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Aliases & Descriptions for F5
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| FVL 2 | | OTTHUMP00000032547 2 | | PCCF 2 |
| | | Descriptions |
|---|
| Activated protein C cofactor 2, 3 | | Proaccelerin, labile factor 3 | | coagulation factor V 2 | | coagulation factor V (proaccelerin, labile factor) 2 | | coagulation factor V jinjiang A2 domain 2 | | factor V Leiden 2 |
|
| | Search outside databases for aliases for F5 genePrevious GC identifers: GC01M167112 GC01M165134 GC01M166179 GC01M166670 GC01M166215 |
Summaries for F5(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for F5: 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] UniProtKB/Swiss-Prot: FA5_HUMAN, P12259Function: 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 thrombinGene Wiki entry for F5 (Factor_V) |
Genomic Location for F5
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the F5 gene 
Entrez Gene cytogenetic band: 1q23 Ensembl cytogenetic band: 1q24.2 HGNC cytogenetic band: 1q23F5 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M167750:
(about GC identifiers)
Start:
|
167,747,816 bp from pter |
End:
|
167,822,393 bp from pter |
Size:
|
74,578 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_004487.18
| Proteins for F5
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FA5_HUMAN, P12259 (See
protein sequence)Recommended Name: Coagulation factor V precursor Size: 2224 amino acids; 251671 Da
Subunit: Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently bound. The interaction between the two chains is calcium-dependent
Subcellular location: Secreted (By similarity)
PDB structures from and Proteopedia :1CZS (3D)
 1CZT (3D)
 1CZV (3D)
 1FV4 (3D)
 1Y61 (3D)
 
Secondary accessions: A8K6E8 Q14285 Q2EHR5 Q5R346 Q5R347 Q6UPU6 Q8WWQ6Post-translational modifications:
Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus)1
Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity1
Activated protein C inactivates factor V and factor Va by proteolytic degradation1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000121.2
ENSEMBL proteins: ENSP00000356770 ENSP00000356771
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for F5: Assays for F5: | Protein
Domains/ Families for F5(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P12259
ProtoNet protein and cluster: P12259 1 Blocks protein family: IPB000421 Coagulation factor 5/8 type C domain (FA58C)
UniProtKB/Swiss-Prot: FA5_HUMAN, P12259Domain: Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeatsSimilarity: Belongs to the multicopper oxidase familySimilarity: Contains 3 F5/8 type A domainsSimilarity: Contains 2 F5/8 type C domainsSimilarity: Contains 6 plastocyanin-like domains | Gene Function for F5
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000130
Applied Biosystems Silencer® siRNAs for F5
Sigma-Aldrich siRNA and siRNA Panels for F5  Sigma-Aldrich shRNA for F5  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000130                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000130                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000130 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000130
UniProtKB/Swiss-Prot: FA5_HUMAN, P12259Function: 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 thrombinGenatlas biochemistry entry for F5:coagulation factor V (proaccelerin,labile factor),cofactor in the activation of prothrombin (F2) by activated F10,colocalized and complexed with merin multimerin in platelets alpha-granules11 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for F5):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005507 | copper ion binding |
IEA | -- | | GO:0005509 | calcium ion binding |
IEA | -- | | GO:0016491 | oxidoreductase activity |
IEA | -- | About this table | Pathways & Interactions for F5
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for F5 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for F5 
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for F5(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  | Sigma-Aldrich Small Molecules for F5: Inhibitor |
Browse Tocris compounds for F5 10/40 Novoseek chemical compound relationships for F5 gene (see all 40
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fibrinogen |
82.00 |
332 |
9081677 (5), 15217806 (4), 10831587 (3), 15306149 (3) (see all 99) |
| homocysteine |
73.95 |
133 |
11083858 (5), 15175797 (3), 2154269 (2), 10847236 (2) (see all 99) |
| gamma-carboxyglutamic acid |
68.85 |
13 |
1498334 (2), 1905953 (1), 8180219 (1), 7999756 (1) (see all 8) |
| phospholipid |
61.01 |
66 |
8456424 (4), 8206891 (2), 1412190 (2), 9731110 (2) (see all 48) |
| vtes |
49.24 |
1 |
15130065 (1) |
| spectrozyme |
47.21 |
1 |
2232257 (1) |
| hirugen |
45.22 |
5 |
1590777 (3), 8662922 (2) |
| n-apc |
44.29 |
1 |
15016779 (1) |
| cardiolipin |
43.96 |
15 |
16395490 (1), 10990549 (1), 16512831 (1), 11487028 (1) (see all 13) |
| 5-methyltetrahydrofolate |
39.81 |
11 |
12514663 (1), 15198356 (1), 15188139 (1), 11872195 (1) (see all 9) |
About this table
2 PharmGKB drug compound relationships for F5 geneAbout this table
|
Transcripts for F5(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000130
Sigma-Aldrich siRNA and siRNA Panels for F5  Sigma-Aldrich shRNA for F5  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000130 REFSEQ mRNAs for F5 gene: NM_000130.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000130               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000130                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000130                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000130  Additional cDNA sequence: AJ297254.1 AJ297255.1 AK226079.1 AK291613.1 AK300469.1 CR626632.1 M14335.1 M16967.1 M94010.1 4 DOTS entries: DT.455722 DT.100780251 DT.92428603 DT.95293061 24/135 AceView cDNA sequences (see all 135
):T28497 AV654769 CB162253 BE219652 AV650215 AI306468 AW291519 AL552613 AI692757 AA344458 AI796803 AU279657 H70968 CA390389 AW294470 CA395167 AV650378 CA393309 AW294101 CA395604 BP366398 CR626632 AA780062 AW451710
highest scoring ESTs for F5:M16967 AU076606 AU279657 BI020494 BX492043 BX496193 M14335 AA334614 AA344458 AA676237 Unigene Cluster for F5: Coagulation factor V (proaccelerin, labile factor) Hs.30054 [show with all ESTs]Unigene Representative Sequence: NM_000130
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000367796
ENST00000367797
|
Expression for F5
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| F5 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for F5
1 / 2 / 3 8 probe-sets matching F5 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAATCAAAGT
SOURCE GeneReport for Unigene cluster: Hs.30054
Expression variation in blood from EXPOLDB for F5 |
Orthologs for F5
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for F5 gene from 4 species
About this table Species with no ortholog for F5
ENSEMBL Gene Tree for F5 | Paralogs for F5(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for F5 gene
- F82
|
SNPs/Variants for F5(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for F5 (up to first 250kb)
|
Disorders & Mutations for F5
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 612309 disorders: 227400 188055 601367 600880 188055 UniProtKB/Swiss-Prot: FA5_HUMAN, P12259
Defects in F5 are the cause of factor V deficiency (FA5D) [MIM:227400]; also known as Owren parahemophilia. It is an hemorrhagic diastesis Defects in F5 are the cause of thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]. THR-APCR is a hemostatic disorder due to defective degradation of factor Va by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis Defects in F5 are a cause of susceptibility to Budd-Chiari syndrome [MIM:600880]. Budd-Chiari syndrome is a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain, and abdominal ascites Defects in F5 may be a cause of susceptibility to ischemic stroke [MIM:601367]; also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors10/98 Novoseek disease relationships for F5 gene (see all 98
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| apc resistance |
98.66 |
1932 |
10499894 (12), 9156566 (9), 10871461 (9), 9240602 (7) (see all 99) |
| thrombophilia |
96.75 |
622 |
9820002 (3), 9350176 (3), 9577282 (3), 16256098 (3) (see all 99) |
| venous thrombosis |
93.24 |
708 |
9471929 (7), 10477778 (6), 16758522 (6), 17200768 (6) (see all 99) |
| protein s deficiency |
93.10 |
174 |
15706484 (3), 9746774 (3), 9241737 (2), 9607123 (2) (see all 99) |
| thrombosis |
91.87 |
762 |
12180730 (6), 8592550 (5), 8774498 (4), 8671856 (4) (see all 99) |
| thromboembolism |
91.65 |
493 |
9092318 (8), 12468175 (6), 10215560 (6), 11734673 (5) (see all 99) |
| protein c deficiency |
90.76 |
133 |
7562967 (5), 9128811 (3), 8943855 (3), 14707707 (2) (see all 97) |
| antithrombin iii deficiency |
86.00 |
46 |
17710975 (2), 12192310 (1), 15919499 (1), 18685442 (1) (see all 41) |
| coagulopathy |
84.24 |
117 |
8429648 (3), 9531249 (3), 11700394 (2), 10229050 (2) (see all 99) |
| f5f8d |
83.38 |
17 |
18056485 (2), 12717434 (2), 18590741 (1), 17287640 (1) (see all 15) |
About this table
3 PharmGKB disease relationships for F5 geneAbout this table
Genatlas disease: F5 parahemophilia GeneTests: F5 Factor V Leiden Thrombophilia Human Gene Mutation Database: F5 Genetic Association Database: F5 Human Genome Epidemiology Navigator: F5 (705 documents)
|
Medical News for F5(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for F5 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/3030 PubMed articles for F5 gene (see all 3030
):- Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PubMed id 15534175)3, 4, 6 Casas J.P.... Sharma P. (2004)
- Effect of factor V Leiden polymorphism in severe sepsis and on treatment with recombinant human activated protein C. (PubMed id 15118525)1, 3, 7 Yan S.B. and Nelson D.R. (2004)
- Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. (PubMed id 8713778)3, 4, 6 Lunghi B....Bernardi F. (1996)
- Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity. (PubMed id 8204629)1, 3, 4 Pittman D.D....Kaufman R.J. (1994)
- [Effects of factor V Leiden mutations on prognosis in patients with acute myocardial infarction] (PubMed id 12101832)1, 3, 6 Baykan M....Erdol C. (2001)
- A whole-blood homogeneous assay for the multiplex detection of the factor V G1691A and the prothrombin G20210A mutations. (PubMed id 16006096)1, 3, 6 Hobson-Peters J. and Toye P. (2005)
- [Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome] (PubMed id 16320685)1, 3, 6 Kalashnikova L.A....Nasonov E.L. (2005)
- -455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications. (PubMed id 15091001)1, 3, 6 Camilleri R.S....Cohen H. (2004)
- [Occurrence of gene mutations in factor V Leiden, prothrombin and methylenetetrahydrofolate reductase in patients with pre-eclampsia] (PubMed id 12879654)1, 3, 6 Prochazka M....Slavik L. (2003)
- [Cerebral venous thrombosis and factor V Leiden mutation] (PubMed id 11953127)1, 3, 6 Meng Q. and Pu C. (2002)
|
Search for F5
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing F5
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing F5
(According to HUGE)
About This Section
| -- |
Specialized Databases showing F5(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Wikipedia | http://en.wikipedia.org/wiki/Factor_V | | GeneReviews | http://www.genetests.org/query?gene=F5 | | SeattleSNPs | http://pga.gs.washington.edu/data/f5/ | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F5 |
|
| | | About This Section
| --
| Services for F5(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
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Incremental update: 13 Oct 2009
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