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F8 R612C [endoplasmic reticulum lumen]
Stable Identifier
R-HSA-9662023
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
FVIII R612C
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 VIII causes hemophilia A (Homo sapiens)
Defective F8 secretion (Homo sapiens)
F8 variant is not secreted (Homo sapiens)
Non-secretable F8 variant [endoplasmic reticulum lumen] (Homo sapiens)
F8 R612C [endoplasmic reticulum lumen] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
10691849
Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A
Peters, M
,
Timmermans, SM
,
De Laaf, RT
,
van Mourik, JA
,
Voorberg, J
,
Roelse, JC
Br. J. Haematol.
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_homo_sapiens_GENE: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_000132.3 F8
RefSeq:NM_019863.2 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: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
Non-secretable F8 variant [endoplasmic reticulum lumen] (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 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 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 612 replaced with L-cysteine
Coordinate
612
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
factor VIII deficiency
DOID:12134
Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
RefSeq
NP_063916.1
,
NP_000123.1
Guide to Pharmacology - Targets
2607
ClinGen
CA255129
OpenTargets
ENSG00000185010
ZINC - Substances
FA8_HUMAN
ZINC target
P00451
PRO
P00451
PDB
1CFG
,
4XZU
,
3HNB
,
4PT6
,
6MF2
,
1D7P
,
3HOB
,
1IQD
,
3J2S
,
1FAC
,
7K66
,
4BDV
,
6MF0
,
2R7E
,
7KBT
,
5K8D
,
3CDZ
,
8G6I
,
7KWO
,
3J2Q
,
8TY1
,
4KI5
,
3HNY
HPA
ENSG00000185010-F8
GeneCards
P00451
Ensembl
ENST00000360256
,
ENSP00000327895
,
ENSP00000353393
,
ENSG00000185010
,
ENST00000330287
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
20
VWF(23-763) [platelet alpha granule lumen]
(R-HSA-114662)
VWF Q1402P (764-2813) [extracellular region]
(R-HSA-9823711)
VWF S1394F (764-2813) [extracellular region]
(R-HSA-9823696)
VWF S1387I (764-2813) [extracellular region]
(R-HSA-9823697)
VWF S1358N (764-2813) [extracellular region]
(R-HSA-9823703)
VWF G1579R (764-1605) [extracellular region]
(R-HSA-9852786)
VWF C1099P (764-1605) [extracellular region]
(R-HSA-9852778)
VWF I1568N (764-1605) [extracellular region]
(R-HSA-9852790)
VWF G1631D (1606-2813) [extracellular region]
(R-HSA-9852788)
VWF Y1584C (764-1605) [extracellular region]
(R-HSA-9852765)
VWF I1568N (764-2813) [extracellular region]
(R-HSA-9844203)
VWF C1099P (764-2813) [extracellular region]
(R-HSA-9844221)
VWF G1631D (764-2813) [extracellular region]
(R-HSA-9844230)
VWF Y1584C (764-2813) [extracellular region]
(R-HSA-9844202)
VWF G1579R (764-2813) [extracellular region]
(R-HSA-9844214)
VWF (1606-2813) [extracellular region]
(R-HSA-9822534)
VWF(764-1605) [extracellular region]
(R-HSA-9822545)
VWF W1745C (764-2813) [extracellular region]
(R-HSA-9823611)
VWF H1786D (764-2813) [extracellular region]
(R-HSA-9823634)
VWF S1783A (764-2813) [extracellular region]
(R-HSA-9823588)
0.623
2
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