F7 coagulation factor VII (serum prothrombin conversion accelerator) [Homo sapiens] - Gene

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Summary

Official Symbol: F7provided by HGNC
Official Full Name: coagulation factor VII (serum prothrombin conversion accelerator)provided by HGNC
Primary source: HGNC:3544
See related: Ensembl:ENSG00000057593; HPRD:01965; MIM:613878; Vega:OTTHUMG00000017373
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Alternative splicing of this gene results in 2 transcripts. Defects in this gene can cause coagulopathy. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 13q34

Sequence :: Chromosome: 13; NC_000013.10 (113760105..113774995)

See F7 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Preliminary findings revealed a possible contribution of the FVII -402GA polymorphism in the development of breast cancer.
Title: Association between the -402GA, -401GT, and -323ins10-bp polymorphisms of factor VII gene and breast cancer.
We here present the first characterization of a patient with severe FX deficiency due to the novel mutation c.162_165delAAGA and a co-existent large deletion involving both FVII and FX genes.
Title: Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes.
Extrahepatic synthesis of FVII by colorectal cancer cells may promote tumor invasion and metastasis.
Title: Extrahepatic synthesis of coagulation factor VII by colorectal cancer cells promotes tumor invasion and metastasis.
rFVIIa-25C remained biochemically stable and aseptic during 24-hour continuous infusion in vitro at 19.3 degrees C to 20.7 degrees C, with no clinically significant changes in clot activity, solution constituents, or concentrations.
Title: Room-temperature-stable recombinant activated coagulation factor VII recombinant: chemical and microbiologic stability over 24 hours during continuous in vitro infusion.
The increase in FSAP is comparable in the seven OC-groups studied but is more significant in women carrying the 1601GG genotype than in women with the 1601GA genotype and results in increased activation of FVII
Title: Plasma factor VII-activating protease is increased by oral contraceptives and induces factor VII activation in-vivo.
Data suggest that antithrombin appears to play an active role in factor VIIa inhibition during cardiac surgery.
Title: Factor VIIa-Antithrombin complexes during cardiac surgery using cardiopulmonary bypass.
Report pharmacokinetics, distribution, and excretion of 125I-labeled human plasma-derived-FVIIa and -FX with MC710 (FVIIa/FX mixture) in rats.
Title: Pharmacokinetics, distribution, and excretion of 125I-labeled human plasma-derived-FVIIa and -FX with MC710 (FVIIa/FX mixture) in rats.
Arg304Trp mutation in factor VII Padua (FVII Padua) showed discrepant activity levels that depend on the thromboplastin used in the assay system similar to the activity shown by the Arg304Gln mutation
Title: Similarities and discrepancies in homozygous factor VII defects due to mutations in the region of residues Met298 to Cys310 (exon 8) in the catalytic domain of factor VII.
The results made it possible to assume that the F7 and THBD genes play an important role in genetic predisposition to unfavorable outcomes in patients with a history of acute ischemic heart disease.
Title: [Polymorphic markers Ala455Val of the THBD gene and Arg353Gln of the F7 gene and association with unfavorable outcomes of coronary atherosclerosis in patients with a history of acute ischemic heart disease].
Prophylactic use of a recombinant activated factor VII in delivery haemorrhage by caesarean in a woman with major factor VII deficiency.
Title: [Prophylactic use of a recombinant activated factor VII in delivery haemorrhage by caesarean in a woman with major factor VII deficiency: a case report].

Submit: New GeneRIF Correction See all (215)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.

Myocardial infarction, decreased susceptibility to

MIM: 608446

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Products	Interactant	Other Gene	Source	Pubs	Description
P08709	P02768	ALB	HPRD	PubMed
P08709	P00742	F10	HPRD	PubMed
P08709	P13726	F3	HPRD	PubMed
P08709	P08709	F7	HPRD	PubMed
P08709	P00740	F9	HPRD	PubMed
P08709	P38435	GGCX	HPRD	PubMed
P08709	P05981	HPN	HPRD	PubMed
BioGRID:108453	BioGRID:108102	DMWD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108453	BioGRID:108457	F10	BioGRID	PubMed	Biochemical Activity
BioGRID:108453	BioGRID:108451	F3	BioGRID	PubMed	Co-crystal Structure; Reconstituted Complex
BioGRID:108453	BioGRID:119697	UIMC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108453	BioGRID:117382	USP49	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
glycoprotein binding	IPI Inferred from Physical Interaction more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info
receptor binding	IEA Inferred from Electronic Annotation more info
serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
anti-apoptosis	TAS Traceable Author Statement more info	PubMed
blood coagulation	TAS Traceable Author Statement more info
blood coagulation, extrinsic pathway	TAS Traceable Author Statement more info
cellular protein metabolic process	TAS Traceable Author Statement more info
circadian rhythm	IEA Inferred from Electronic Annotation more info
organ regeneration	IEA Inferred from Electronic Annotation more info
peptidyl-glutamic acid carboxylation	TAS Traceable Author Statement more info
positive regulation of blood coagulation	IEA Inferred from Electronic Annotation more info
positive regulation of cell migration	TAS Traceable Author Statement more info	PubMed
positive regulation of leukocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of positive chemotaxis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein kinase B signaling cascade	IDA Inferred from Direct Assay more info	PubMed
post-translational protein modification	TAS Traceable Author Statement more info
proteolysis	TAS Traceable Author Statement more info
response to estrogen stimulus	IEA Inferred from Electronic Annotation more info
response to growth hormone stimulus	IEA Inferred from Electronic Annotation more info
response to hormone stimulus	IEA Inferred from Electronic Annotation more info
response to nutrient levels	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
response to vitamin K	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi lumen	TAS Traceable Author Statement more info
endoplasmic reticulum lumen	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
vesicular fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: coagulation factor VII

Names: coagulation factor VII; SPCA; eptacog alfa; proconvertin; FVII coagulation protein; serum prothrombin conversion accelerator

NP_000122.1

EC 3.4.21.21

NP_062562.1

EC 3.4.21.21

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009262.1 RefSeqGene

Range

5001..19891

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000131.3 → NP_000122.1 coagulation factor VII isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains an optional exon (exon 1b) and thus encodes a longer signal peptide than the predominant transcript variant 2. The mature peptide products encoded by the two transcript variants are identical.

Source sequence(s)

AF272774, AI076552, AL137002, CB156039, DB184045, M13232

Consensus CDS

CCDS9528.1

UniProtKB/Swiss-Prot

P08709

Related

ENSP00000364731, OTTHUMP00000018733, ENST00000375581, OTTHUMT00000045838

Conserved Domains (4) summary

cd00054
Location:106 – 142
Blast Score: 114

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00190
Location:213 – 449
Blast Score: 557

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

cl02449
Location:42 – 104
Blast Score: 251

Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

cl09941
Location:151 – 187
Blast Score: 82

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_019616.2 → NP_062562.1 coagulation factor VII isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) is the predominant form in normal liver. It does not include exon 1b and thus encodes a shorter signal peptide; the mature peptide products encoded by the two transcript variants are identical.

Source sequence(s)

AF272774, AI076552, AL137002, CB156039, DB184045, M13232

Consensus CDS

CCDS9529.1

UniProtKB/Swiss-Prot

P08709

Related

ENSP00000329546, OTTHUMP00000018734, ENST00000346342, OTTHUMT00000045839

Conserved Domains (4) summary

cd00054
Location:84 – 120
Blast Score: 113

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00190
Location:191 – 427
Blast Score: 558

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

cl02449
Location:21 – 82
Blast Score: 247

Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

cl09941
Location:129 – 165
Blast Score: 81

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

113760105..113774995

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

94198537..94213700

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF466933.2	AAL66184.1
genomic	AL137002.19	CAI41381.1
		CAI41382.1
genomic	AY212252.1	AAP33841.1
genomic	CH471085.1	EAX09182.1
		EAX09183.1
genomic	CS355169.1	CAL24227.1
genomic	DQ142911.1	ABD17891.1
genomic	EF445049.1	ACA06107.1
		ACA06108.1
genomic	J02933.1	AAA51983.1
genomic	U14580.1	AAC50211.2
genomic	U40852.1	None
mRNA	AI076552.1	None
mRNA	AK298404.1	BAG60634.1
mRNA	AK310779.1	None
mRNA	AK311565.1	None
mRNA	AK311682.1	None
mRNA	AY423856.1	AAQ94106.1
mRNA	BC130468.1	AAI30469.1
mRNA	CB156039.1	None
mRNA	DB184045.1	None
mRNA	EF421855.1	ABN79862.1
mRNA	EU557239.1	ACB87203.1
mRNA	M13232.1	AAA88040.1
		AAA88041.1
other-genetic	HQ258414.1	ADR83168.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P08709.1	GenPept	UniProtKB/Swiss-Prot:P08709
Q6TDG2	GenPept	UniProtKB/TrEMBL:Q6TDG2
Q9UMU6	GenPept	UniProtKB/TrEMBL:Q9UMU6