F8 N1941D [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9662042
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
FVIII N1941D
Icon
F8 N1941D [endoplasmic reticulum lumen] icon
F8 N1941D [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
1908096 Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

Higuchi, M, Kazazian, HH, Kasch, L, Warren, TC, McGinniss, MJ, Phillips, JA, Kasper, C, Janco, R, Antonarakis, SE

Proc. Natl. Acad. Sci. U.S.A. 1991
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 candidate 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 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]
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-asparagine 1941 replaced with L-aspartic acid
Coordinate
1941
PsiMod
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
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
RefSeq
Guide to Pharmacology - Targets
ClinGen
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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