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F8 R1126W [endoplasmic reticulum lumen]
Stable Identifier
R-HSA-9662699
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
FVIII R1126W
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) (Homo sapiens)
Defective factor VIII causes hemophilia A (Homo sapiens)
Defective F8 secretion (Homo sapiens)
F8 variant is not secreted (Homo sapiens)
Non-secretable F8 variant [endoplasmic reticulum lumen] (Homo sapiens)
F8 R1126W [endoplasmic reticulum lumen] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
24108539
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein
Pahl, S
,
Oldenburg, J
,
Driesen, J
,
Pavlova, A
Thromb. Haemost.
2014
External Reference Information
External Reference
UniProt:P00451 F8
Gene Names
F8, F8C
Chain
signal peptide:1-19, chain:20-2351, chain:20-1332, chain:20-759, chain:760-1332, chain:1668-2351
Reference Genes
COSMIC (genes):F8 F8
dbSNP Gene:2157 F8
ENSEMBL:ENSG00000185010 F8
Participates
as a member of
Non-secretable F8 variant [endoplasmic reticulum lumen] (Homo sapiens)
Other forms of this molecule
Factor VIII precursor [extracellular region]
Coagulation factor VIII precursor [platelet alpha granule lumen]
F8(392-759) D579A [plasma membrane]
F8(392-759) V578A [plasma membrane]
F8(392-759) R546W [plasma membrane]
F8(392-759) S577F [plasma membrane]
F8(392-759) I585T [plasma membrane]
F8 N637S [endoplasmic reticulum lumen]
F8 G2013R [endoplasmic reticulum lumen]
F8 W604R [endoplasmic reticulum lumen]
F8 R2326L [endoplasmic reticulum lumen]
F8 P947R [endoplasmic reticulum lumen]
F8 H1066Y [endoplasmic reticulum lumen]
F8 S603G [endoplasmic reticulum lumen]
F8 E1057K [endoplasmic reticulum lumen]
F8 E600D [endoplasmic reticulum lumen]
F8 W604C [endoplasmic reticulum lumen]
F8 D845E [endoplasmic reticulum lumen]
F8 G720S [endoplasmic reticulum lumen]
F8 E600Q [endoplasmic reticulum lumen]
F8 R2326Q [endoplasmic reticulum lumen]
F8 R602G [endoplasmic reticulum lumen]
F8 A1610S [endoplasmic reticulum lumen]
F8 D599H [endoplasmic reticulum lumen]
F8 S603T [endoplasmic reticulum lumen]
F8 V2144_Y2351delinsHGVLENGKNWEPSYRW [endoplasmic reticulum lumen]
F8 R1329H [endoplasmic reticulum lumen]
F8 N601K [endoplasmic reticulum lumen]
F8 R2016W [endoplasmic reticulum lumen]
F8 L1481P [endoplasmic reticulum lumen]
F8 S603R [endoplasmic reticulum lumen]
F8 M633T [endoplasmic reticulum lumen]
F8 N1941S [endoplasmic reticulum lumen]
F8 A488T [endoplasmic reticulum lumen]
F8 R612C [endoplasmic reticulum lumen]
F8 D337N [endoplasmic reticulum lumen]
F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen]
F8 D599V [endoplasmic reticulum lumen]
F8 N2137Q [endoplasmic reticulum lumen]
F8 E600K [endoplasmic reticulum lumen]
F8 N601D [endoplasmic reticulum lumen]
F8 N601H [endoplasmic reticulum lumen]
F8 C348S [endoplasmic reticulum lumen]
F8 S603C [endoplasmic reticulum lumen]
F8 A488S [endoplasmic reticulum lumen]
F8 N1941D [endoplasmic reticulum lumen]
F8 G1967D [endoplasmic reticulum lumen]
F8 P2067L [endoplasmic reticulum lumen]
F8 G720D [endoplasmic reticulum lumen]
F8 P2162L [endoplasmic reticulum lumen]
F8 M633I [endoplasmic reticulum lumen]
F8 C348R [endoplasmic reticulum lumen]
F8 R2178C [extracellular region]
F8 I2117S [extracellular region]
F8 P2319S [extracellular region]
F8 P2319L [extracellular region]
F8 P1828L [extracellular region]
F8 R2323H [extracellular region]
F8 S2138Y [extracellular region]
F8 R2169H [extracellular region]
F8 Y1699F [extracellular region]
F8 S2192I [extracellular region]
F8 Q2106E [extracellular region]
F8 R2326Q [extracellular region]
F8 Q2330P [extracellular region]
F8 A2220P [extracellular region]
F8 A2220del [extracellular region]
F8 R1708C [extracellular region]
F8 R1708H [extracellular region]
F8 R391C [extracellular region]
F8 R391H [extracellular region]
factor VIIIa A2 polypeptide [plasma membrane]
factor VIIIa A3 C1 C2 polypeptide [plasma membrane]
factor VIIIa A1 polypeptide [plasma membrane]
factor VIII heavy chain [extracellular region]
factor VIII light chain [extracellular region]
factor VIIIa B A3 acidic polypeptide [extracellular region]
factor VIIIa A1 polypeptide [extracellular region]
factor VIIIa A2 polypeptide [extracellular region]
factor VIIIa A3 C1 C2 polypeptide [extracellular region]
Factor VIII precursor [endoplasmic reticulum lumen]
Factor VIII precursor [COPII-coated ER to Golgi transport vesicle]
Factor VIII precursor [endoplasmic reticulum-Golgi intermediate compartment membrane]
F8(20-391) A303E [extracellular region]
F8(20-391) S308L [extracellular region]
F8(392-759) R550C [extracellular region]
F8(392-759) R717W [extracellular region]
F8(392-759) R717L [extracellular region]
F8(392-759) R550H [extracellular region]
F8(392-759) R550G [extracellular region]
F8(392-759) N713I [extracellular region]
F8(356-372) [extracellular region]
F8(582-640) [extracellular region]
F8(20-355) [extracellular region]
F8(373-581) [extracellular region]
F8 Y1699F [Golgi lumen]
Factor VIII precursor [Golgi lumen]
OSulf-6Y-FVIII precursor [Golgi lumen]
F8 Y365C [extracellular region]
F8 S392L [extracellular region]
Modified Residues
Name
L-arginine 1126 replaced with L-tryptophan
Coordinate
1126
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
factor VIII deficiency
DOID:12134
Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P04275 VWF
20
VWF(23-763) [extracellular region]
(R-HSA-67271)
VWF(764-2813) [extracellular region]
(R-HSA-158327)
VWF L1733P (764-2813) [extracellular region]
(R-HSA-9824345)
VWF S1731L (764-2813) [extracellular region]
(R-HSA-9823681)
VWF K1794E (764-2813) [extracellular region]
(R-HSA-9823657)
VWF S1731T (764-2813) [extracellular region]
(R-HSA-9823615)
VWF S1783A (764-2813) [extracellular region]
(R-HSA-9823588)
VWF H1786D (764-2813) [extracellular region]
(R-HSA-9823634)
VWF W1745C (764-2813) [extracellular region]
(R-HSA-9823611)
VWF(764-1605) [extracellular region]
(R-HSA-9822545)
VWF (1606-2813) [extracellular region]
(R-HSA-9822534)
VWF G1579R (764-2813) [extracellular region]
(R-HSA-9844214)
VWF Y1584C (764-2813) [extracellular region]
(R-HSA-9844202)
VWF G1631D (764-2813) [extracellular region]
(R-HSA-9844230)
VWF C1099P (764-2813) [extracellular region]
(R-HSA-9844221)
VWF I1568N (764-2813) [extracellular region]
(R-HSA-9844203)
VWF Y1584C (764-1605) [extracellular region]
(R-HSA-9852765)
VWF G1631D (1606-2813) [extracellular region]
(R-HSA-9852788)
VWF I1568N (764-1605) [extracellular region]
(R-HSA-9852790)
VWF C1099P (764-1605) [extracellular region]
(R-HSA-9852778)
0.623
2
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