F8 R2326L [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9661995
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII R2326L
F8 R2326L [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
8810344 Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins

Kaufman, RJ, Pipe, SW

J. Biol. Chem. 1996
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
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
Other forms of this molecule
Modified Residues
Name
L-arginine 2326 replaced with L-leucine
Coordinate
2326
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-leucine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ZINC - Substances
ZINC target
PRO
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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