Reactome | F8 R1708C [extracellular region]

F8 R1708C [extracellular region]

Stable Identifier

R-HSA-9666388

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

FVIII R1708C

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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 light chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
        
        F8 light chain thrombin cleavage site variants [extracellular region] (Homo sapiens)
        
        F8 R1708C [extracellular region] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
2104766	Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A Antonarakis, SE, Janco, RL, Kazazian, HH, Higuchi, M, Hoyer, LW, Arai, M, Phillips, JA	Blood	1990
2499363	Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A Tuddenham, EG, O'Brien, DP	Blood	1989

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: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

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

F8 light chain thrombin cleavage site variants [extracellular region] (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 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 1708 replaced with L-cysteine

Coordinate

1708

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

CA120919

OpenTargets

ENSG00000185010

ZINC - Substances

FA8_HUMAN

ZINC target

P00451

PRO

P00451

PDB

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

HPA

ENSG00000185010-F8

GeneCards

P00451

Ensembl

ENSP00000353393, ENSP00000327895, ENST00000330287, ENSG00000185010, ENST00000360256

Pharos - Targets

P00451

ZINC - Predictions - Purchasable

FA8_HUMAN

Orphanet

16016

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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