Gene Gene information from NCBI Gene database.
Entrez ID 2153
Gene name Coagulation factor V
Gene symbol F5
Synonyms (NCBI Gene)
FVLPCCFRPRGL1THPH2
Chromosome 1
Chromosome location 1q24.2
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 lig
SNPs SNP information provided by dbSNP.
34
SNP ID Visualize variation Clinical significance Consequence
rs6007 T>C,G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs6011 G>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs6025 C>A,T Benign, pathogenic, conflicting-interpretations-of-pathogenicity, drug-response, risk-factor Coding sequence variant, missense variant
rs6034 G>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs118203905 T>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT020806 hsa-miR-155-5p Proteomics 18668040
MIRT441857 hsa-miR-323a-3p PAR-CLIP 22100165
MIRT441856 hsa-miR-634 PAR-CLIP 22100165
MIRT441855 hsa-miR-5585-5p PAR-CLIP 22100165
MIRT441857 hsa-miR-323a-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IEA
GO:0005515 Function Protein binding IPI 2844223, 6323392, 9556620, 28514442, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612309 3542 ENSG00000198734
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12259
Protein name Coagulation factor V (Activated protein C cofactor) (Proaccelerin, labile factor) [Cleaved into: Coagulation factor V heavy chain; Coagulation factor V light chain]
Protein function Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
PDB 1CZS , 1CZT , 1CZV , 3P6Z , 3P70 , 3S9C , 7KVE , 7KVF , 7KXY , 7TPP , 8FDG , 8TN9 , 9CTH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07732 Cu-oxidase_3 65 197 Multicopper oxidase Domain
PF06049 LSPR 1077 1085 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1185 1193 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1194 1202 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1203 1211 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1230 1238 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1239 1247 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1257 1265 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1275 1283 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1293 1301 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1302 1310 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1320 1328 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1338 1346 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1356 1364 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1374 1382 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1383 1391 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1410 1418 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1428 1436 Coagulation Factor V LSPD Repeat Repeat
PF06049 LSPR 1437 1445 Coagulation Factor V LSPD Repeat Repeat
PF07732 Cu-oxidase_3 1641 1753 Multicopper oxidase Domain
PF00754 F5_F8_type_C 1922 2058 F5/8 type C domain Domain
PF00754 F5_F8_type_C 2081 2218 F5/8 type C domain Domain
Tissue specificity TISSUE SPECIFICITY: Plasma.
Sequence
MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTS
FKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYS
KLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIE
DFNSGLIGPLLICKKGT
LTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNG
TMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTV
GPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVI
WDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILG
PIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGET
YTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAA
DIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTL
GFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGT
WMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEES
DADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSP
SNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPL
QPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGS
PSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQ
DTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRL
KKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPT
DLNQT
LPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHS
TSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS
QT
NLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSP
ELSQT
NLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMP
ISPDLSHT
TLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELS
QT
NLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSP
DISDT
TLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLND
TFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINS
SRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVF
RKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKS
SEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDI
HSGLIGPLLICQK
GILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMK
KSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLG
VWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISD
SQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQG
AKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARY
IRISPTRAYNRPTLRLEL
QGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR
ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQ
GVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLEL
FG
CDIY
Sequence length 2224
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades   Platelet degranulation
Common Pathway of Fibrin Clot Formation
COPII-mediated vesicle transport
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1908
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Budd-Chiari syndrome Pathogenic; Likely pathogenic rs780253174, rs750012108, rs1240137844, rs986891825, rs754982088, rs1571577365 RCV005051336
RCV005051362
RCV005051370
RCV005051373
RCV005049572
RCV005049685
Congenital factor V deficiency Pathogenic; Likely pathogenic rs770011773, rs118203907, rs757953549, rs2526392825, rs2526430459, rs2526418803, rs2526445575, rs760525448, rs1557915380, rs2526358716, rs1030984228, rs1271829589, rs780253174, rs2526395115, rs761915766
View all (31 more)
RCV003762092
RCV003595850
RCV003595925
RCV003596330
RCV003596338
RCV003596300
RCV003596379
RCV003596405
RCV003596400
RCV003596413
RCV003596788
RCV003596841
RCV003596842
RCV003596843
RCV003596844
RCV003596845
RCV003596846
RCV003596847
RCV003596939
RCV003596941
RCV003597078
RCV003597127
RCV003762482
RCV003763330
RCV003762698
RCV003763436
RCV003763370
RCV003763586
RCV003763615
RCV005051370
RCV003764219
RCV003764221
RCV005051373
RCV003763610
RCV003764247
RCV003764324
RCV003764257
RCV003764253
RCV003814205
RCV003827300
RCV003834792
RCV003875829
RCV003596008
RCV003762845
RCV003596549
RCV003596551
RCV005049685
F5-related disorder Pathogenic; Likely pathogenic rs780253174, rs1292267151 RCV004753692
RCV003959658
Factor V deficiency Likely pathogenic; Pathogenic rs2101818861, rs2101819850, rs2101818393, rs773569662, rs2101829195, rs118203907, rs118203908, rs118203909, rs2101810760, rs118203910, rs1389180171, rs757917115, rs780922091, rs2526395906, rs757953549
View all (9 more)
RCV001420391
RCV001420393
RCV000000680
RCV000000681
RCV000000682
RCV000000683
RCV000000684
RCV000000685
RCV000000687
RCV000000688
RCV002280991
RCV002280992
RCV002466883
RCV003152941
RCV000284956
RCV000852156
RCV000852111
RCV000851763
RCV000852092
RCV000852059
RCV000851711
RCV000852009
RCV000825520
RCV001256184
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Conflicting classifications of pathogenicity; Uncertain significance rs6011, rs377129476, rs6034 RCV001270593
RCV000851824
RCV001270592
Aganglionic megacolon Uncertain significance rs1571577319 RCV000984785
Budd-Chiari syndrome, susceptibility to drug response rs6025 RCV000000676
Cervical cancer Uncertain significance rs200126811 RCV005932661
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 17454173
Abortion Habitual Associate 12447960, 16194196, 16753154, 23683262, 24484533, 26060483, 27090446, 28819944, 36526982, 9207398
Abortion Habitual Stimulate 36554381
Abortion Spontaneous Stimulate 11821094, 36554381
Abortion Spontaneous Associate 12447960, 15618258, 16138341, 16194196, 17439630, 20002540, 23256575, 25153695, 34360543, 38057822
Abruptio Placentae Stimulate 21985600
Abruptio Placentae Associate 24645228
Activated Protein C Resistance Associate 10233368, 10726047, 10928623, 10936863, 10980068, 15257712, 18702875, 20002000, 21564075, 36695379, 7780138, 7989612, 8049422, 8573079, 9183305
View all (3 more)
Acute Coronary Syndrome Associate 27581673
Adenocarcinoma Associate 22247499