coagulation factor IX

• 凝固第IX因子

関

blood coagulation factor IX、factor IX、factor IX complex、PTC

WordNet

1. be a contributing factor; "make things factor into a companys profitability"
2. any of the numbers (or symbols) that form a product when multiplied together
3. an independent variable in statistics
4. anything that contributes causally to a result; "a number of factors determined the outcome"
5. consider as relevant when making a decision; "You must factor in the recent developments" (同)factor in, factor out
6. resolve into factors; "a quantum computer can factor the number 15" (同)factor in, factor out
7. an event known to have happened or something known to have existed; "your fears have no basis in fact"; "how much of the story is fact and how much fiction is hard to tell"
8. a concept whose truth can be proved; "scientific hypotheses are not facts"
9. a piece of information about circumstances that exist or events that have occurred; "first you must collect all the facts of the case"
10. a statement or assertion of verified information about something that is the case or has happened; "he supported his argument with an impressive array of facts"
11. the 9th letter of the Roman alphabet (同)i

PrepTutorEJDIC

1. (…の)『要因』,(…を生み出す)要素《+『in』+『名』(do『ing』)》 / 囲数,約数 / 代理人,《おもに英》仲買人 / =factorize
2. 〈C〉『事実』,実際にある(あった)事 / 〈U〉真相,真実(truth) / 《the~》(法律用語で)犯行
3. 『私は』私が
4. iodineの化学記号
5. 凝固,凝結

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/10 04:45:52」(JST)

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Coagulation factor IX
PDB rendering based on 1pfx.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1CFH, 1CFI, 1EDM, 1IXA, 1MGX, 1NL0, 1RFN, 2WPH, 2WPI, 2WPJ, 2WPK, 2WPL, 2WPM, 3KCG, 3LC3, 3LC5, 4YZU, 4Z0K, 4ZAE
Identifiers
Symbols	F9 ; FIX; HEMB; P19; PTC; THPH8
External IDs	OMIM: 300746 MGI: 88384 HomoloGene: 106 ChEMBL: 2016 GeneCards: F9 Gene
EC number	3.4.21.22
Gene ontology Molecular function • endopeptidase activity • serine-type endopeptidase activity • calcium ion binding Cellular component • extracellular region • extracellular space • endoplasmic reticulum lumen • Golgi lumen • plasma membrane • extracellular exosome Biological process • proteolysis • blood coagulation • blood coagulation, intrinsic pathway • blood coagulation, extrinsic pathway • peptidyl-glutamic acid carboxylation • zymogen activation • post-translational protein modification • cellular protein metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2158	14071
Ensembl	ENSG00000101981	ENSMUSG00000031138
UniProt	P00740	P16294
RefSeq (mRNA)	NM_000133	NM_001305797
RefSeq (protein)	NP_000124	NP_001292726
Location (UCSC)	Chr X: 139.53 – 139.56 Mb	Chr X: 60 – 60.03 Mb
PubMed search	[1]	[2]

Factor IX (or Christmas factor) (EC 3.4.21.22) is one of the serine proteases of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes hemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to hemophilia.

Physiology

The blood coagulation and Protein C pathway.

Factor IX is produced as a zymogen, an inactive precursor. It is processed to remove the signal peptide, glycosylated and then cleaved by factor XIa (of the contact pathway) or factor VIIa (of the tissue factor pathway) to produce a two-chain form where the chains are linked by a disulfide bridge. When activated into factor IXa, in the presence of Ca²⁺, membrane phospholipids, and a Factor VIII cofactor, it hydrolyses one arginine-isoleucine bond in factor X to form factor Xa.

Factor IX is inhibited by antithrombin.

Factor IX expression increases with age in humans and mice. In mouse models mutations within the promoter region of factor IX have an age-dependent phenotype.

Domain architecture

Factors VII, IX, and X all play key roles in blood coagulation and also share a common domain architecture. The factor IX protein is composed of four protein domains: the Gla domain, two tandem copies of the EGF domain and a C-terminal trypsin-like peptidase domain which carries out the catalytic cleavage.

Human factor IX protein domain architecture, where each protein domain is represented by a coloured box

The N-terminal EGF domain has been shown to at least in part be responsible for binding tissue factor. Wilkinson et al. conclude that residues 88 to 109 of the second EGF domain mediate binding to platelets and assembly of the factor X activating complex.

The structures of all four domains have been solved. A structure of the two EGF domains and the trypsin-like domain was determined for the pig protein. The structure of the Gla domain, which is responsible for Ca(II)-dependent phospholipid binding, was also determined by NMR.

Several structures of 'super active' mutants have been solved, which reveal the nature of factor IX activation by other proteins in the clotting cascade.

Genetics

The gene for factor IX is located on the X chromosome (Xq27.1-q27.2) and is therefore X-linked recessive: mutations in this gene affect males much more frequently than females. It was first cloned in 1982 by Kotoku Kurachi and Earl Davie.

Polly, a transgenic cloned Poll Dorset sheep carrying the gene for factor IX, was produced by Dr Ian Wilmut at the Roslin Institute in 1997.

Role in disease

Deficiency of factor IX causes Christmas disease (hemophilia B). Over 100 mutations of factor IX have been described; some cause no symptoms, but many lead to a significant bleeding disorder. The original Christmas disease mutation was identified by sequencing of Christmas' DNA, revealing a mutation which changed a cysteine to a serine. Recombinant factor IX is used to treat Christmas disease, and is commercially available as BeneFIX and Alprolix. Some rare mutations of factor IX result in elevated clotting activity, and can result in clotting diseases, such as deep vein thrombosis.

Factor IX deficiency is treated by injection of purified factor IX produced through cloning in various animal or animal cell vectors. Tranexamic acid may be of value in patients undergoing surgery who have inherited factor IX deficiency in order to reduce the perioperative risk of bleeding.

A list of all the mutations in Factor IX is compiled and maintained at the Factor IX mutation database maintained at the University College London.

References

Further reading

• Davie EW, Fujikawa K (1975). "Basic mechanisms in blood coagulation". Annual Review of Biochemistry 44: 799–829. doi:10.1146/annurev.bi.44.070175.004055. PMID 237463. 
• Sommer SS (Jul 1992). "Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene". FASEB Journal 6 (10): 2767–74. PMID 1634040. 
• Lenting PJ, van Mourik JA, Mertens K (Dec 1998). "The life cycle of coagulation factor VIII in view of its structure and function". Blood 92 (11): 3983–96. PMID 9834200. 
• Lowe GD (Dec 2001). "Factor IX and thrombosis". British Journal of Haematology 115 (3): 507–13. doi:10.1046/j.1365-2141.2001.03186.x. PMID 11736930. 
• O'Connell NM (Jun 2003). "Factor XI deficiency--from molecular genetics to clinical management". Blood Coagulation & Fibrinolysis. 14 Suppl 1: S59–64. doi:10.1097/00001721-200306001-00014. PMID 14567539. 
• Du X (May 2007). "Signaling and regulation of the platelet glycoprotein Ib-IX-V complex". Current Opinion in Hematology 14 (3): 262–9. doi:10.1097/MOH.0b013e3280dce51a. PMID 17414217. 

External links

• GeneReviews/NCBI/NIH/UW entry on Hemophilia B
• The MEROPS online database for peptidases and their inhibitors: S01.214
• An X(-mas) Factor that gets our vote- QUite Interesting PDB Structure article at PDBe

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 血友病患者における第VIIIおよび第IX因子阻害物質 factor viii and factor ix inhibitors in patients with hemophilia
• 2. 血友病の治療 treatment of hemophilia
• 3. 血漿分画製剤および組換えDNA産生凝固因子 plasma derivatives and recombinant dna produced coagulation factors
• 4. 第VIII因子および第IX因子の生物学と正常な機能 biology and normal function of factor viii and factor ix
• 5. 肝臓の合成能の検査（アルブミン、凝固因子、プロトロンビン時間など） tests of the livers biosynthetic capacity eg albumin coagulation factors prothrombin time

English Journal

• Optical imaging of pre-invasive breast cancer with a combination of VHHs targeting CAIX and HER2 increases contrast and facilitates tumour characterization.

• Kijanka MM1, van Brussel AS2,3, van der Wall E4, Mali WP5, van Diest PJ6, van Bergen En Henegouwen PM7, Oliveira S8,9.
• EJNMMI research.EJNMMI Res.2016 Dec;6(1):14. doi: 10.1186/s13550-016-0166-y. Epub 2016 Feb 10.
• BACKGROUND: Optical molecular imaging is an emerging novel technology with applications in the diagnosis of cancer and assistance in image-guided surgery. A high tumour-to-background (T/B) ratio is crucial for successful imaging, which strongly depends on tumour-specific probes that rapidly accumula
• PMID 26860296

• Evaluation of Viremia Frequencies of a Novel Human Pegivirus by Using Bioinformatic Screening and PCR.

• Bonsall D, Gregory WF, Ip CL, Donfield S, Iles J, Ansari MA, Piazza P, Trebes A, Brown A, Frater J, Pybus OG, Goulder P, Klenerman P, Bowden R, Gomperts ED, Barnes E, Kapoor A, Sharp CP, Simmonds P.
• Emerging infectious diseases.Emerg Infect Dis.2016 Apr;22(4):671-8. doi: 10.3201/eid2204.151812.
• Next-generation sequencing has critical applications in virus discovery, diagnostics, and environmental surveillance. We used metagenomic sequence libraries for retrospective screening of plasma samples for the recently discovered human hepegivirus 1 (HHpgV-1). From a cohort of 150 hepatitis C virus
• PMID 26982117

• Dynamic expression of transcription factor Brn3b during mouse cranial nerve development.

• Sajgo S1,2, Ali S1, Popescu O2,3, Badea TC1.
• The Journal of comparative neurology.J Comp Neurol.2016 Apr 1;524(5):1033-61. doi: 10.1002/cne.23890. Epub 2015 Sep 29.
• During development, transcription factor combinatorial codes define a large variety of morphologically and physiologically distinct neurons. Such a combinatorial code has been proposed for the differentiation of projection neurons of the somatic and visceral components of cranial nerves. It is possi
• PMID 26356988

Japanese Journal

• Vascularized subcutaneous human liver tissue from engineered hepatocyte/fibroblast sheets in mice

• Biomaterials 65, 66-75, 2015-10
• NAID 120005672449

• Activity of selected coagulation factors in overt and subclinical hypercortisolism

• Endocrine Journal 62(8), 687-694, 2015
• NAID 130005094621

• 第IX・XI・XII因子低下を伴う高齢者後天性血友病A

• 日本老年医学会雑誌 52(3), 285-290, 2015
• NAID 130005093069

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★リンクテーブル★

リンク元	「factor IX complex」
拡張検索	「blood coagulation factor IX」
関連記事	「I」「fact」「factor」「coagulation factor」

「factor IX complex」

　　[★]

• 第IX因子複合体

関

blood coagulation factor IX、coagulation factor IX、factor IX、PTC

同

human

「blood coagulation factor IX」

　　[★]

• 血液凝固第IX因子

関

coagulation factor IX、factor IX、factor IX complex、PTC

「I」

　　[★]

• イソロイシン isoleucine
• イノシン inosine
• 阻害剤 inhibitor
• iodine
• ヨード iodide
• I因子 factor I

　 　 　

「fact」

　　[★]

• n.

• 事実、現状、実際、実態

関

actual、actually、in fact、in practice、indeed、practically

　 　 　 　 　

「factor」

　　[★]

• n.

• 因子、要因、要素、ファクター

関

element、elementary、factorial、parameter

　 　 　 　 　 　 　

「coagulation factor」

　　[★] 血液凝固因子

同

coagulation factors