F7 coagulation factor VII [Homo sapiens (human)] - Gene

Summary

Official Symbol: F7provided by HGNC
Official Full Name: coagulation factor VIIprovided by HGNC
Primary source: HGNC:HGNC:3544
See related: Ensembl:ENSG00000057593 MIM:613878; AllianceGenome:HGNC:3544
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
Also known as: SPCA
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. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
Expression: Restricted expression toward liver (RPKM 23.8) See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (113105788..113120685)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (112357141..112372343)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (113760102..113774999)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].
Title: [Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].
[Congenital F Deficiency Associated with a Novel Mutation in F7 Gene].
Title: [Congenital FⅦ Deficiency Associated with a Novel Mutation in F7 Gene].
Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.
Title: Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.
Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.
Title: Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
Title: Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
Factor VII deficiency: A cause of (or risk factor for) bleeding?
Title: Factor VII deficiency: A cause of (or risk factor for) bleeding?
Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients.
Title: Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients.
Phenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII.
Title: Phenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII.
Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency.
Title: Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency.
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding.
Title: Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding.

Submit: New GeneRIF Correction See all GeneRIFs (325)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital factor VII deficiency MedGen: C0272320 OMIM: 227500 GeneReviews: Not available	not available
Myocardial infarction, susceptibility to MedGen: C1832662 OMIM: 608446 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Ischemic stroke is associated with the ABO locus: the EuroCLOT study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:210952 (e-PCR)
- UniSTS:156162

ECD13118 (e-PCR)
- UniSTS:294149

ECD07207 (e-PCR)
- UniSTS:288264

ECD21117 (e-PCR)
- UniSTS:302114

ECD03899 (e-PCR)
- UniSTS:284979

ECD04171 (e-PCR)
- UniSTS:285249

RH44950 (e-PCR)
- UniSTS:38478

ECD04454 (e-PCR)
- UniSTS:285526

G15852 (e-PCR)
- UniSTS:33878

ECD03938 (e-PCR)
- UniSTS:285018

ECD13753 (e-PCR)
- UniSTS:294779

ECD23297 (e-PCR)
- UniSTS:304281

REN18399 (e-PCR)
- UniSTS:343199

REN18400 (e-PCR)
- UniSTS:343200

ECD13274 (e-PCR)
- UniSTS:294304

REN18401 (e-PCR)
- UniSTS:343201

REN18402 (e-PCR)
- UniSTS:343202

REN18403 (e-PCR)
- UniSTS:343203

REN18404 (e-PCR)
- UniSTS:343204

REN18405 (e-PCR)
- UniSTS:343205

REN18406 (e-PCR)
- UniSTS:343206

REN18407 (e-PCR)
- UniSTS:343207

REN18408 (e-PCR)
- UniSTS:343208

REN18409 (e-PCR)
- UniSTS:343209

REN18410 (e-PCR)
- UniSTS:343210

REN18411 (e-PCR)
- UniSTS:343211

REN18412 (e-PCR)
- UniSTS:343212

REN18413 (e-PCR)
- UniSTS:343213

ECD03249 (e-PCR)
- UniSTS:284334

GDB:181603 (e-PCR)
- UniSTS:155310

REN18415 (e-PCR)
- UniSTS:343215

REN18416 (e-PCR)
- UniSTS:343216

REN18417 (e-PCR)
- UniSTS:343217

REN18418 (e-PCR)
- UniSTS:343218

REN18419 (e-PCR)
- UniSTS:343219

REN18420 (e-PCR)
- UniSTS:343220

REN18421 (e-PCR)
- UniSTS:343221

REN18423 (e-PCR)
- UniSTS:343223

REN18424 (e-PCR)
- UniSTS:343224

REN18425 (e-PCR)
- UniSTS:343225

REN18426 (e-PCR)
- UniSTS:343226

REN18427 (e-PCR)
- UniSTS:343227

REN18428 (e-PCR)
- UniSTS:343228

REN18429 (e-PCR)
- UniSTS:343229

REN18430 (e-PCR)
- UniSTS:343230

REN18431 (e-PCR)
- UniSTS:343231

REN18432 (e-PCR)
- UniSTS:343232

PMC196491P1 (e-PCR)
- UniSTS:271809

REN18433 (e-PCR)
- UniSTS:343233

REN18434 (e-PCR)
- UniSTS:343234

REN18435 (e-PCR)
- UniSTS:343235

REN18436 (e-PCR)
- UniSTS:343236

REN18437 (e-PCR)
- UniSTS:343237

REN18438 (e-PCR)
- UniSTS:343238

REN18439 (e-PCR)
- UniSTS:343239

REN18440 (e-PCR)
- UniSTS:343240

REN18441 (e-PCR)
- UniSTS:343241

REN18442 (e-PCR)
- UniSTS:343242

GDB:196470 (e-PCR)
- UniSTS:155852

REN18445 (e-PCR)
- UniSTS:343245

REN18446 (e-PCR)
- UniSTS:343246

REN18447 (e-PCR)
- UniSTS:343247

REN18448 (e-PCR)
- UniSTS:343248

REN18449 (e-PCR)
- UniSTS:343249

ECD13839 (e-PCR)
- UniSTS:294865

REN18450 (e-PCR)
- UniSTS:343250

REN18451 (e-PCR)
- UniSTS:343251

NoName (e-PCR)
- UniSTS:482003

REN18452 (e-PCR)
- UniSTS:343252

REN18453 (e-PCR)
- UniSTS:343253

REN18454 (e-PCR)
- UniSTS:343254

REN18455 (e-PCR)
- UniSTS:343255

REN18456 (e-PCR)
- UniSTS:343256

REN18457 (e-PCR)
- UniSTS:343257

REN18458 (e-PCR)
- UniSTS:343258

F7_624 (e-PCR)
- UniSTS:277223

F7_V29 (e-PCR)
- UniSTS:277223

GDB:180725 (e-PCR)
- UniSTS:155111

GDB:182330 (e-PCR)
- UniSTS:155368

stSG621985 (e-PCR)
- UniSTS:454643

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in blood coagulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation	IDA Inferred from Direct Assay more info	PubMed
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of TOR signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of leukocyte chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of leukocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of positive chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in response to 2,3,7,8-tetrachlorodibenzodioxine	IEA Inferred from Electronic Annotation more info
involved_in response to Thyroid stimulating hormone	IEA Inferred from Electronic Annotation more info
involved_in response to astaxanthin	IEA Inferred from Electronic Annotation more info
involved_in response to carbon dioxide	IEA Inferred from Electronic Annotation more info
involved_in response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to genistein	IEA Inferred from Electronic Annotation more info
involved_in response to growth hormone	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to thyrotropin-releasing hormone	IEA Inferred from Electronic Annotation more info
involved_in response to thyroxine	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin K	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of serine-type peptidase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: coagulation factor VII

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

NP_000122.1

EC 3.4.21.21

NP_001254483.1

EC 3.4.21.21

NP_062562.1

EC 3.4.21.21

XP_006720026.2

EC 3.4.21.21

XP_011535776.2

EC 3.4.21.21

XP_011535777.2

EC 3.4.21.21

XP_011535778.1

EC 3.4.21.21

XP_047286081.1

EC 3.4.21.21

XP_054230139.1

EC 3.4.21.21

XP_054230140.1

EC 3.4.21.21

XP_054230141.1

EC 3.4.21.21

XP_054230142.1

EC 3.4.21.21

XP_054230143.1

EC 3.4.21.21

NCBI Reference Sequences (RefSeq)

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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

4998..19891

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_554

mRNA and Protein(s)

NM_000131.4 → NP_000122.1 coagulation factor VII isoform a preproprotein

See identical proteins and their annotated locations for NP_000122.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AI076552, AK310779, AL137002, M13232

Consensus CDS

CCDS9528.1

UniProtKB/Swiss-Prot

B0YJC8, P08709, Q14339, Q5JVF1, Q5JVF2, Q9UD52, Q9UD53, Q9UD54

UniProtKB/TrEMBL

B4DPM2

Related

ENSP00000364731.3, ENST00000375581.3

Conserved Domains (5) summary

smart00020
Location:212 → 446

Tryp_SPc; Trypsin-like serine protease

smart00069
Location:42 → 104

GLA; Domain containing Gla (gamma-carboxyglutamate) residues

cd00054
Location:106 → 142

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

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 ...

pfam14670
Location:151 → 187

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001267554.2 → NP_001254483.1 coagulation factor VII isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks three consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AI076552, AK298404, AL137002

Consensus CDS

CCDS73602.1

UniProtKB/TrEMBL

B4DPM2, F5H8B0

Related

ENSP00000442051.2, ENST00000541084.5

Conserved Domains (4) summary

smart00020
Location:128 → 362

Tryp_SPc; Trypsin-like serine protease

cd00054
Location:22 → 58

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:129 → 365

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 ...

pfam14670
Location:67 → 103

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_019616.4 → NP_062562.1 coagulation factor VII isoform b precursor

See identical proteins and their annotated locations for NP_062562.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a. This isoform (b) may undergo proteolytic processing similar to isoform a.

Source sequence(s)

AI076552, AK310779, AL137002, BC130468

Consensus CDS

CCDS9529.1

UniProtKB/TrEMBL

B4DPM2

Related

ENSP00000329546.4, ENST00000346342.8

Conserved Domains (5) summary

smart00020
Location:190 → 424

Tryp_SPc; Trypsin-like serine protease

smart00069
Location:21 → 82

GLA; Domain containing Gla (gamma-carboxyglutamate) residues

cd00054
Location:84 → 120

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

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 ...

pfam14670
Location:129 → 165

FXa_inhibition; Coagulation Factor Xa inhibitory site

RNA

NR_051961.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two internal exons and uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI076552, AK310779, AK311682, AL137002

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

113105788..113120685

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537474.3 → XP_011535776.2 coagulation factor VII isoform X1

UniProtKB/TrEMBL

B4DPM2
XM_006719963.4 → XP_006720026.2 coagulation factor VII isoform X4

UniProtKB/TrEMBL

B4DPM2
XM_047430125.1 → XP_047286081.1 coagulation factor VII isoform X3
XM_011537475.3 → XP_011535777.2 coagulation factor VII isoform X2

UniProtKB/TrEMBL

B4DPM2
XM_011537476.3 → XP_011535778.1 coagulation factor VII isoform X5

UniProtKB/TrEMBL

B4DPM2

Conserved Domains (3) summary

smart00020
Location:110 → 344

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:111 → 347

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 ...

pfam14670
Location:49 → 85

FXa_inhibition; Coagulation Factor Xa inhibitory site