Reactome | F8 N1941D [endoplasmic reticulum lumen]

F8 N1941D [endoplasmic reticulum lumen]

Stable Identifier

R-HSA-9662042

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen

Synonyms

FVIII N1941D

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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 secretion (Homo sapiens)
        
        F8 variant is not secreted (Homo sapiens)
        
        Non-secretable F8 variant [endoplasmic reticulum lumen] (Homo sapiens)
        
        F8 N1941D [endoplasmic reticulum lumen] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
1908096	Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene Antonarakis, SE, Kasch, L, Kazazian, HH, Higuchi, M, Janco, R, Kasper, C, McGinniss, MJ, Phillips, JA, Warren, TC	Proc. Natl. Acad. Sci. U.S.A.	1991

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_homo_sapiens_GENE: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 candidate of

Non-secretable F8 variant [endoplasmic reticulum lumen] (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 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]

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-asparagine 1941 replaced with L-aspartic acid

Coordinate

1941

PsiMod

L-aspartic acid residue [MOD:00013]

A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.

L-asparagine removal [MOD:01633]

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

Disease

Name	Identifier	Synonyms
factor VIII deficiency	DOID:12134	Congenital factor VIII disorder, Subhemophilia, Hemophilia A

Cross References

RefSeq

NP_063916.1, NP_000123.1

Guide to Pharmacology - Targets

2607

ClinGen

CA255033

OpenTargets

ENSG00000185010

ZINC - Substances

FA8_HUMAN

ZINC target

P00451

PRO

P00451

PDB

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

HPA

ENSG00000185010-F8

GeneCards

P00451

Ensembl

ENST00000360256, ENSP00000327895, ENSP00000353393, ENSG00000185010, ENST00000330287

Pharos - Targets

P00451

Orphanet

16016

ZINC - Predictions - Purchasable

FA8_HUMAN

HMDB Protein

HMDBP01727

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P04275 VWF	20	VWF(23-763) [platelet alpha granule lumen] (R-HSA-114662) VWF Q1402P (764-2813) [extracellular region] (R-HSA-9823711) VWF S1394F (764-2813) [extracellular region] (R-HSA-9823696) VWF S1387I (764-2813) [extracellular region] (R-HSA-9823697) VWF S1358N (764-2813) [extracellular region] (R-HSA-9823703) VWF G1579R (764-1605) [extracellular region] (R-HSA-9852786) VWF C1099P (764-1605) [extracellular region] (R-HSA-9852778) VWF I1568N (764-1605) [extracellular region] (R-HSA-9852790) VWF G1631D (1606-2813) [extracellular region] (R-HSA-9852788) VWF Y1584C (764-1605) [extracellular region] (R-HSA-9852765) VWF I1568N (764-2813) [extracellular region] (R-HSA-9844203) VWF C1099P (764-2813) [extracellular region] (R-HSA-9844221) VWF G1631D (764-2813) [extracellular region] (R-HSA-9844230) VWF Y1584C (764-2813) [extracellular region] (R-HSA-9844202) VWF G1579R (764-2813) [extracellular region] (R-HSA-9844214) VWF (1606-2813) [extracellular region] (R-HSA-9822534) VWF(764-1605) [extracellular region] (R-HSA-9822545) VWF W1745C (764-2813) [extracellular region] (R-HSA-9823611) VWF H1786D (764-2813) [extracellular region] (R-HSA-9823634) VWF S1783A (764-2813) [extracellular region] (R-HSA-9823588)	0.623	2

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