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Gene Model: F9

NomenclatureGenomic Location
SymbolF9Chromosome1
NameCoagulation factor IXLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 71 Mbp

Molecular Function

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 Ca2+ ions, phospholipids, and factor VIIIa.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding

catalytic activity
   hydrolase activity
      peptidase activity
         peptidase activity, acting on L-amino acid peptides
            endopeptidase activity
               serine-type endopeptidase activity
   serine hydrolase activity
      serine-type peptidase activity
         serine-type endopeptidase activity

Human Disease Association

Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) [MIM:306900]; also known as Christmas disease.

Note=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 peptide.

Defects in F9 are the cause of thrombophilia due to factor IX defect (THR-FIX) [MIM:300807]. A hemostatic disorder characterized by a tendency to thrombosis.

Predicted Transcript
     1 GTTTTTATCAATCCAGACGAGGCGAGTAATGTTTTGCAGCGATATAAAAGGTACAACACC
    61 GGGAGGCTGGAAGAATTTGTCCAAGGGAACTTGGAACGCGAATGCATGGAGGAAACATGC
   121 AACTACGAGGAAGCGAGAGAAGTCTTCGAGAACGAGGAGAAAACGATGGCATTTTGGAAG
   181 GTGTATCTTGATGGAGATCAGTGCTTATCAAACCCTTGCAAAAATGGAGGCCGGTGTGAA
   241 GATGATGTTAGTAACTACATTTGCTGGTGTCCAGCAGGTTATGAAGGAAGGAACTGTGAA
   301 TTAGATGCTACCTGCTCAACAAAGAACGGAGGGTGCAAGCAGTTTTGCAAGAACAATGAC
   361 GCTGGGATTGCCGTGTGTTCCTGTGCTCCTGGGTACAAACTCAAGGCCGACCAGAGAGGC
   421 TGTGAACCAACAGTGCCTTTTCCATGCGGAAAGATTACATCTCCCGAAGCCAAGAAAAAA
   481 CTCACCCGCTCTTCCATCACATTTGATAACTGGATCTCCACAAATGCCACCAGCGATGAC
   541 CTTGAAGGAGAAGGATCGGACAATACGACCCAGATTCAGTGGAAGGAAGCTTTCCGCAAC
   601 CGGGTCGTCGGAGGCACAGACAGCAAGAAAGGCGAAGTTCCCTGGCAGGTTTATTTGCTC
   661 GACAGTGAGAAGAGAGGGATCTGTGGAGGCTCCATCATCAATGAAAAGTGGATTGTCACA
   721 GCTGCGCACTGCCTGGAGTATGAGCCCCGCACTGTTGTGGCCGCAGGGGAACACAATGTG
   781 AATACCAAGGACCACACGGAACAATCCCGCGAAGTGGCAAGGGCAATCGCTCACCCGATG
   841 TACAACGAGAGCAACAAATACCACAACGACATTGCCCTCCTCGAGTTGGCATCTCCATTG
   901 GAGTTTAACCACTACGTCACCCCGATTTGCCTCGGGGACAAAGAGTTCACCAATAACCTC
   961 CTGAGGCACGGACTGGGCACCGTGAGCGGATGGGGCAAGTTGCACTACCAAGGGCGAGAG
  1021 GCCAGCATCCTCCAAGTCCTGACCGTCCAGTACATCGATCGGCCGACCTGTTTGAGGAGC
  1081 TCTCGGTACCCCATCTTGCCCAGTATGTTCTGCGCAGGTCAACCCGGTGAAGCCAAGGAC
  1141 ACCTGTCAAGGAGACAGTGGTGGACCGCATGCCACGGACATTGAGGACACGTGGTTCCTC
  1201 ACTGGGATCACCAGCTGGGGGGAACAATGTGCCAAGAAGGACAAATACGGCATCTACACC
  1261 AGGGTTGCGAGATACGTCAAATGGATACGAAATAGCACAAGGATCGTG

Predicted Protein Product
VFINPDEASNVLQRYKRYNTGRLEEFVQGNLERECMEETCNYEEAREVFENEEKTMAFWK
VYLDGDQCLSNPCKNGGRCEDDVSNYICWCPAGYEGRNCELDATCSTKNGGCKQFCKNND
AGIAVCSCAPGYKLKADQRGCEPTVPFPCGKITSPEAKKKLTRSSITFDNWISTNATSDD
LEGEGSDNTTQIQWKEAFRNRVVGGTDSKKGEVPWQVYLLDSEKRGICGGSIINEKWIVT
AAHCLEYEPRTVVAAGEHNVNTKDHTEQSREVARAIAHPMYNESNKYHNDIALLELASPL
EFNHYVTPICLGDKEFTNNLLRHGLGTVSGWGKLHYQGREASILQVLTVQYIDRPTCLRS
SRYPILPSMFCAGQPGEAKDTCQGDSGGPHATDIEDTWFLTGITSWGEQCAKKDKYGIYT
RVARYVKWIRNSTRIV
Protein Alignment to Mouse
sp|P16294|FA9_MOUSE Coagulation factor IX OS=Mus musculus GN=F9 PE=2 SV=3
      MGI:88384 F9 coagulation factor IX (Chr X)
        Length = 471

 Score = 1370 (487.3 bits), Expect = 1.0e-140, P = 1.0e-140
 Identities = 251/442 (56%), Positives = 319/442 (72%)

Query:     1 VFINPDEASNVLQRYKRYNTGRLEEFVQGNLERECMEETCNYEEAREVFENEEKTMAFWK 60
             VF++ + A+ +L R KRYN+G+LEEFV+GNLEREC+EE C++EEAREVFEN EKT  FWK
Sbjct:    30 VFLDRENATKILTRPKRYNSGKLEEFVRGNLERECIEERCSFEEAREVFENTEKTTEFWK 89

Query:    61 VYLDGDQCLSNPCKNGGRCEDDVSNYICWCPAGYEGRNCELDATCSTKNGGCKQFCKNND 120
              Y+DGDQC SNPC NGG C+DD+S+Y CWC  G+EGRNCELDATC+ KNG CKQFCKN+ 
Sbjct:    90 QYVDGDQCESNPCLNGGICKDDISSYECWCQVGFEGRNCELDATCNIKNGRCKQFCKNSP 149

Query:   121 AGIAVCSCAPGYKLKADQRGCEPTVPFPCGKITSPEAKKKLTRSSITFDNWISTNATS-- 178
                 +CSC  GY+L  DQ+ CEPTVPFPCG+ +   + KK+TR+   F N    N+T   
Sbjct:   150 DNKVICSCTEGYQLAEDQKSCEPTVPFPCGRASISYSSKKITRAETVFSNMDYENSTEAV 209

Query:   179 ---DDL-EGEGSDNTTQIQWKEAFRNRVVGGTDSKKGEVPWQVYLLDSEKRGICGGSIIN 234
                DD+ +G   +N T+         RVVGG ++K G++PWQV +L+ E    CGG+IIN
Sbjct:   210 FIQDDITDGAILNNVTESSESLNDFTRVVGGENAKPGQIPWQV-ILNGEIEAFCGGAIIN 268

Query:   235 EKWIVTAAHCLEYEPRTVVAAGEHNVNTKDHTEQSREVARAIAHPMYNES-NKYHNDIAL 293
             EKWIVTAAHCL+   +  V AGE+N++ K+ TEQ R V R I H  YN + NKY +DIAL
Sbjct:   269 EKWIVTAAHCLKPGDKIEVVAGEYNIDKKEDTEQRRNVIRTIPHHQYNATINKYSHDIAL 328

Query:   294 LELASPLEFNHYVTPICLGDKEFTNNLLRHGLGTVSGWGKLHYQGREASILQVLTVQYID 353
             LEL  PL  N YVTPIC+ ++E+TN  L+ G G VSGWGK+  +GR+ASILQ L V  +D
Sbjct:   329 LELDKPLILNSYVTPICVANREYTNIFLKFGSGYVSGWGKVFNKGRQASILQYLRVPLVD 388

Query:   354 RPTCLRSSRYPILPSMFCAGQPGEAKDTCQGDSGGPHATDIEDTWFLTGITSWGEQCAKK 413
             R TCLRS+ + I  +MFCAG     KD+C+GDSGGPH T++E T FLTGI SWGE+CA K
Sbjct:   389 RATCLRSTTFTIYNNMFCAGYREGGKDSCEGDSGGPHVTEVEGTSFLTGIISWGEECAMK 448

Query:   414 DKYGIYTRVARYVKWIRNSTRI 435
              KYGIYT+V+RYV WI+  T++
Sbjct:   449 GKYGIYTKVSRYVNWIKEKTKL 470