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F8

GENERAL INFORMATION

Gene name

 F8

Gene description

 Coagulation factor VIII, procoagulant component

Protein class

 Candidate cardiovascular disease genes
Disease related genes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Extracellular deposits and cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.

Reliability score

 Supported based on 1 antibody.
CAB018777
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 F8 (HGNC Symbol)

Synonyms

 DXS1253E, F8C, FVIII, HEMA

Description

 Coagulation factor VIII, procoagulant component (HGNC Symbol)

Entrez gene summary

 This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]

Chromosome

 X

Cytoband

 q28

Chromosome location (bp)

 154835788 - 155026940

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000185010 (version 83.38)

Entrez gene

 2157

UniProt

 P00451 (UniProt - Evidence at protein level)

neXtProt

 NX_P00451

Antibodypedia

 F8 antibodies

PROTEIN BROWSER
F8-001
F8-003
F8-004
F8-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
F8-001
ENSP00000353393
ENST00000360256
P00451 [Direct mapping]
Coagulation factor VIII Factor VIIIa heavy chain, 200 kDa isoform Factor VIIIa heavy chain, 92 kDa isoform Factor VIII B chain Factor VIIIa light chain
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   MEMSAT-SVM predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Candidate cardiovascular disease genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0002576 [platelet degranulation]
GO:0005507 [copper ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005886 [plasma membrane]
GO:0006888 [ER to Golgi vesicle-mediated transport]
GO:0006953 [acute-phase response]
GO:0007596 [blood coagulation]
GO:0007597 [blood coagulation, intrinsic pathway]
GO:0016491 [oxidoreductase activity]
GO:0018279 [protein N-linked glycosylation via asparagine]
GO:0030134 [ER to Golgi transport vesicle]
GO:0030168 [platelet activation]
GO:0031093 [platelet alpha granule lumen]
GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0048208 [COPII vesicle coating]
GO:0055114 [oxidation-reduction process]
GO:0061024 [membrane organization]
Show all
 2351 aa
267 kDa 		Yes 0
F8-003
ENSP00000327895
ENST00000330287
P00451 [Direct mapping]
Coagulation factor VIII Factor VIIIa heavy chain, 200 kDa isoform Factor VIIIa heavy chain, 92 kDa isoform Factor VIII B chain Factor VIIIa light chain
Show all
Predicted intracellular proteins
Plasma proteins
Candidate cardiovascular disease genes
Disease related genes
FDA approved drug targets
   Biotech drugs
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0002576 [platelet degranulation]
GO:0005507 [copper ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005886 [plasma membrane]
GO:0006888 [ER to Golgi vesicle-mediated transport]
GO:0006953 [acute-phase response]
GO:0007596 [blood coagulation]
GO:0007597 [blood coagulation, intrinsic pathway]
GO:0016491 [oxidoreductase activity]
GO:0018279 [protein N-linked glycosylation via asparagine]
GO:0030134 [ER to Golgi transport vesicle]
GO:0030168 [platelet activation]
GO:0031093 [platelet alpha granule lumen]
GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0048208 [COPII vesicle coating]
GO:0055114 [oxidation-reduction process]
GO:0061024 [membrane organization]
Show all
 216 aa
24.6 kDa 		No 0
F8-004
ENSP00000409446
ENST00000423959
B1B0G8 [Direct mapping]
Coagulation factor VIII
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005507 [copper ion binding]
GO:0030168 [platelet activation]
Show all
 222 aa
25 kDa 		No 0
F8-005
ENSP00000389153
ENST00000453950
B1B0G9 [Direct mapping]
Coagulation factor VIII
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005507 [copper ion binding]
GO:0030168 [platelet activation]
Show all
 165 aa
18.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.