F8 N1941S [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9662030
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
FVIII N1941S
Icon
F8 N1941S [endoplasmic reticulum lumen] icon
F8 N1941S [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
21217077 Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein

Brown, HC, Summers, RJ, Lollar, P, Healey, JF, Doering, CB, Parker, ET, Kempton, CL, Meeks, SL

Blood 2011
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
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 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 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-asparagine 1941 replaced with L-serine
Coordinate
1941
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
L-asparagine removal [MOD:01633]
A protein modification that effectively removes or replaces an L-asparagine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
ClinGen
Interactors (1)
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