F8 I2117S [extracellular region]

Stable Identifier
R-HSA-9665820
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
FVIII I2117S
Icon
F8 I2117S [extracellular region] icon
F8 I2117S [extracellular region] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
10910910 A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor

Jacquemin, M, Lavend'homme, R, Benhida, A, Vanzieleghem, B, d'Oiron, R, Lavergne, JM, Brackmann, HH, Schwaab, R, VandenDriessche, T, Chuah, MK, Hoylaerts, M, Gilles, JG, Peerlinck, K, Vermylen, J, Saint-Remy, JM

Blood 2000
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
BioGPS Gene:2157 F8
COSMIC (genes):F8 F8
CTD Gene:2157 F8
dbSNP Gene:2157 F8
ENSEMBL:ENSG00000185010 F8
HGNC:3546 F8
KEGG:hsa:2157 F8
Monarch:2157 F8
NCBI Gene:2157 F8
OMIM:300841 F8
UCSC:P00451 F8
Reference Transcript
Participates
as a member of
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 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]
F8 Y365C [extracellular region]
F8(392-759) [plasma membrane]
F8(1709-2351) [plasma membrane]
F8(20-391) [plasma membrane]
F8(20-1332) [extracellular region]
F8(1668-2351) [extracellular region]
F8(1668-1708) [extracellular region]
F8(20-391) [extracellular region]
F8(392-759) [extracellular region]
F8(1709-2351) [extracellular region]
F8(760-1332) [extracellular region]
F8 precursor [endoplasmic reticulum lumen]
Coagulation factor VIII precursor [platelet alpha granule lumen]
F8 precursor [extracellular region]
F8 precursor [COPII-coated ER to Golgi transport vesicle]
F8 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]
F8 precursor [Golgi lumen]
OSulf-6Y-F8 precursor [Golgi lumen]
Modified Residues
Name
L-isoleucine 2117 replaced with L-serine
Coordinate
2117
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
L-isoleucine removal [MOD:01640]
A protein modification that effectively removes or replaces an L-isoleucine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
GeneCards
F8
HPA
Pharos - Targets
Orphanet
F8
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (1)
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