp:encodes
|
coagulation factor IX
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:F9
2158
ENSG00000101981
rs28933979
|
|
gptkbp:expressedIn
|
liver
high in liver
|
|
gptkbp:function
|
blood coagulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:3545
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
F9 gene
|
|
gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:KEGGID
|
hsa:2158
|
|
gptkbp:length
|
461 amino acids
34 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:X_chromosome
Xq27.1-q27.2
|
|
gptkbp:molecularWeight
|
51 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
splice site mutation
|
|
gptkbp:numberOfExons
|
8
|
|
gptkbp:OMIM
|
300746
|
|
gptkbp:orthologInMouse
|
gptkb:F9
|
|
gptkbp:pathway
|
intrinsic pathway of blood coagulation
|
|
gptkbp:postTranslationalModification
|
glycosylation
gamma-carboxylation
proteolytic cleavage
|
|
gptkbp:product
|
gptkb:factor_IX
|
|
gptkbp:proteinFamily
|
gptkb:serine_protease
EGF-like domain
Gla domain
serine protease domain
|
|
gptkbp:Reactome
|
R-HSA-140837
|
|
gptkbp:referenceGenome
|
NM_000133
|
|
gptkbp:referenceProteinSequence
|
NP_000124
|
|
gptkbp:significance
|
mutations cause hemophilia B
|
|
gptkbp:targetOfDrug
|
hemophilia B treatment
|
|
gptkbp:UniProtID
|
P00740
|
|
gptkbp:bfsParent
|
gptkb:factor_IX
|
|
gptkbp:bfsLayer
|
6
|