RBCC Red Blood Cell Collection

FA9_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: F9
Protein names and data: FA9_HUMAN , Coagulation factor IX; 3.4.21.22 , Christmas factor; Plasma thromboplastin component; PTC; Coagulation factor IXa light chain; Coagulation factor IXa heavy chain; Flags: Precursor Lenght: 461 a.a.
Mass: 51778 Da
fasta formatted sequence
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 Ca(2+) ions, phospholipids, and factor VIIIa.
Catalytic activity: Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa.
Disease: ( OMIM: 300746 300807 306900 ) Hemophilia B (HEMB) [MIM:306900]: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807]: A hemostatic disorder characterized by a tendency to thrombosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.
Tissue specificity: Synthesized primarily in the liver and secreted in plasma.

Genetic variants

7 - 7 I -> F (in dbSNP:rs150190385). VAR_006520 150190385
17 - 17 I -> N (in HEMB; severe; UK 22). VAR_006521
28 - 28 C -> R (in HEMB; moderate; HB130). VAR_006522
28 - 28 C -> Y (in HEMB). VAR_017343
30 - 30 V -> I (in HEMB). VAR_006523
37 - 37 A -> T (in warfarin sensitivity; reduced affinity of the glutamate carboxylase for the factor IX precursor). VAR_017307
43 - 43 R -> L (in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc.). VAR_006525
43 - 43 R -> Q (in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc.). VAR_006524
43 - 43 R -> W (in HEMB; severe; Boxtel, Heiden, Lienen, etc.). VAR_006526
45 - 45 K -> N (in HEMB; severe; Seattle E). VAR_006527
46 - 46 R -> S (in HEMB; severe; Cambridge). VAR_006528
46 - 46 R -> T (in HEMB; severe). VAR_006529
48 - 48 N -> I (in HEMB; severe; Calgary-16). VAR_006530
49 - 49 S -> P (in HEMB). VAR_006531
52 - 52 L -> S (in HEMB; severe; Gla mutant). VAR_017344
53 - 53 E -> A (in HEMB; severe; Oxford-B2; Gla mutant). VAR_006532
54 - 54 E -> G (in HEMB; severe; HB151; Gla mutant). VAR_006533
55 - 55 F -> C (in HEMB). VAR_006534
58 - 58 G -> A (in HEMB; severe; Hong Kong-1). VAR_006535
58 - 58 G -> R (in HEMB; severe; Los Angeles-4). VAR_006536
62 - 63 Missing (in HEMB; severe). VAR_006537
66 - 66 E -> V (in HEMB; moderate). VAR_006538
67 - 67 E -> K (in HEMB; severe; Nagoya-4; Gla mutant). VAR_006539
71 - 71 F -> S (in HEMB; severe). VAR_006540
73 - 73 E -> K (in HEMB; severe; Seattle-3; Gla mutant). VAR_006541
73 - 73 E -> V (in HEMB; severe; Chongqing; Gla mutant). VAR_006542
75 - 75 R -> Q (in HEMB; mild). VAR_017308
79 - 79 E -> D (in HEMB). VAR_017309
84 - 84 T -> R (in HEMB). VAR_017345
91 - 91 Y -> C (in HEMB; moderate). VAR_006543
93 - 93 D -> G (in HEMB; moderate; Alabama). VAR_006544
96 - 96 Q -> P (in HEMB; severe; New London). VAR_006545
97 - 97 C -> S (in HEMB). VAR_006546
101 - 101 P -> R (in HEMB). VAR_006547
102 - 102 C -> R (in HEMB; severe; Basel). VAR_006548
106 - 106 G -> D (in HEMB). VAR_017346
106 - 106 G -> S (in HEMB; mild; Durham). VAR_006549
108 - 108 C -> S (in HEMB). VAR_006550
110 - 110 D -> N (in HEMB; severe; Oxford-D1). VAR_006551
112 - 112 I -> S (in HEMB). VAR_006552
113 - 113 N -> K (in HEMB; mild). VAR_006553
115 - 115 Y -> C (in HEMB; severe). VAR_006554
119 - 119 C -> F (in HEMB; severe). VAR_006555
119 - 119 C -> R (in HEMB; Iran). VAR_006556
124 - 124 E -> K (in HEMB). VAR_017347
125 - 125 G -> E (in HEMB). VAR_006557
125 - 125 G -> R (in HEMB). VAR_017348
125 - 125 G -> V (in HEMB). VAR_006558
129 - 130 Missing (in HEMB). VAR_006559
134 - 134 C -> Y (in HEMB). VAR_017349
136 - 136 I -> T (in HEMB; mild). VAR_006560
139 - 139 G -> D (in HEMB; severe). VAR_006561
139 - 139 G -> S (in HEMB). VAR_006562
155 - 155 C -> F (in HEMB; severe). VAR_006563
160 - 160 G -> E (in HEMB; mild). VAR_006564
167 - 167 Q -> H (in HEMB; mild). VAR_006565
169 - 169 S -> C (in HEMB). VAR_017350
170 - 170 C -> F (in HEMB). VAR_017351
178 - 178 C -> R (in HEMB). VAR_006566
178 - 178 C -> W (in HEMB; severe). VAR_006567
191 - 191 R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.). VAR_006569
191 - 191 R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.). VAR_006568
194 - 194 T -> A (in dbSNP:rs6048). VAR_011773 6048
226 - 226 R -> G (in HEMB; severe; Madrid). VAR_006571
226 - 226 R -> Q (in HEMB; severe; Hilo and Novara). VAR_006572
226 - 226 R -> W (in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.). VAR_006570
227 - 227 V -> D (in HEMB; mild). VAR_006573
227 - 227 V -> F (in HEMB; Milano). VAR_017310
228 - 228 V -> F (in HEMB; severe; Kashihara). VAR_017311
228 - 228 V -> L (in HEMB; mild; Cardiff-2). VAR_006574
241 - 241 Q -> H (in HEMB). VAR_006575
241 - 241 Q -> K (in HEMB). VAR_017352
252 - 252 C -> S (in HEMB; severe; this is the mutation in the index case of the disease, Stephen Christmas). VAR_017312
252 - 252 C -> Y (in HEMB). VAR_017353
253 - 253 G -> E (in HEMB; severe). VAR_006576
253 - 253 G -> R (in HEMB; severe; Luanda). VAR_006577
265 - 265 A -> T (in HEMB; mild). VAR_006578
268 - 268 C -> W (in HEMB; moderate). VAR_017313
279 - 279 A -> T (in HEMB; mild). VAR_006579
283 - 283 N -> D (in HEMB; severe). VAR_006580
286 - 286 Missing (in HEMB; severe). VAR_006581
291 - 291 E -> V (in HEMB; Monschau). VAR_017314
294 - 294 R -> G (in HEMB; severe). VAR_006582
294 - 294 R -> Q (in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4). VAR_006583
302 - 302 H -> R (in HEMB). VAR_006584
306 - 306 N -> S (in HEMB; mild). VAR_017315
316 - 316 I -> F (in HEMB). VAR_006585
318 - 318 L -> R (in HEMB). VAR_017354
321 - 321 L -> Q (in HEMB; severe). VAR_006586
333 - 333 P -> H (in HEMB; severe). VAR_006587
333 - 333 P -> T (in HEMB). VAR_017355
342 - 342 T -> K (in HEMB; mild). VAR_006588
342 - 342 T -> M (in HEMB; moderate). VAR_006589
344 - 344 I -> L (in HEMB). VAR_017356
351 - 351 G -> D (in HEMB). VAR_006590
356 - 356 W -> C (in HEMB; severe). VAR_006591
357 - 357 G -> E (in HEMB; severe; Amagasaki). VAR_006592
357 - 357 G -> R (in HEMB). VAR_017316
362 - 362 K -> E (in HEMB; moderate). VAR_006593
363 - 363 G -> W (in HEMB). VAR_006594
366 - 366 A -> D (in HEMB). VAR_006595
379 - 379 R -> G (in HEMB; moderate). VAR_006596
379 - 379 R -> Q (in HEMB; severe; Iceland-1, London and Sesimbra). VAR_006597
382 - 382 C -> Y (in HEMB). VAR_006598
383 - 383 L -> F (in HEMB). VAR_017358
383 - 383 L -> I (in HEMB). VAR_017357
384 - 384 R -> L (in THPH8; factor IX Padua; higher specific activity than wild-type). VAR_062999
387 - 387 K -> E (in HEMB; mild). VAR_006599
390 - 390 I -> F (in HEMB; severe). VAR_006600
394 - 394 M -> K (in HEMB). VAR_006601
395 - 395 F -> I (in HEMB). VAR_017359
395 - 395 F -> L (in HEMB). VAR_017360
396 - 396 C -> F (in HEMB). VAR_017361
396 - 396 C -> S (in HEMB; severe). VAR_006602
397 - 397 A -> P (in HEMB; mild; Hong Kong-11). VAR_017317
404 - 404 R -> T (in HEMB). VAR_006603
407 - 407 C -> R (in HEMB). VAR_017362
407 - 407 C -> S (in HEMB; severe). VAR_006604
410 - 410 D -> H (in HEMB; Mechtal). VAR_017318
411 - 411 S -> G (in HEMB; Varel). VAR_017320
411 - 411 S -> I (in HEMB; Schmallenberg). VAR_017319
412 - 412 G -> E (in HEMB). VAR_017363
413 - 413 G -> R (in HEMB; moderate to severe). VAR_006605
414 - 414 P -> T (in HEMB; Bergamo). VAR_017321
419 - 419 V -> E (in HEMB; moderately severe). VAR_006606
424 - 424 F -> V (in HEMB). VAR_006607
426 - 426 T -> P (in HEMB; severe; Barcelos). VAR_006608
430 - 430 S -> T (in HEMB). VAR_006609
431 - 431 W -> G (in HEMB). VAR_006610
431 - 431 W -> R (in HEMB; moderate). VAR_006611
432 - 432 G -> S (in HEMB; severe). VAR_006612
432 - 432 G -> V (in HEMB; severe). VAR_006613
433 - 433 E -> A (in HEMB). VAR_006614
433 - 433 E -> K (in HEMB). VAR_006615
435 - 435 C -> Y (in HEMB). VAR_017364
436 - 436 A -> V (in HEMB; moderately severe; Niigata). VAR_006616
442 - 442 G -> E (in HEMB). VAR_017365
442 - 442 G -> R (in HEMB; severe; Angers). VAR_017322
443 - 443 I -> T (in HEMB; moderately severe; Long Beach, Los Angeles and Vancouver). VAR_017323
445 - 445 T -> TIYT (in HEMB; severe; Lousada). VAR_006617
449 - 449 R -> Q (in HEMB; mild). VAR_006618
449 - 449 R -> W (in HEMB; mild). VAR_006619
450 - 450 Y -> C (in HEMB; severe). VAR_006620
453 - 453 W -> R (in HEMB). VAR_017324
454 - 454 I -> T (in HEMB; Italy). VAR_006621
461 - 461 T -> P (in dbSNP:rs4149751). VAR_014308 4149751

Database cross-references

UniProt: P00740
Ensembl: ENST00000218099
Ensembl: ENST00000394090
MIM: 300746
MIM: 300807
MIM: 306900
neXtProt: NX_P00740
Antibodypedia: P00740 (may not find the protein thus also not any antibody)
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