• Gene id: 2153

Gene Summary

• Gene Symbol: F5   Gene   UCSC   Ensembl
• Aliases: FVL, PCCF, RPRGL1, THPH2
• Gene name: coagulation factor V
• Alternate names: coagulation factor V, activated protein c cofactor, coagulation factor V (proaccelerin, labile factor), coagulation factor V jinjiang A2 domain, factor V Leiden,
• Gene location: 1q24.2 (169586629: 169511953)     Exons: 25     NC_000001.11
• Gene summary(Entrez): 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 lig
• OMIM: 612309

Protein Summary

• Protein general information: P12259  
  • Name: Coagulation factor V (Activated protein C cofactor) (Proaccelerin, labile factor) [Cleaved into: Coagulation factor V heavy chain; Coagulation factor V light chain]
  • Length: 2224  
  • Mass: 251,703
• Sequence:

  MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKK
  EKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTY
  EWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWS
  QSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTV
  GPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKY
  RSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGV
  TFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLI
  CKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTL
  GFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKL
  RLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEE
  FNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTA
  EHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGS
  PSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISP
  QNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHP
  LRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEE
  HYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS
  QTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMP
  LSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSP
  ALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFG
  QMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLND
  TFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSN
  NGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRA
  EVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSAC
  RAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMK
  KSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMK
  ASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSV
  EKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDAS
  TIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR
  ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLKSSMVD
  KIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY

• Structural information:
  • Protein Domains: F5/8 (30-329)
    Plastocyanin-like (30-193)
    Plastocyanin-like (203-329)
    F5/8 (348-684)
    Plastocyanin-like (348-526)
    Plastocyanin-like (536-684)
    F5/8 (1578-1907)
    (1578-17)
  • Interpro: IPR011707  IPR033138  IPR008972  IPR000421  IPR024715   IPR008979  
  • Prosite: PS01285 PS01286 PS50022 PS00079
  • PDB: 1CZS 1CZT 1CZV 1FV4 1Y61 3P6Z 3P70 3S9C
  • PDBsum: 1CZS 1CZT 1CZV 1FV4 1Y61 3P6Z 3P70 3S9C
  • DIP: 47331
  • STRING: ENSP00000356771
• Other Databases: GeneCards:  F5  Malacards:  F5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IEA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030168	platelet activation	IEA	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030168	platelet activation	IEA	biological process
GO:0031091	platelet alpha granule	IEA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0048208	COPII vesicle coating	TAS	biological process
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:1903561	extracellular vesicle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Cancer (colorectal)	GAD: 11595480
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (Hepatocellular)	GAD: 18618228
Cancer (Leukemia)	GAD: 15547928
Cancer (meningeal)	GAD: 20406964
Cancer (Squamous cell)	GAD: 16080493
Cancer	GAD: 12757770
Cancer (Adenocarcinoma)	GAD: 12115343
Cancer (Central nervous system)	GAD: 18824942
Cancer (colon)	GAD: 12013685
Cancer (stomach)	GAD: 16830369
Cancer (breast)	GAD: 18632446
Aneurysm	GAD: 19826759
Apoplexy	GAD: 20161734
Arterial Occlusive Diseases	GAD: 19132201
Atherosclerosis	GAD: 15247980
Atrial fibrillation	GAD: 17290027
Budd-Chiari syndrome	OMIM: 612309
Cardiovascular disease	GAD: 11341749
Carotid artery diseases	GAD: 12578864
Cerebral infarction	GAD: 12859287
Cerebrovascular disease	GAD: 12871600
Hypertension	GAD: 16369102
Phlebitis	GAD: 18387654
Peripheral vascular disease	GAD: 16906235
Restenosis	GAD: 12082592
Thromboembolism	GAD: 16875034
Thrombosis	GAD: 20017223
Vascular disease	GAD: 11568114
Venous thromboembolism	GAD: 18654780
Venous thrombosis	GAD: 19132190
Intrauterine growth retardation	GAD: 12097536
Hemochromatosis	GAD: 10383194
Hyperhomocysteinemia	GAD: 14707415
Glucosephosphate dehydrogenase deficiency	GAD: 19219640
Gastroschisis	GAD: 16098865
Gaucher disease	GAD: 11146461
Mesenteric vascular occlusion	GAD: 11197244
Retinopathy	GAD: 12964021
Choroidal neovascularization	GAD: 18378576
Retinal artery occlusion	GAD: 12928685
AHG deficiency disease	GAD: 17606451
Anemia	GAD: 20425806
Beta-thalassemia	GAD: 18480081
Blood coagulation disorders	GAD: 20642359
Thalassemia	GAD: 20973399
Thrombocytopenia	GAD: 12724616
Thrombophilia	GAD: 19330709
Von willebrand disease	GAD: 19959486
Thrombophilia	KEGG: H00223
Factor V deficiency	OMIM: 612309
Coagulation Protein Disorders	GAD: 19139080
Hemophilia	GAD: 18603540
Lymphoproliferative disorders	GAD: 15166939
Hemolytic uremic syndrome	GAD: 19110485
Antiphospholipid syndrome	GAD: 11454529
Autoimmune diseases	GAD: 11093465
Behcet's disease	GAD: 15077257
Ulcerative colitis	GAD: 18524690
Systemic lupus erythematosus (SLE)	GAD: 11529632
Chronic ulcerative colitis	GAD: 11595479
Crohn's disease	GAD: 17156138
Inflammatory bowel disease	GAD: 17111197
Obesity	GAD: 20148880
Diabetes	GAD: 19349859
Bone diseases	GAD: 15187864
Osteoporosis	GAD: 19064610
Perthes' disease	GAD: 15125132
Nervous system diseases	GAD: 15996400
Stroke	GAD: 12122980
Intracranial thrombosis	GAD: 16397131
Amyotrophic lateral sclerosis (ALS)	GAD: 18513389
Epilepsy	GAD: 19135623
Epilepsy	GAD: 19245802
Cerebral palsy	GAD: 18977990
Hearing Loss	GAD: 17334320
Albuminuria	GAD: 21054877
Kidney diseases	GAD: 11502996
Chronic renal failure	GAD: 21085059
Abortion	GAD: 20144172
Abruptio placentae	GAD: 19330709
Polycystic ovary syndrome (PCOS)	GAD: 11821270
Placenta diseases	GAD: 15091001
Preeclampsia	GAD: 18752569
Pregnancy-associated venous thromboembolism	GAD: 14531916
Unexplained infertility	GAD: 19806250
Female infertility	INFBASE: 23607386
Female infertility	INFBASE: 22047507
Secondary infertility	INFBASE: 23234018
Klinefelter syndrome	INFBASE: 9267259
Miscarriage	INFBASE: 15618258
Recurrent pregnancy loss (RPL)	INFBASE: 9350638
Polycystic ovary syndrome (PCOS)	INFBASE: 14669168
Recurrent pregnancy loss (RPL)	INFBASE: 22047507
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 17426795
Unexplained infertility	INFBASE: 19939360
Male factor infertility	MIK: 18591887
Chorioamnionitis	GAD: 20452482
High sperm counts	MIK: 20002540
Hypogonadotropic hypogonadism	MIK: 18591887
Pulmonary thromboembolism	GAD: 16881367
Dyspnea	GAD: 16186475
Varicose ulcer	GAD: 15453833
Connective tissue diseases	GAD: 19527514
Fetal loss thrombophilia	GAD: 19909951
Ischemia	GAD: 19356951
Retinal vascular occlusion	GAD: 16157382
Splanchnic vein thrombosis	GAD: 19922437
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 29779145
Recurrent pregnancy loss	MIK: 22047507

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22047507	Recurrent pregnancy loss	FVL, factor V H1299R, factor II prothrombin G20210A, FXIII V34L, ?-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo	Turkish	976 (870 individuals with RPL (543 Turkish women with RPL, 327 of their male partners), 106 fertile couples (control))	Male infertility, Female infertility	VL-FVR2 ApoE2 PAI-1  MTHFR C677T-A1298C ACE
29779145	Male infertility	c.1691G>A, p.(Arg506Gln)			Male infertility	GALT FMR1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881