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factor VIIIa A3 C1 C2 polypeptide [plasma membrane]
Stable Identifier
R-HSA-158388
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
F8(1709-2351)
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) (Homo sapiens)
Defective factor IX causes hemophilia B (Homo sapiens)
Defective F9 variant does not activate FX (Homo sapiens)
FIXa variant:FVIIIa does not convert FX to the active FXa (Homo sapiens)
factor VIIIa:factor IXa variant [plasma membrane] (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
Defective factor IX causes thrombophilia (Homo sapiens)
Hyperactivation of factor X by FVIIIa:FIXa R384L (Homo sapiens)
FVIIIa:FIXa R384L [plasma membrane] (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
Defective factor VIII causes hemophilia A (Homo sapiens)
Defective cofactor function of FVIIIa variant (Homo sapiens)
FVIIIa variant:FIXa does not convert FX to the active FXa (Homo sapiens)
FVIIIa variant:FIXa [plasma membrane] (Homo sapiens)
factor VIIIa variant [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
Hemostasis (Homo sapiens)
Formation of Fibrin Clot (Clotting Cascade) (Homo sapiens)
Intrinsic Pathway of Fibrin Clot Formation (Homo sapiens)
factor VIIIa + factor IXa -> factor VIIIa:factor IXa (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
factor VIIIa:factor IXa [plasma membrane] (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
factor VIIIa associates with cell membrane (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
factor X -> factor Xa + factor X activation peptide (VIIIa:IXa catalyst) (Homo sapiens)
FVIIIa:FIXa:PROS1 [plasma membrane] (Homo sapiens)
factor VIIIa:factor IXa [plasma membrane] (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
factor VIIIa:factor IXa [plasma membrane] (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane] (Homo sapiens)
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:ENSG00000185010.15 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
RefSeq:NM_019863.2 F8
RefSeq:NM_000132.3 F8
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:0050878
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 component of
factor VIIIa variant [plasma membrane] (Homo sapiens)
factor VIIIa [plasma membrane] (Homo sapiens)
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 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]
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 VIII precursor [endoplasmic reticulum-Golgi intermediate compartment membrane]
Factor VIII precursor [COPII-coated ER to Golgi transport vesicle]
Factor VIII precursor [endoplasmic reticulum lumen]
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 A2 polypeptide [plasma membrane]
Inferred To
factor VIIIa A3 C1 C2 polypeptide [plasma membrane]
(Danio rerio)
factor VIIIa A3 C1 C2 polypeptide [plasma membrane]
(Gallus gallus)
F8 [plasma membrane]
(Bos taurus)
F8 [plasma membrane]
(Mus musculus)
F8 [plasma membrane]
(Rattus norvegicus)
Cross References
RefSeq
NP_000123.1
,
NP_063916.1
Guide to Pharmacology - Targets
2607
OpenTargets
ENSG00000185010
ZINC - Substances
FA8_HUMAN
ZINC target
P00451
PRO
P00451
PDB
6MF0
,
3CDZ
,
4BDV
,
3J2Q
,
1D7P
,
7KWO
,
7KBT
,
1CFG
,
3HOB
,
4XZU
,
1IQD
,
6MF2
,
1FAC
,
3J2S
,
3HNB
,
4KI5
,
7K66
,
3HNY
,
5K8D
,
4PT6
,
2R7E
GeneCards
P00451
HPA
ENSG00000185010-F8
Ensembl
ENST00000330287
,
ENSP00000327895
,
ENSP00000353393
,
ENST00000360256
,
ENSG00000185010
Pharos - Targets
P00451
Orphanet
16016
ZINC - Predictions - Purchasable
FA8_HUMAN
HMDB Protein
HMDBP01727
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P04275 VWF
3
VWF(23-763) [platelet alpha granule lumen]
(R-HSA-114662)
VWF(764-2813) [extracellular region]
(R-HSA-158327)
VWF(23-763) [extracellular region]
(R-HSA-67271)
0.623
2
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