Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
F8(392-759) R717W [extracellular region]
Stable Identifier
R-HSA-9670048
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
FVIIIa R717W A2 polypeptide , F8 R717W A2 polypeptide
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 accelerates dissociation of the A2 domain (Homo sapiens)
Defects in F8 A2 domain accelerate dissociation of the A2 domain (Homo sapiens)
F8(392-759) A2 domain variant [extracellular region] (Homo sapiens)
F8(392-759) R717W [extracellular region] (Homo sapiens)
factor VIIIa with defective A2 domain [extracellular region] (Homo sapiens)
F8(392-759) A2 domain variant [extracellular region] (Homo sapiens)
F8(392-759) R717W [extracellular region] (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_019863.2 F8
RefSeq:NM_000132.3 F8
Participates
as a member of
F8(392-759) A2 domain variant [extracellular region] (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 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]
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]
Coagulation factor VIII precursor [platelet alpha granule lumen]
Factor VIII precursor [extracellular region]
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) 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-arginine 717 replaced with L-tryptophan
Coordinate
717
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
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
2607
ClinGen
CA255137
OpenTargets
ENSG00000185010
ENSEMBL
ENSP00000353393
,
ENSG00000185010
,
ENST00000330287
,
ENST00000360256
,
ENSP00000327895
ZINC - Substances
FA8_HUMAN
ZINC target
P00451
PRO
P00451
GlyGen
P00451
PDB
7KWO
,
6MF0
,
3HNY
,
4BDV
,
5K8D
,
1CFG
,
4KI5
,
1FAC
,
3HNB
,
6MF2
,
3HOB
,
8G6I
,
1IQD
,
1D7P
,
2R7E
,
3CDZ
,
7K66
,
3J2Q
,
3J2S
,
7KBT
,
8TY1
,
9D5D
,
4XZU
,
4PT6
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(764-2813) [extracellular region]
(R-HSA-158327)
VWF(23-763) [platelet alpha granule lumen]
(R-HSA-114662)
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
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text
![F8(392-759) R717W [extracellular region] icon](/icon/R-ICO-014166.svg){kind=icon}
