F5 coagulation factor V [Homo sapiens (human)] - Gene

Summary

Official Symbol: F5provided by HGNC
Official Full Name: coagulation factor Vprovided by HGNC
Primary source: HGNC:HGNC:3542
See related: Ensembl:ENSG00000198734 MIM:612309; AllianceGenome:HGNC:3542
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: FVL; PCCF; THPH2; RPRGL1
Summary: This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
Expression: Biased expression in liver (RPKM 48.1), placenta (RPKM 23.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169511951..169586481, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (168867198..168942366, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169481189..169555719, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).
Title: A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).
Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy.
Title: Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy.
Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.
Title: Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.
Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.
Title: Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.
Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.
Title: Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.
Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).
Title: Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).
Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.
Title: Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.
Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.
Title: Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.
[The analysis of a pedigree with hereditary coagulation factor deficiency caused by compound heterozygous variation of F5 gene].
Title: [The analysis of a pedigree with hereditary coagulation factor Ⅴ deficiency caused by compound heterozygous variation of F5 gene].
IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.
Title: IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.

Submit: New GeneRIF Correction See all GeneRIFs (634)

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
Budd-Chiari syndrome MedGen: C0856761 OMIM: 600880 GeneReviews: Not available	not available
Congenital factor V deficiency MedGen: C0015499 OMIM: 227400 GeneReviews: Not available	not available
Ischemic stroke MedGen: C0948008 OMIM: 601367 GeneReviews: Not available	not available
Pregnancy loss, recurrent, susceptibility to, 1 MedGen: C3280670 OMIM: 614389 GeneReviews: Not available	not available
Thrombophilia due to activated protein C resistance MedGen: C1861171 OMIM: 188055 GeneReviews: Factor V Leiden Thrombophilia	not available

EBI GWAS Catalog

Description
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. EBI GWAS Catalog EBI GWAS CatalogPubMed
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
Genetic predictors of fibrin D-dimer levels in healthy adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of venous thrombosis: insights from a new genome wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci influencing hippocampal degeneration identified by genome scan. 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

RH11068 (e-PCR)
- UniSTS:11844

RH70793 (e-PCR)
- UniSTS:9805

G33041 (e-PCR)
- UniSTS:117618

SGC32933 (e-PCR)
- UniSTS:390

A010A11 (e-PCR)
- UniSTS:916

SHGC-34799 (e-PCR)
- UniSTS:41149

PMC87879P1 (e-PCR)
- UniSTS:273600

PMC87879P2 (e-PCR)
- UniSTS:273601

AL009384 (e-PCR)
- UniSTS:46058

F5-667F (e-PCR)
- UniSTS:66292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood circulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to vitamin K	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in COPII-coated ER to Golgi transport vesicle	TAS Traceable Author Statement more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular vesicle	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in platelet alpha granule	IBA Inferred from Biological aspect of Ancestor more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: coagulation factor V

Names: activated protein c cofactor; coagulation factor V (proaccelerin, labile factor); coagulation factor V jinjiang A2 domain; factor V Leiden

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_011806.1 RefSeqGene

Range

5001..79578

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_553

mRNA and Protein(s)

NM_000130.5 → NP_000121.2 coagulation factor V preproprotein

See identical proteins and their annotated locations for NP_000121.2

Status: REVIEWED

Source sequence(s)

AK226079, AU279657, M16967, Z99572

Consensus CDS

CCDS1281.1

UniProtKB/Swiss-Prot

A8K6E8, P12259, Q14285, Q2EHR5, Q5R346, Q5R347, Q6UPU6, Q8WWQ6

UniProtKB/TrEMBL

A0A0A0MRJ7

Related

ENSP00000356771.3, ENST00000367797.9

Conserved Domains (6) summary

smart00231
Location:1906 → 2061

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:2068 → 2220

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd14450
Location:348 → 528

CuRO_3_FV_like; The third cupredoxin domain of coagulation factor V and similar proteins

cd14451
Location:1579 → 1754

CuRO_5_FV_like; The fifth cupredoxin domain of coagulation factor V and similar proteins

cd14454
Location:541 → 684

CuRO_4_FV_like; The fourth cupredoxin domain of coagulation factor V and similar proteins

cl19115
Location:32 → 196

Cupredoxin; Cupredoxin superfamily