F8 R2169H [extracellular region]

Stable Identifier
R-HSA-9665787
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
FVIII R2169H
Icon
F8 R2169H [extracellular region] icon
F8 R2169H [extracellular region] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
10456452 Some factor VIII (FVIII) inhibitors recognise a FVIII epitope(s) that is present only on FVIII-vWF complexes

Saint-Remy, JM, Mazurier, C, Jorieux, S, Gilles, JG, Peerlinck, K, Jacquemin, MG, Vermylen, J, Hoylaerts, M, Lavend'homme, R

Thromb. Haemost. 1999
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

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

Blood 2000
10607698 A human antibody directed to the factor VIII C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor

Saint-Remy, JM, Vander Elst, L, Gilles, JG, Schwaab, R, Jacquemin, M, Peerlinck, K, Benhida, A, d'Oiron, R, Thielemans, K, Bakkus, M, Desqueper, B, Vermylen, J, Lavend'homme, R

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
ENSEMBL:ENSG00000185010.15 F8
HGNC:3546 F8
KEGG Gene (Homo sapiens):2157 F8
Monarch:2157 F8
NCBI Gene:2157 F8
OMIM:300841 F8
UCSC:P00451 F8
Reference Transcript
Other Identifiers
11722979_a_at
11722980_a_at
11752341_a_at
17115729
205756_PM_s_at
205756_s_at
2157
37550_at
4027640
4027641
4027642
4027643
4027644
4027645
4027646
4027648
4027649
4027650
4027651
4027652
4027659
4027660
4027661
4027662
4027663
4027664
4027665
4027666
4027667
4027668
4027669
4027670
4027672
4027674
4027675
4027676
4027677
4027678
4027680
4027681
4027682
4027683
4027686
4027689
4027690
4027691
8176193
A_23_P217643
A_24_P314451
GE57825
GO:0003824
GO:0005507
GO:0005515
GO:0005576
GO:0005615
GO:0005783
GO:0005788
GO:0005794
GO:0005796
GO:0005886
GO:0006953
GO:0006954
GO:0007596
GO:0007597
GO:0007599
GO:0016491
GO:0030134
GO:0031093
GO:0031410
GO:0033116
GO:0042060
GO:0043226
GO:0046872
GO:0051604
HMNXSV003018712
ILMN_1670229
ILMN_1675083
ILMN_1691584
ILMN_2370622
M14113_at
PH_hs_0024930
TC0X001547.hg
g10518504_3p_a_at
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 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 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]
OSulf-6Y-FVIII precursor [Golgi lumen]
Factor VIII precursor [Golgi lumen]
F8 Y1699F [Golgi lumen]
F8(373-581) [extracellular region]
F8(20-355) [extracellular region]
F8(582-640) [extracellular region]
F8(356-372) [extracellular region]
F8(392-759) N713I [extracellular region]
F8(392-759) R550G [extracellular region]
F8(392-759) R550H [extracellular region]
F8(392-759) R717L [extracellular region]
F8(392-759) R717W [extracellular region]
F8(392-759) R550C [extracellular region]
F8(20-391) S308L [extracellular region]
F8(20-391) A303E [extracellular region]
factor VIIIa A3 C1 C2 polypeptide [extracellular region]
factor VIIIa A2 polypeptide [extracellular region]
factor VIIIa A1 polypeptide [extracellular region]
factor VIIIa B A3 acidic polypeptide [extracellular region]
factor VIII light chain [extracellular region]
factor VIII heavy chain [extracellular region]
factor VIIIa A1 polypeptide [plasma membrane]
factor VIIIa A3 C1 C2 polypeptide [plasma membrane]
factor VIIIa A2 polypeptide [plasma membrane]
Factor VIII precursor [endoplasmic reticulum-Golgi intermediate compartment membrane]
Factor VIII precursor [COPII-coated ER to Golgi transport vesicle]
Factor VIII precursor [endoplasmic reticulum lumen]
Modified Residues
Name
L-arginine 2169 replaced with L-histidine
Coordinate
2169
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
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
ZINC - Substances
ZINC target
PRO
PDB
HPA
GeneCards
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (1)
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