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FLASH GENE

Symbol

F9

contributors: mct/npt - updated : 02-06-2013

HGNC name	coagulation factor IX
HGNC id	3551

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminus GLA domain, that with C2 domain of factor VIIIa are involved in phospholipid binding and are required for the activation of factor X (Soeda 2009)
	an EGF2 domain (contacts between EGF2 and the protease domain of FIXa are crucial for FIXa enzymatic activity and for the assembly of the FX-activating complex) (Fribourg 2006)
	two cysteine-rich domains highly homologous to EGF,
	a C terminal catalytic domain

conjugated

GlycoP

mono polymer

aggregate

isoforms

Precursor

. zymogen

HOMOLOGY

Homologene

FAMILY

peptidase S1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION

vitamin K-dependent, serine protease, activator of FX, through interactions with Ca2+, membrane phospholipids end FVIII

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

coagulation/hemostasis

PATHWAY

metabolism

signaling

a component	plasma thromboplastic component
	heterodimer of a light chain and a heavy chain, disulfide-linked

INTERACTION

DNA

RNA

small molecule

protein	expression of F9 is crucially dependent on ONECUT factors (ONECUT1, ONECUT2)
	hydrophobic helical stack between the GLA and EGF1 domains of F9 is predicted to be primary interacting region with the A3-C2 domain interface of F8

cell & other

REGULATION

activated by

FXIa which excises the activation peptide and produces a molecule with a heavy and a light chain bound by disulfide bond(s)

ASSOCIATED DISORDERS

corresponding disease(s)

F9D

related resource

Haemophilia B Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   is a common risk factor for deep vein thrombosis (van Hylckama 2000)

Susceptibility

for deep vein thrombosis

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS