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Aliases & Descriptions for F9
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.4.21.22 3 | | FIX 1, 2 | | HEMB 2, 5 | | MGC129641 2 | | MGC129642 2 | | OTTHUMP00000024154 2 | | PTC 2, 3 |
| | | Descriptions |
|---|
| Christmas factor 2, 3 | | Plasma thromboplastin component 3 | | coagulation factor IX 2 | | factor 9 2 | | plasma thromboplastic component 2 |
|
| | Search outside databases for aliases for F9 genePrevious GC identifers: GC0XP133196 GC0XP135470 GC0XP136557 GC0XP137318 GC0XP138338 |
Summaries for F9(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for F9: This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq] UniProtKB/Swiss-Prot: FA9_HUMAN, P00740Function: Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIaGene Wiki entry for F9 (Factor_IX) |
Genomic Location for F9
(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 F9 gene 
Entrez Gene cytogenetic band: Xq27.1-q27.2 Ensembl cytogenetic band: Xq27.1 HGNC cytogenetic band: Xq26.3-q27.1F9 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 X GeneLoc Exon Structure GeneLoc location for GC0XP138440:
(about GC identifiers)
Start:
|
138,440,561 bp from pter |
End:
|
138,473,283 bp from pter |
Size:
|
32,723 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000023.9 NT_011786.15
| Proteins for F9
(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: FA9_HUMAN, P00740 (See
protein sequence)Recommended Name: Coagulation factor IX precursor Size: 461 amino acids; 51778 Da
Subunit: Heterodimer of a light chain and a heavy chain; disulfide-linked
Subcellular location: Secreted
Miscellaneous: In 1952, one of the earliest researchers of the disease, Dr. R.G. Macfarlane used the patient's surname, Christmas, to refer to the disease and also to refer to the clotting factor which he called the 'Christmas Factor' At the time Stephen Christmas was a 5-year-old boy. He died in 1993 at the age of 46 from acquired immunodeficiency syndrome contracted through treatment with blood products
PDB structures from and Proteopedia :1CFH (3D)
 1CFI (3D)
 1EDM (3D)
 1IXA (3D)
 1MGX (3D)
 1NL0 (3D)
 1RFN (3D)
 
Secondary accessions: Q5JYJ8Post-translational modifications:
Activated by factor XIa, which excises the activation peptide1
The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000124.1
ENSEMBL proteins: ENSP00000377650 ENSP00000218099
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 F9: Assays for F9: | Protein
Domains/ Families for F9(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 P00740
ProtoNet protein and cluster: P00740 5/7 Blocks protein families (see all 7
): IPB000152 Aspartic acid and asparagine hydroxylation site IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain IPB001254 Serine protease IPB001314 Chymotrypsin serine protease family (S1) signature IPB001438 Type II EGF-like signature
UniProtKB/Swiss-Prot: FA9_HUMAN, P00740Domain: Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domainSimilarity: Belongs to the peptidase S1 familySimilarity: Contains 2 EGF-like domainsSimilarity: Contains 1 Gla (gamma-carboxy-glutamate) domainSimilarity: Contains 1 peptidase S1 domain | Gene Function for F9
(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_000133
Applied Biosystems Silencer® siRNAs for F9
Sigma-Aldrich siRNA and siRNA Panels for F9  Sigma-Aldrich shRNA Panels and shRNA for F9  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000133                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000133                                  untagged cDNA clone in CMV expression vector: NM_000133 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000133
UniProtKB/Swiss-Prot: FA9_HUMAN, P00740Function: Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIaCatalytic activity: Selective cleavage of Arg- -Ile bond in factor X to form factor XaEnzyme Number (IUBMB): EC 3.4.21.22 Genatlas biochemistry entry for F9:coagulation factor IX,vitamin K-dependent (plasma thromboplastic component)7 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for F9):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for F9
(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
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for F9 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for F9 
5/33 Interacting proteins for F9 (ENSP000002180993) via UniProtKB, MINT, and/or STRING (see all 33
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for F9(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
|
Browse Tocris compounds for F9 UniProtKB/Swiss-Prot: FA9_HUMAN, P00740Pharmaceutical: Available under the names BeneFix (Baxter and American Home Products). Used to treat hemophilia B 10/51 Novoseek chemical compound relationships for F9 gene (see all 51
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| gamma-carboxyglutamic acid |
87.74 |
113 |
12496253 (6), 8180219 (4), 17387172 (3), 9169594 (3) (see all 32) |
| erythro-beta-hydroxyaspartic acid |
78.23 |
1 |
7906269 (1) |
| p-amino benzamidine |
76.34 |
8 |
15829482 (1), 17676929 (1), 7740454 (1) |
| fibrinogen |
68.42 |
59 |
18409149 (4), 11111234 (2), 12228267 (2), 17586991 (2) (see all 49) |
| echicetin |
54.00 |
1 |
7599152 (1) |
| phospholipid |
52.28 |
39 |
2248955 (3), 7680311 (3), 2363125 (2), 7547952 (2) (see all 23) |
| dithio |
50.52 |
5 |
2355000 (2), 1438159 (1), 2249997 (1) |
| chymotrypsinogen |
50.52 |
1 |
11551226 (1) |
| tributylphosphate |
35.37 |
3 |
10799053 (1) |
| tetrasaccharide |
34.50 |
6 |
1517205 (2), 7896789 (1), 7681016 (1), 10734111 (1) (see all 5) |
About this table
|
Transcripts for F9(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_000133
Sigma-Aldrich siRNA and siRNA Panels for F9  Sigma-Aldrich shRNA Panels and shRNA for F9  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000133 REFSEQ mRNAs for F9 gene: NM_000133.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000133               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000133                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000133                                  untagged cDNA clone in CMV expression vector: NM_000133  Additional cDNA sequence: AB186358.1 AK292749.1 BC109214.1 BC109215.1 J00136.1 J00137.1 M11309.1 M35672.1 4 DOTS entries: DT.100735617 DT.208175 DT.91668233 DT.91668240 24 AceView cDNA sequences:NM_000133 T28608 M35672 M11309 A22478 CD607649 CB157484 BX495480 J00136 CB156936 J00137 A22493 BX495491 AV694632 AV689501 AV696892 AV695793 AV698079 AV684051 AV695911 AV687276 AV685937 BX448845 AV690464
highest scoring ESTs for F9:CB156936 CB157484 J00136 J00137 M11309 M35672 T28608 AB186358 AV647038 AV647182 Unigene Cluster for F9: Coagulation factor IX Hs.522798 [show with all ESTs]Unigene Representative Sequence: NM_000133
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000394090
ENST00000218099
|
Expression for F9
(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
| F9 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for F9
1 / 2 / 3 3 probe-sets matching F9 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAACATTTTG
SOURCE GeneReport for Unigene cluster: Hs.522798
Expression variation in blood from EXPOLDB for F9 UniProtKB/Swiss-Prot: FA9_HUMAN, P00740Tissue specificity: Synthesized primarily in the liver and secreted in plasma |
Orthologs for F9
(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 F9 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for F9
ENSEMBL Gene Tree for F9 | Paralogs for F9(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for F9 gene
- F102 F72
|
SNPs/Variants for F9(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 F9 (up to first 250kb)
|
Disorders & Mutations for F9
(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: 300746 disorders: 306900 UniProtKB/Swiss-Prot: FA9_HUMAN, P00740
Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) [MIM:306900]; also known as Christmas disease Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide, mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide10/93 Novoseek disease relationships for F9 gene (see all 93
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hemophilia b |
98.46 |
478 |
7974341 (4), 1495722 (4), 11931806 (3), 8579061 (3) (see all 99) |
| hemophilia a |
88.48 |
69 |
15508114 (2), 18388500 (2), 8352232 (2), 2105634 (1) (see all 53) |
| coagulopathy |
83.66 |
67 |
9883841 (2), 1495722 (2), 2105634 (1), 1905206 (1) (see all 51) |
| factor xi deficiency |
76.69 |
7 |
8639777 (2), 12432326 (1), 15611579 (1), 15842381 (1) (see all 6) |
| factor vii deficiency |
73.30 |
5 |
8904177 (1), 10805278 (1), 15660984 (1), 7579395 (1) (see all 5) |
| bleeding |
71.20 |
125 |
18721150 (4), 7886549 (3), 16269929 (3), 9446637 (3) (see all 84) |
| factor x deficiency |
66.94 |
4 |
8028609 (2), 9038673 (1), 18374200 (1) |
| von willebrand disease |
64.35 |
15 |
7600466 (1), 12432326 (1), 15357775 (1), 10517121 (1) (see all 13) |
| inherited coagulation disorders |
63.01 |
4 |
11735604 (1), 12109144 (1) |
| hemarthrosis |
62.25 |
4 |
8579741 (1), 18716130 (1), 15569163 (1), 1782338 (1) |
About this table
Genatlas disease: F9 hemophilia B,Christmas disease,with a higher rate of transmitted mutation with increased maternal age GeneTests: F9 Hemophilia B Human Gene Mutation Database: F9 Genetic Association Database: F9 Human Genome Epidemiology Navigator: F9 (17 documents)
|
Medical News for F9(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for F9 (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
| 10/901 PubMed articles for F9 gene (see all 901
):- Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. (PubMed id 1346975)1, 3, 4 Ludwig M.... Bajaj S.P. (1992)
- Identification of the phospholipid binding site in the vitamin K- dependent blood coagulation protein factor IX. (PubMed id 8663165)1, 3, 4 Freedman S.J....Furie B. (1996)
- Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX. (PubMed id 7547952)1, 3, 4 Freedman S.J.... Baleja J.D. (1995)
- Activation peptide of human factor IX has oligosaccharides O- glycosidically linked to threonine residues at 159 and 169. (PubMed id 8172892)1, 3, 4 Agarwala K.L.... Iwanaga S. (1994)
- Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations. (PubMed id 12588353)1, 3, 4 Onay U.V.... Caglayan S.H. (2003)
- Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy. (PubMed id 7713897)1, 3, 4 Freedman S.J.... Baleja J.D. (1995)
- The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions. (PubMed id 7606779)1, 3, 4 Rao Z.... Stuart D. (1995)
- The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa. (PubMed id 8295821)1, 3, 4 de la Salle C....Balland A. (1993)
- Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue. (PubMed id 1517205)1, 3, 4 Nishimura H.... Iwanaga S. (1992)
- The three-dimensional structure of the first EGF-like module of human factor IX: comparison with EGF and TGF-alpha. (PubMed id 1304885)1, 3, 4 Baron M.... Campbell I.D.C. (1992)
|
Search for F9
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing F9
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing F9
(According to HUGE)
About This Section
| -- |
Specialized Databases showing F9(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_IX | | HAEMB | http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html | | GeneReviews | http://www.genetests.org/query?gene=F9 | | SeattleSNPs | http://pga.gs.washington.edu/data/f9/ | | BeneFix | http://www.wyeth.com/products/benefix.asp | | Protein Spotlight | http://www.expasy.org/spotlight/back_issues/sptlt041.shtml |
|
| | | About This Section
| --
| Services for F9(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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