F8 N1941S [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9662030
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII N1941S
F8 N1941S [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
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

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

Blood 2011
External Reference Information
External Reference
Gene Names
F8, F8C
Chain
signal peptide:1-19, chain:20-2351, chain:20-1332, chain:20-759, chain:760-1332, chain:1668-2351
Participates
Other forms of this molecule
Modified Residues
Name
L-asparagine 1941 replaced with L-serine
Coordinate
1941
PsiMod
A protein modification that effectively converts a source amino acid residue to L-serine.
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
Guide to Pharmacology - Targets
ClinGen
OpenTargets
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
GeneCards
F8
Pharos - Targets
Orphanet
F8
ZINC - Predictions - Purchasable
HMDB Protein
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