Reactome | F8 S2192I [extracellular region]

F8 S2192I [extracellular region]

Stable Identifier

R-HSA-9668157

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

FVIII S2192I

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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 binding to von Willebrand factor (Homo sapiens)
        
        F8 variant does not bind von Willebrand factor (Homo sapiens)
        
        F8 C1,C2 domains variants [extracellular region] (Homo sapiens)
        
        FVIII C1, C2 domain variants [extracellular region] (Homo sapiens)
        
        F8 S2192I [extracellular region] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
10910913	Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure Fujikawa, K, Nakaya, S, Pratt, KP, Davie, EW, Stoddard, BL, Shen, BW, Thompson, AR, Liu, ML	Blood	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

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 candidate of

FVIII C1, C2 domain 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 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) 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-serine 2192 replaced with L-isoleucine

Coordinate

2192

PsiMod

L-serine removal [MOD:01646]

A protein modification that effectively removes or replaces an L-serine.

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

Guide to Pharmacology - Targets

2607

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

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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