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F8 M633I [endoplasmic reticulum lumen]
Stable Identifier
R-HSA-9661975
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
FVIII M633I
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 M633I [endoplasmic reticulum lumen] (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 F8
HGNC:3546 F8
KEGG:hsa:2157 F8
Monarch:2157 F8
NCBI Gene:2157 F8
OMIM:300841 F8
UCSC:P00451 F8
Reference Transcript
RefSeq:NM_019863.3 F8
RefSeq:NM_000132.4 F8
Participates
as a candidate of
Non-secretable F8 variant [endoplasmic reticulum lumen] (Homo sapiens)
Other forms of this molecule
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 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]
Coagulation factor VIII precursor [platelet alpha granule lumen]
Factor VIII precursor [extracellular region]
factor VIIIa A2 polypeptide [plasma membrane]
factor VIIIa A3 C1 C2 polypeptide [plasma membrane]
factor VIIIa A1 polypeptide [plasma membrane]
factor VIII heavy chain [extracellular region]
factor VIII light chain [extracellular region]
factor VIIIa a3 acidic polypeptide [extracellular region]
F8(20-391) [extracellular region]
FVIII (392-759) [extracellular region]
F8(1709-2351) [extracellular region]
factor VIIIa B chain [extracellular region]
Factor VIII precursor [endoplasmic reticulum lumen]
Factor VIII precursor [COPII-coated ER to Golgi transport vesicle]
Factor VIII precursor [endoplasmic reticulum-Golgi intermediate compartment membrane]
F8(20-391) A303E [extracellular region]
F8(20-391) S308L [extracellular region]
F8(392-759) R550C [extracellular region]
F8(392-759) R717W [extracellular region]
F8(392-759) R717L [extracellular region]
F8(392-759) R550H [extracellular region]
F8(392-759) R550G [extracellular region]
F8(392-759) N713I [extracellular region]
F8(356-372) [extracellular region]
F8(582-640) [extracellular region]
F8(20-355) [extracellular region]
F8(373-581) [extracellular region]
F8 Y1699F [Golgi lumen]
Factor VIII precursor [Golgi lumen]
OSulf-6Y-FVIII precursor [Golgi lumen]
Modified Residues
Name
L-methionine 633 replaced with L-isoleucine
Coordinate
633
PsiMod
L-methionine removal [MOD:01643]
A protein modification that effectively removes or replaces an L-methionine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name
Identifier
Synonyms
factor VIII deficiency
DOID:12134
Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
RefSeq
NP_000123.1
,
NP_063916.1
Guide to Pharmacology - Targets
2607
OpenTargets
ENSG00000185010
ENSEMBL
ENST00000330287
,
ENSP00000327895
,
ENST00000360256
,
ENSP00000353393
,
ENSG00000185010
ZINC - Substances
FA8_HUMAN
ZINC target
P00451
PRO
P00451
GlyGen
P00451
PDB
4PT6
,
4XZU
,
1FAC
,
7KBT
,
9D5D
,
8TY1
,
7KWO
,
3J2S
,
3J2Q
,
3CDZ
,
1D7P
,
2R7E
,
1IQD
,
7K66
,
8G6I
,
3HOB
,
4KI5
,
3HNB
,
1CFG
,
5K8D
,
6MF2
,
6MF0
,
4BDV
,
3HNY
GeneCards
F8
HPA
ENSG00000185010-F8
Pharos - Targets
P00451
Orphanet
F8
ZINC - Predictions - Purchasable
FA8_HUMAN
HMDB Protein
HMDBP01727
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P04275 VWF
20
VWF(23-763) [extracellular region]
(R-HSA-67271)
VWF(23-763) [platelet alpha granule lumen]
(R-HSA-114662)
VWF(764-2813) [extracellular region]
(R-HSA-158327)
VWF L1733P (764-2813) [extracellular region]
(R-HSA-9824345)
VWF S1731L (764-2813) [extracellular region]
(R-HSA-9823681)
VWF K1794E (764-2813) [extracellular region]
(R-HSA-9823657)
VWF S1731T (764-2813) [extracellular region]
(R-HSA-9823615)
VWF S1783A (764-2813) [extracellular region]
(R-HSA-9823588)
VWF H1786D (764-2813) [extracellular region]
(R-HSA-9823634)
VWF W1745C (764-2813) [extracellular region]
(R-HSA-9823611)
VWF(764-1605) [extracellular region]
(R-HSA-9822545)
VWF (1606-2813) [extracellular region]
(R-HSA-9822534)
VWF G1579R (764-2813) [extracellular region]
(R-HSA-9844214)
VWF Y1584C (764-2813) [extracellular region]
(R-HSA-9844202)
VWF G1631D (764-2813) [extracellular region]
(R-HSA-9844230)
VWF C1099P (764-2813) [extracellular region]
(R-HSA-9844221)
VWF I1568N (764-2813) [extracellular region]
(R-HSA-9844203)
VWF Y1584C (764-1605) [extracellular region]
(R-HSA-9852765)
VWF G1631D (1606-2813) [extracellular region]
(R-HSA-9852788)
VWF I1568N (764-1605) [extracellular region]
(R-HSA-9852790)
0.623
2
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