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F8 Y365C [extracellular region]
Stable Identifier
R-HSA-9668207
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
FVIII Y365C
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 cleavage by thrombin (Homo sapiens)
F8 variant is not cleaved by thrombin (Homo sapiens)
FVIII variant:vWF multimer [extracellular region] (Homo sapiens)
F8 thrombin cleavage site variant [extracellular region] (Homo sapiens)
F8 heavy chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
F8 heavy chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
F8 Y365C [extracellular region] (Homo sapiens)
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 candidate of
F8 heavy chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
Other forms of this molecule
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 R1126W [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]
F8 S392L [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 a3 acidic polypeptide [extracellular region]
F8(20-391) [extracellular region]
FVIII (392-759) [extracellular region]
F8(1709-2351) [extracellular region]
factor VIIIa B chain [extracellular region]
Factor VIII precursor [endoplasmic reticulum lumen]
Coagulation factor VIII precursor [platelet alpha granule lumen]
Factor VIII precursor [extracellular region]
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]
Modified Residues
Name
L-tyrosine 365 replaced with L-cysteine
Coordinate
365
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
factor VIII deficiency
DOID:12134
Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
Mondo
0010602
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(23-763) [platelet alpha granule lumen]
(R-HSA-114662)
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)
0.623
2
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![F8 Y365C [extracellular region] icon](/icon/R-ICO-014166.svg){kind=icon}
