Reactome | F8 R391C [extracellular region]

F8 R391C [extracellular region]

Stable Identifier

R-HSA-9667124

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

FVIII R391C

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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 cleavage by thrombin (Homo sapiens)
        
        F8 variant is not cleaved by thrombin (Homo sapiens)
        
        FVIII variant:vWF multimer [extracellular region] (Homo sapiens)
        
        F8 thrombin cleavage site variant [extracellular region] (Homo sapiens)
        
        F8 heavy chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
        
        F8 heavy chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
        
        F8 R391C [extracellular region] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
1973901	CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site Pattinson, JK, McVey, JH, Boon, M, Ajani, A, Tuddenham, EG	Br. J. Haematol.	1990
2109644	Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A O'Brien, DP, Pattinson, JK, Tuddenham, EG	Blood	1990

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

Participates

as a member of

F8 heavy chain thrombin cleavage site variants [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 R391H [extracellular region]

F8 S392L [extracellular region]

F8 Y365C [extracellular region]

F8(392-759) [plasma membrane]

F8(1709-2351) [plasma membrane]

F8(20-391) [plasma membrane]

F8(20-1332) [extracellular region]

F8(1668-2351) [extracellular region]

F8(1668-1708) [extracellular region]

F8(20-391) [extracellular region]

F8(392-759) [extracellular region]

F8(1709-2351) [extracellular region]

F8(760-1332) [extracellular region]

F8 precursor [endoplasmic reticulum lumen]

Coagulation factor VIII precursor [platelet alpha granule lumen]

F8 precursor [extracellular region]

F8 precursor [COPII-coated ER to Golgi transport vesicle]

F8 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]

F8 precursor [Golgi lumen]

OSulf-6Y-F8 precursor [Golgi lumen]

Modified Residues

Name

L-arginine 391 replaced with L-cysteine

Coordinate

391

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_000123.1, NP_063916.1

Guide to Pharmacology - Targets

2607

ClinGen

CA255026

OpenTargets

ENSG00000185010

ENSEMBL

ENSP00000353393, ENST00000360256, ENST00000330287, ENSG00000185010, ENSP00000327895

Mondo

0010602

ZINC - Substances

FA8_HUMAN

ZINC target

P00451

PRO

P00451

GlyGen

P00451

PDB

1FAC, 7KBT, 1CFG, 4KI5, 7K66, 3J2S, 3CDZ, 1D7P, 2R7E, 5K8D, 3J2Q, 1IQD, 9D5D, 8TY1, 4PT6, 7KWO, 4XZU, 3HNY, 8G6I, 6MF0, 4BDV, 6MF2, 3HNB, 3HOB

GeneCards

HPA

ENSG00000185010-F8

Pharos - Targets

P00451

Orphanet

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

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