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P00740

- FA9_HUMAN

UniProt

P00740 - FA9_HUMAN

Protein

Coagulation factor IX

Gene

F9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 207 (01 Oct 2014)
      Sequence version 2 (07 Jun 2005)
      Previous versions | rss
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    Functioni

    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.

    Catalytic activityi

    Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei191 – 1922Cleavage; by factor XIa
    Sitei226 – 2272Cleavage; by factor XIa
    Active sitei267 – 2671Charge relay system1 Publication
    Active sitei315 – 3151Charge relay system1 Publication
    Active sitei411 – 4111Charge relay system1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. serine-type endopeptidase activity Source: ProtInc

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. blood coagulation, extrinsic pathway Source: Reactome
    3. blood coagulation, intrinsic pathway Source: Reactome
    4. cellular protein metabolic process Source: Reactome
    5. peptidyl-glutamic acid carboxylation Source: Reactome
    6. post-translational protein modification Source: Reactome
    7. proteolysis Source: Reactome

    Keywords - Molecular functioni

    Hydrolase, Protease, Serine protease

    Keywords - Biological processi

    Blood coagulation, Hemostasis

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_1050. Gamma-carboxylation of protein precursors.
    REACT_1573. Extrinsic Pathway.
    REACT_1906. Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus.
    REACT_326. Intrinsic Pathway.
    REACT_733. Removal of aminoterminal propeptides from gamma-carboxylated proteins.
    SABIO-RKP00740.

    Protein family/group databases

    MEROPSiS01.214.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coagulation factor IX (EC:3.4.21.22)
    Alternative name(s):
    Christmas factor
    Plasma thromboplastin component
    Short name:
    PTC
    Cleaved into the following 2 chains:
    Gene namesi
    Name:F9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:3551. F9.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum lumen Source: Reactome
    2. extracellular region Source: UniProtKB
    3. Golgi lumen Source: Reactome
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.35 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171I → N in HEMB; severe; UK 22.
    VAR_006521
    Natural varianti28 – 281C → R in HEMB; moderate; HB130.
    VAR_006522
    Natural varianti28 – 281C → Y in HEMB. 1 Publication
    VAR_017343
    Natural varianti30 – 301V → I in HEMB.
    VAR_006523
    Natural varianti43 – 431R → L in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc.. 1 Publication
    VAR_006525
    Natural varianti43 – 431R → Q in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc.. 5 Publications
    VAR_006524
    Natural varianti43 – 431R → W in HEMB; severe; Boxtel, Heiden, Lienen, etc.. 2 Publications
    VAR_006526
    Natural varianti45 – 451K → N in HEMB; severe; Seattle E.
    VAR_006527
    Natural varianti46 – 461R → S in HEMB; severe; Cambridge.
    VAR_006528
    Natural varianti46 – 461R → T in HEMB; severe. 1 Publication
    VAR_006529
    Natural varianti48 – 481N → I in HEMB; severe; Calgary-16.
    VAR_006530
    Natural varianti49 – 491S → P in HEMB.
    VAR_006531
    Natural varianti52 – 521L → S in HEMB; severe; Gla mutant. 1 Publication
    VAR_017344
    Natural varianti53 – 531E → A in HEMB; severe; Oxford-B2; Gla mutant.
    VAR_006532
    Natural varianti54 – 541E → G in HEMB; severe; HB151; Gla mutant.
    VAR_006533
    Natural varianti55 – 551F → C in HEMB.
    VAR_006534
    Natural varianti58 – 581G → A in HEMB; severe; Hong Kong-1.
    VAR_006535
    Natural varianti58 – 581G → R in HEMB; severe; Los Angeles-4.
    VAR_006536
    Natural varianti62 – 632Missing in HEMB; severe.
    VAR_006537
    Natural varianti66 – 661E → V in HEMB; moderate.
    VAR_006538
    Natural varianti67 – 671E → K in HEMB; severe; Nagoya-4; Gla mutant.
    VAR_006539
    Natural varianti71 – 711F → S in HEMB; severe.
    VAR_006540
    Natural varianti73 – 731E → K in HEMB; severe; Seattle-3; Gla mutant. 1 Publication
    VAR_006541
    Natural varianti73 – 731E → V in HEMB; severe; Chongqing; Gla mutant. 1 Publication
    VAR_006542
    Natural varianti75 – 751R → Q in HEMB; mild. 1 Publication
    VAR_017308
    Natural varianti79 – 791E → D in HEMB. 1 Publication
    VAR_017309
    Natural varianti84 – 841T → R in HEMB. 1 Publication
    VAR_017345
    Natural varianti91 – 911Y → C in HEMB; moderate.
    VAR_006543
    Natural varianti93 – 931D → G in HEMB; moderate; Alabama. 1 Publication
    VAR_006544
    Natural varianti96 – 961Q → P in HEMB; severe; New London.
    VAR_006545
    Natural varianti97 – 971C → S in HEMB.
    VAR_006546
    Natural varianti101 – 1011P → R in HEMB.
    VAR_006547
    Natural varianti102 – 1021C → R in HEMB; severe; Basel.
    VAR_006548
    Natural varianti106 – 1061G → D in HEMB. 1 Publication
    VAR_017346
    Natural varianti106 – 1061G → S in HEMB; mild; Durham. 2 Publications
    VAR_006549
    Natural varianti108 – 1081C → S in HEMB.
    VAR_006550
    Natural varianti110 – 1101D → N in HEMB; severe; Oxford-D1.
    VAR_006551
    Natural varianti112 – 1121I → S in HEMB.
    VAR_006552
    Natural varianti113 – 1131N → K in HEMB; mild. 1 Publication
    VAR_006553
    Natural varianti115 – 1151Y → C in HEMB; severe. 1 Publication
    VAR_006554
    Natural varianti119 – 1191C → F in HEMB; severe.
    VAR_006555
    Natural varianti119 – 1191C → R in HEMB; Iran. 1 Publication
    VAR_006556
    Natural varianti124 – 1241E → K in HEMB. 1 Publication
    VAR_017347
    Natural varianti125 – 1251G → E in HEMB.
    VAR_006557
    Natural varianti125 – 1251G → R in HEMB. 1 Publication
    VAR_017348
    Natural varianti125 – 1251G → V in HEMB. 1 Publication
    VAR_006558
    Natural varianti129 – 1302Missing in HEMB.
    VAR_006559
    Natural varianti134 – 1341C → Y in HEMB. 1 Publication
    VAR_017349
    Natural varianti136 – 1361I → T in HEMB; mild.
    VAR_006560
    Natural varianti139 – 1391G → D in HEMB; severe.
    VAR_006561
    Natural varianti139 – 1391G → S in HEMB.
    VAR_006562
    Natural varianti155 – 1551C → F in HEMB; severe. 1 Publication
    VAR_006563
    Natural varianti160 – 1601G → E in HEMB; mild.
    VAR_006564
    Natural varianti167 – 1671Q → H in HEMB; mild.
    VAR_006565
    Natural varianti169 – 1691S → C in HEMB. 1 Publication
    VAR_017350
    Natural varianti170 – 1701C → F in HEMB. 1 Publication
    VAR_017351
    Natural varianti178 – 1781C → R in HEMB.
    VAR_006566
    Natural varianti178 – 1781C → W in HEMB; severe.
    VAR_006567
    Natural varianti191 – 1911R → C in HEMB; moderate; Albuquerque, Cardiff-1, etc.. 1 Publication
    VAR_006569
    Natural varianti191 – 1911R → H in HEMB; moderate; Chapel-Hill, Chicago-2, etc.. 2 Publications
    VAR_006568
    Natural varianti226 – 2261R → G in HEMB; severe; Madrid. 2 Publications
    VAR_006571
    Natural varianti226 – 2261R → Q in HEMB; severe; Hilo and Novara. 3 Publications
    VAR_006572
    Natural varianti226 – 2261R → W in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.. 3 Publications
    VAR_006570
    Natural varianti227 – 2271V → D in HEMB; mild.
    VAR_006573
    Natural varianti227 – 2271V → F in HEMB; Milano. 1 Publication
    VAR_017310
    Natural varianti228 – 2281V → F in HEMB; severe; Kashihara. 1 Publication
    VAR_017311
    Natural varianti228 – 2281V → L in HEMB; mild; Cardiff-2. 1 Publication
    VAR_006574
    Natural varianti241 – 2411Q → H in HEMB.
    VAR_006575
    Natural varianti241 – 2411Q → K in HEMB. 1 Publication
    VAR_017352
    Natural varianti252 – 2521C → S in HEMB; severe. 1 Publication
    VAR_017312
    Natural varianti252 – 2521C → Y in HEMB. 1 Publication
    VAR_017353
    Natural varianti253 – 2531G → E in HEMB; severe.
    VAR_006576
    Natural varianti253 – 2531G → R in HEMB; severe; Luanda. 1 Publication
    VAR_006577
    Natural varianti265 – 2651A → T in HEMB; mild.
    VAR_006578
    Natural varianti268 – 2681C → W in HEMB; moderate. 1 Publication
    VAR_017313
    Natural varianti279 – 2791A → T in HEMB; mild. 2 Publications
    VAR_006579
    Natural varianti283 – 2831N → D in HEMB; severe.
    VAR_006580
    Natural varianti286 – 2861Missing in HEMB; severe.
    VAR_006581
    Natural varianti291 – 2911E → V in HEMB; Monschau. 1 Publication
    VAR_017314
    Natural varianti294 – 2941R → G in HEMB; severe.
    VAR_006582
    Natural varianti294 – 2941R → Q in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4. 5 Publications
    VAR_006583
    Natural varianti302 – 3021H → R in HEMB. 1 Publication
    VAR_006584
    Natural varianti306 – 3061N → S in HEMB; mild. 1 Publication
    VAR_017315
    Natural varianti316 – 3161I → F in HEMB. 1 Publication
    VAR_006585
    Natural varianti318 – 3181L → R in HEMB. 1 Publication
    VAR_017354
    Natural varianti321 – 3211L → Q in HEMB; severe.
    VAR_006586
    Natural varianti333 – 3331P → H in HEMB; severe.
    VAR_006587
    Natural varianti333 – 3331P → T in HEMB. 1 Publication
    VAR_017355
    Natural varianti342 – 3421T → K in HEMB; mild.
    VAR_006588
    Natural varianti342 – 3421T → M in HEMB; moderate. 3 Publications
    VAR_006589
    Natural varianti344 – 3441I → L in HEMB. 1 Publication
    VAR_017356
    Natural varianti351 – 3511G → D in HEMB.
    VAR_006590
    Natural varianti356 – 3561W → C in HEMB; severe.
    VAR_006591
    Natural varianti357 – 3571G → E in HEMB; severe; Amagasaki. 1 Publication
    VAR_006592
    Natural varianti357 – 3571G → R in HEMB. 1 Publication
    VAR_017316
    Natural varianti362 – 3621K → E in HEMB; moderate.
    VAR_006593
    Natural varianti363 – 3631G → W in HEMB.
    VAR_006594
    Natural varianti366 – 3661A → D in HEMB.
    VAR_006595
    Natural varianti379 – 3791R → G in HEMB; moderate. 1 Publication
    VAR_006596
    Natural varianti379 – 3791R → Q in HEMB; severe; Iceland-1, London and Sesimbra. 3 Publications
    VAR_006597
    Natural varianti382 – 3821C → Y in HEMB.
    VAR_006598
    Natural varianti383 – 3831L → F in HEMB. 1 Publication
    VAR_017358
    Natural varianti383 – 3831L → I in HEMB. 1 Publication
    VAR_017357
    Natural varianti387 – 3871K → E in HEMB; mild. 1 Publication
    VAR_006599
    Natural varianti390 – 3901I → F in HEMB; severe.
    VAR_006600
    Natural varianti394 – 3941M → K in HEMB.
    VAR_006601
    Natural varianti395 – 3951F → I in HEMB. 1 Publication
    VAR_017359
    Natural varianti395 – 3951F → L in HEMB. 1 Publication
    VAR_017360
    Natural varianti396 – 3961C → F in HEMB. 1 Publication
    VAR_017361
    Natural varianti396 – 3961C → S in HEMB; severe.
    VAR_006602
    Natural varianti397 – 3971A → P in HEMB; mild; Hong Kong-11. 1 Publication
    VAR_017317
    Natural varianti404 – 4041R → T in HEMB.
    VAR_006603
    Natural varianti407 – 4071C → R in HEMB. 1 Publication
    VAR_017362
    Natural varianti407 – 4071C → S in HEMB; severe.
    VAR_006604
    Natural varianti410 – 4101D → H in HEMB; Mechtal. 1 Publication
    VAR_017318
    Natural varianti411 – 4111S → G in HEMB; Varel. 1 Publication
    VAR_017320
    Natural varianti411 – 4111S → I in HEMB; Schmallenberg. 1 Publication
    VAR_017319
    Natural varianti412 – 4121G → E in HEMB. 1 Publication
    VAR_017363
    Natural varianti413 – 4131G → R in HEMB; moderate to severe. 2 Publications
    VAR_006605
    Natural varianti414 – 4141P → T in HEMB; Bergamo. 2 Publications
    VAR_017321
    Natural varianti419 – 4191V → E in HEMB; moderately severe. 2 Publications
    VAR_006606
    Natural varianti424 – 4241F → V in HEMB. 1 Publication
    VAR_006607
    Natural varianti426 – 4261T → P in HEMB; severe; Barcelos. 1 Publication
    VAR_006608
    Natural varianti430 – 4301S → T in HEMB.
    VAR_006609
    Natural varianti431 – 4311W → G in HEMB.
    VAR_006610
    Natural varianti431 – 4311W → R in HEMB; moderate.
    VAR_006611
    Natural varianti432 – 4321G → S in HEMB; severe.
    VAR_006612
    Natural varianti432 – 4321G → V in HEMB; severe. 1 Publication
    VAR_006613
    Natural varianti433 – 4331E → A in HEMB.
    VAR_006614
    Natural varianti433 – 4331E → K in HEMB.
    VAR_006615
    Natural varianti435 – 4351C → Y in HEMB. 1 Publication
    VAR_017364
    Natural varianti436 – 4361A → V in HEMB; moderately severe; Niigata. 1 Publication
    VAR_006616
    Natural varianti442 – 4421G → E in HEMB. 1 Publication
    VAR_017365
    Natural varianti442 – 4421G → R in HEMB; severe; Angers. 1 Publication
    VAR_017322
    Natural varianti443 – 4431I → T in HEMB; moderately severe; Long Beach, Los Angeles and Vancouver. 2 Publications
    VAR_017323
    Natural varianti445 – 4451T → TIYT in HEMB; severe; Lousada.
    VAR_006617
    Natural varianti449 – 4491R → Q in HEMB; mild. 1 Publication
    VAR_006618
    Natural varianti449 – 4491R → W in HEMB; mild. 1 Publication
    VAR_006619
    Natural varianti450 – 4501Y → C in HEMB; severe. 1 Publication
    VAR_006620
    Natural varianti453 – 4531W → R in HEMB. 1 Publication
    VAR_017324
    Natural varianti454 – 4541I → T in HEMB; Italy. 1 Publication
    VAR_006621
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti384 – 3841R → L in THPH8; factor IX Padua; higher specific activity than wild-type. 1 Publication
    VAR_062999

    Pharmaceutical usei

    Available under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B.

    Keywords - Diseasei

    Disease mutation, Hemophilia, Thrombophilia

    Organism-specific databases

    MIMi300807. phenotype.
    306900. phenotype.
    Orphaneti169799. Mild hemophilia B.
    169796. Moderately severe hemophilia B.
    169793. Severe hemophilia B.
    177929. Symptomatic form of hemophilia B in female carriers.
    PharmGKBiPA27954.

    Protein family/group databases

    Allergomei9616. Hom s Factor IX.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Sequence AnalysisAdd
    BLAST
    Propeptidei29 – 46181 PublicationPRO_0000027755Add
    BLAST
    Chaini47 – 461415Coagulation factor IXPRO_0000027756Add
    BLAST
    Chaini47 – 191145Coagulation factor IXa light chainPRO_0000027757Add
    BLAST
    Propeptidei192 – 22635Activation peptidePRO_0000027758Add
    BLAST
    Chaini227 – 461235Coagulation factor IXa heavy chainPRO_0000027759Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei53 – 5314-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei54 – 5414-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei61 – 6114-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei63 – 6314-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Disulfide bondi64 ↔ 69
    Modified residuei66 – 6614-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei67 – 6714-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei72 – 7214-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei73 – 7314-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei76 – 7614-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei79 – 7914-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei82 – 8214-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Modified residuei86 – 8614-carboxyglutamate1 PublicationPROSITE-ProRule annotation
    Disulfide bondi97 ↔ 108
    Glycosylationi99 – 991O-linked (Glc...); alternate1 PublicationCAR_000009
    Glycosylationi99 – 991O-linked (Xyl...); alternate1 Publication
    Disulfide bondi102 ↔ 117
    Glycosylationi107 – 1071O-linked (Fuc...)CAR_000010
    Modified residuei110 – 1101(3R)-3-hydroxyaspartate2 Publications
    Modified residuei114 – 1141Phosphoserine1 Publication
    Disulfide bondi119 ↔ 128
    Disulfide bondi134 ↔ 145
    Disulfide bondi141 ↔ 155
    Disulfide bondi157 ↔ 170
    Disulfide bondi178 ↔ 335
    Modified residuei201 – 2011Sulfotyrosine1 Publication
    Glycosylationi203 – 2031N-linked (GlcNAc...)1 Publication
    Modified residuei204 – 2041Phosphoserine1 Publication
    Glycosylationi205 – 2051O-linked (GalNAc...)1 Publication
    Glycosylationi213 – 2131N-linked (GlcNAc...)1 Publication
    Glycosylationi215 – 2151O-linked (GalNAc...)1 Publication
    Disulfide bondi252 ↔ 268
    Disulfide bondi382 ↔ 396
    Disulfide bondi407 ↔ 435

    Post-translational modificationi

    Activated by factor XIa, which excises the activation peptide.
    The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.2 Publications
    Predominantly O-glucosylated at Ser-99 by POGLUT1 in vitro. Xylosylation at this site is minor.

    Keywords - PTMi

    Cleavage on pair of basic residues, Disulfide bond, Gamma-carboxyglutamic acid, Glycoprotein, Hydroxylation, Phosphoprotein, Sulfation, Zymogen

    Proteomic databases

    PaxDbiP00740.
    PeptideAtlasiP00740.
    PRIDEiP00740.

    PTM databases

    PhosphoSiteiP00740.
    UniCarbKBiP00740.

    Miscellaneous databases

    PMAP-CutDBP00740.

    Expressioni

    Tissue specificityi

    Synthesized primarily in the liver and secreted in plasma.

    Gene expression databases

    ArrayExpressiP00740.
    BgeeiP00740.
    CleanExiHS_F9.
    GenevestigatoriP00740.

    Interactioni

    Subunit structurei

    Heterodimer of a light chain and a heavy chain; disulfide-linked.

    Protein-protein interaction databases

    BioGridi108456. 1 interaction.
    DIPiDIP-58520N.
    IntActiP00740. 1 interaction.
    STRINGi9606.ENSP00000218099.

    Structurei

    Secondary structure

    1
    461
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi50 – 523
    Helixi60 – 645
    Beta strandi65 – 673
    Helixi71 – 755
    Beta strandi78 – 803
    Helixi81 – 9010
    Turni96 – 994
    Beta strandi107 – 1115
    Beta strandi114 – 1185
    Turni125 – 1284
    Turni134 – 1363
    Helixi137 – 1404
    Beta strandi142 – 1476
    Beta strandi149 – 1513
    Beta strandi153 – 1564
    Beta strandi161 – 1633
    Beta strandi165 – 1684
    Beta strandi170 – 1767
    Beta strandi187 – 1893
    Beta strandi241 – 2488
    Beta strandi252 – 2587
    Beta strandi261 – 2644
    Helixi266 – 2683
    Beta strandi271 – 2733
    Beta strandi276 – 2805
    Beta strandi282 – 2865
    Beta strandi292 – 30110
    Turni303 – 3064
    Beta strandi307 – 3104
    Turni311 – 3144
    Beta strandi317 – 3237
    Helixi339 – 3479
    Beta strandi350 – 36011
    Beta strandi370 – 3778
    Helixi379 – 3846
    Beta strandi394 – 3985
    Beta strandi414 – 4196
    Beta strandi422 – 43110
    Beta strandi433 – 4364
    Beta strandi442 – 4465
    Helixi447 – 4504
    Helixi451 – 4577

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1CFHNMR-A47-93[»]
    1CFINMR-A47-93[»]
    1EDMX-ray1.50B/C92-130[»]
    1IXANMR-A92-130[»]
    1MGXNMR-A47-93[»]
    1NL0X-ray2.20G47-91[»]
    1RFNX-ray2.80A227-461[»]
    B133-188[»]
    2WPHX-ray1.50E133-191[»]
    S227-461[»]
    2WPIX-ray1.99E133-191[»]
    S227-461[»]
    2WPJX-ray1.60E133-191[»]
    S227-461[»]
    2WPKX-ray2.21E133-191[»]
    S227-461[»]
    2WPLX-ray1.82E133-191[»]
    S227-461[»]
    2WPMX-ray2.00E133-191[»]
    S227-461[»]
    3KCGX-ray1.70H227-461[»]
    L131-188[»]
    3LC3X-ray1.90A/C227-461[»]
    B/D133-188[»]
    3LC5X-ray2.62A227-461[»]
    B133-188[»]
    ProteinModelPortaliP00740.
    SMRiP00740. Positions 47-191, 227-461.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP00740.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini47 – 9246GlaPROSITE-ProRule annotationAdd
    BLAST
    Domaini93 – 12937EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini130 – 17142EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini227 – 459233Peptidase S1PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domain.

    Sequence similaritiesi

    Belongs to the peptidase S1 family.PROSITE-ProRule annotation
    Contains 2 EGF-like domains.PROSITE-ProRule annotation
    Contains 1 Gla (gamma-carboxy-glutamate) domain.PROSITE-ProRule annotation
    Contains 1 peptidase S1 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiCOG5640.
    HOGENOMiHOG000251821.
    HOVERGENiHBG013304.
    InParanoidiP00740.
    KOiK01321.
    OMAiSAECTVF.
    OrthoDBiEOG75B84T.
    PhylomeDBiP00740.
    TreeFamiTF327329.

    Family and domain databases

    Gene3Di4.10.740.10. 1 hit.
    InterProiIPR017857. Coagulation_fac_subgr_Gla_dom.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR000294. GLA_domain.
    IPR012224. Pept_S1A_FX.
    IPR001254. Peptidase_S1.
    IPR018114. Peptidase_S1_AS.
    IPR001314. Peptidase_S1A.
    IPR009003. Trypsin-like_Pept_dom.
    [Graphical view]
    PfamiPF00008. EGF. 1 hit.
    PF00594. Gla. 1 hit.
    PF00089. Trypsin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001143. Factor_X. 1 hit.
    PRINTSiPR00722. CHYMOTRYPSIN.
    PR00001. GLABLOOD.
    SMARTiSM00181. EGF. 1 hit.
    SM00179. EGF_CA. 1 hit.
    SM00069. GLA. 1 hit.
    SM00020. Tryp_SPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF50494. SSF50494. 1 hit.
    SSF57630. SSF57630. 1 hit.
    PROSITEiPS00010. ASX_HYDROXYL. 1 hit.
    PS00022. EGF_1. 1 hit.
    PS01186. EGF_2. 2 hits.
    PS50026. EGF_3. 1 hit.
    PS01187. EGF_CA. 1 hit.
    PS00011. GLA_1. 1 hit.
    PS50998. GLA_2. 1 hit.
    PS50240. TRYPSIN_DOM. 1 hit.
    PS00134. TRYPSIN_HIS. 1 hit.
    PS00135. TRYPSIN_SER. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P00740-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQRVNMIMAE SPGLITICLL GYLLSAECTV FLDHENANKI LNRPKRYNSG    50
    KLEEFVQGNL ERECMEEKCS FEEAREVFEN TERTTEFWKQ YVDGDQCESN 100
    PCLNGGSCKD DINSYECWCP FGFEGKNCEL DVTCNIKNGR CEQFCKNSAD 150
    NKVVCSCTEG YRLAENQKSC EPAVPFPCGR VSVSQTSKLT RAETVFPDVD 200
    YVNSTEAETI LDNITQSTQS FNDFTRVVGG EDAKPGQFPW QVVLNGKVDA 250
    FCGGSIVNEK WIVTAAHCVE TGVKITVVAG EHNIEETEHT EQKRNVIRII 300
    PHHNYNAAIN KYNHDIALLE LDEPLVLNSY VTPICIADKE YTNIFLKFGS 350
    GYVSGWGRVF HKGRSALVLQ YLRVPLVDRA TCLRSTKFTI YNNMFCAGFH 400
    EGGRDSCQGD SGGPHVTEVE GTSFLTGIIS WGEECAMKGK YGIYTKVSRY 450
    VNWIKEKTKL T 461
    Length:461
    Mass (Da):51,778
    Last modified:June 7, 2005 - v2
    Checksum:iC4720C1234477EF5
    GO
    Isoform 2 (identifier: P00740-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         93-130: Missing.

    Show »
    Length:423
    Mass (Da):47,618
    Checksum:i2556B3F27FB23A77
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71I → F.1 Publication
    Corresponds to variant rs150190385 [ dbSNP | Ensembl ].
    VAR_006520
    Natural varianti17 – 171I → N in HEMB; severe; UK 22.
    VAR_006521
    Natural varianti28 – 281C → R in HEMB; moderate; HB130.
    VAR_006522
    Natural varianti28 – 281C → Y in HEMB. 1 Publication
    VAR_017343
    Natural varianti30 – 301V → I in HEMB.
    VAR_006523
    Natural varianti37 – 371A → T in warfarin sensitivity; reduced affinity of the glutamate carboxylase for the factor IX precursor. 1 Publication
    VAR_017307
    Natural varianti43 – 431R → L in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc.. 1 Publication
    VAR_006525
    Natural varianti43 – 431R → Q in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc.. 5 Publications
    VAR_006524
    Natural varianti43 – 431R → W in HEMB; severe; Boxtel, Heiden, Lienen, etc.. 2 Publications
    VAR_006526
    Natural varianti45 – 451K → N in HEMB; severe; Seattle E.
    VAR_006527
    Natural varianti46 – 461R → S in HEMB; severe; Cambridge.
    VAR_006528
    Natural varianti46 – 461R → T in HEMB; severe. 1 Publication
    VAR_006529
    Natural varianti48 – 481N → I in HEMB; severe; Calgary-16.
    VAR_006530
    Natural varianti49 – 491S → P in HEMB.
    VAR_006531
    Natural varianti52 – 521L → S in HEMB; severe; Gla mutant. 1 Publication
    VAR_017344
    Natural varianti53 – 531E → A in HEMB; severe; Oxford-B2; Gla mutant.
    VAR_006532
    Natural varianti54 – 541E → G in HEMB; severe; HB151; Gla mutant.
    VAR_006533
    Natural varianti55 – 551F → C in HEMB.
    VAR_006534
    Natural varianti58 – 581G → A in HEMB; severe; Hong Kong-1.
    VAR_006535
    Natural varianti58 – 581G → R in HEMB; severe; Los Angeles-4.
    VAR_006536
    Natural varianti62 – 632Missing in HEMB; severe.
    VAR_006537
    Natural varianti66 – 661E → V in HEMB; moderate.
    VAR_006538
    Natural varianti67 – 671E → K in HEMB; severe; Nagoya-4; Gla mutant.
    VAR_006539
    Natural varianti71 – 711F → S in HEMB; severe.
    VAR_006540
    Natural varianti73 – 731E → K in HEMB; severe; Seattle-3; Gla mutant. 1 Publication
    VAR_006541
    Natural varianti73 – 731E → V in HEMB; severe; Chongqing; Gla mutant. 1 Publication
    VAR_006542
    Natural varianti75 – 751R → Q in HEMB; mild. 1 Publication
    VAR_017308
    Natural varianti79 – 791E → D in HEMB. 1 Publication
    VAR_017309
    Natural varianti84 – 841T → R in HEMB. 1 Publication
    VAR_017345
    Natural varianti91 – 911Y → C in HEMB; moderate.
    VAR_006543
    Natural varianti93 – 931D → G in HEMB; moderate; Alabama. 1 Publication
    VAR_006544
    Natural varianti96 – 961Q → P in HEMB; severe; New London.
    VAR_006545
    Natural varianti97 – 971C → S in HEMB.
    VAR_006546
    Natural varianti101 – 1011P → R in HEMB.
    VAR_006547
    Natural varianti102 – 1021C → R in HEMB; severe; Basel.
    VAR_006548
    Natural varianti106 – 1061G → D in HEMB. 1 Publication
    VAR_017346
    Natural varianti106 – 1061G → S in HEMB; mild; Durham. 2 Publications
    VAR_006549
    Natural varianti108 – 1081C → S in HEMB.
    VAR_006550
    Natural varianti110 – 1101D → N in HEMB; severe; Oxford-D1.
    VAR_006551
    Natural varianti112 – 1121I → S in HEMB.
    VAR_006552
    Natural varianti113 – 1131N → K in HEMB; mild. 1 Publication
    VAR_006553
    Natural varianti115 – 1151Y → C in HEMB; severe. 1 Publication
    VAR_006554
    Natural varianti119 – 1191C → F in HEMB; severe.
    VAR_006555
    Natural varianti119 – 1191C → R in HEMB; Iran. 1 Publication
    VAR_006556
    Natural varianti124 – 1241E → K in HEMB. 1 Publication
    VAR_017347
    Natural varianti125 – 1251G → E in HEMB.
    VAR_006557
    Natural varianti125 – 1251G → R in HEMB. 1 Publication
    VAR_017348
    Natural varianti125 – 1251G → V in HEMB. 1 Publication
    VAR_006558
    Natural varianti129 – 1302Missing in HEMB.
    VAR_006559
    Natural varianti134 – 1341C → Y in HEMB. 1 Publication
    VAR_017349
    Natural varianti136 – 1361I → T in HEMB; mild.
    VAR_006560
    Natural varianti139 – 1391G → D in HEMB; severe.
    VAR_006561
    Natural varianti139 – 1391G → S in HEMB.
    VAR_006562
    Natural varianti155 – 1551C → F in HEMB; severe. 1 Publication
    VAR_006563
    Natural varianti160 – 1601G → E in HEMB; mild.
    VAR_006564
    Natural varianti167 – 1671Q → H in HEMB; mild.
    VAR_006565
    Natural varianti169 – 1691S → C in HEMB. 1 Publication
    VAR_017350
    Natural varianti170 – 1701C → F in HEMB. 1 Publication
    VAR_017351
    Natural varianti178 – 1781C → R in HEMB.
    VAR_006566
    Natural varianti178 – 1781C → W in HEMB; severe.
    VAR_006567
    Natural varianti191 – 1911R → C in HEMB; moderate; Albuquerque, Cardiff-1, etc.. 1 Publication
    VAR_006569
    Natural varianti191 – 1911R → H in HEMB; moderate; Chapel-Hill, Chicago-2, etc.. 2 Publications
    VAR_006568
    Natural varianti194 – 1941T → A.4 Publications
    Corresponds to variant rs6048 [ dbSNP | Ensembl ].
    VAR_011773
    Natural varianti226 – 2261R → G in HEMB; severe; Madrid. 2 Publications
    VAR_006571
    Natural varianti226 – 2261R → Q in HEMB; severe; Hilo and Novara. 3 Publications
    VAR_006572
    Natural varianti226 – 2261R → W in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.. 3 Publications
    VAR_006570
    Natural varianti227 – 2271V → D in HEMB; mild.
    VAR_006573
    Natural varianti227 – 2271V → F in HEMB; Milano. 1 Publication
    VAR_017310
    Natural varianti228 – 2281V → F in HEMB; severe; Kashihara. 1 Publication
    VAR_017311
    Natural varianti228 – 2281V → L in HEMB; mild; Cardiff-2. 1 Publication
    VAR_006574
    Natural varianti241 – 2411Q → H in HEMB.
    VAR_006575
    Natural varianti241 – 2411Q → K in HEMB. 1 Publication
    VAR_017352
    Natural varianti252 – 2521C → S in HEMB; severe. 1 Publication
    VAR_017312
    Natural varianti252 – 2521C → Y in HEMB. 1 Publication
    VAR_017353
    Natural varianti253 – 2531G → E in HEMB; severe.
    VAR_006576
    Natural varianti253 – 2531G → R in HEMB; severe; Luanda. 1 Publication
    VAR_006577
    Natural varianti265 – 2651A → T in HEMB; mild.
    VAR_006578
    Natural varianti268 – 2681C → W in HEMB; moderate. 1 Publication
    VAR_017313
    Natural varianti279 – 2791A → T in HEMB; mild. 2 Publications
    VAR_006579
    Natural varianti283 – 2831N → D in HEMB; severe.
    VAR_006580
    Natural varianti286 – 2861Missing in HEMB; severe.
    VAR_006581
    Natural varianti291 – 2911E → V in HEMB; Monschau. 1 Publication
    VAR_017314
    Natural varianti294 – 2941R → G in HEMB; severe.
    VAR_006582
    Natural varianti294 – 2941R → Q in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4. 5 Publications
    VAR_006583
    Natural varianti302 – 3021H → R in HEMB. 1 Publication
    VAR_006584
    Natural varianti306 – 3061N → S in HEMB; mild. 1 Publication
    VAR_017315
    Natural varianti316 – 3161I → F in HEMB. 1 Publication
    VAR_006585
    Natural varianti318 – 3181L → R in HEMB. 1 Publication
    VAR_017354
    Natural varianti321 – 3211L → Q in HEMB; severe.
    VAR_006586
    Natural varianti333 – 3331P → H in HEMB; severe.
    VAR_006587
    Natural varianti333 – 3331P → T in HEMB. 1 Publication
    VAR_017355
    Natural varianti342 – 3421T → K in HEMB; mild.
    VAR_006588
    Natural varianti342 – 3421T → M in HEMB; moderate. 3 Publications
    VAR_006589
    Natural varianti344 – 3441I → L in HEMB. 1 Publication
    VAR_017356
    Natural varianti351 – 3511G → D in HEMB.
    VAR_006590
    Natural varianti356 – 3561W → C in HEMB; severe.
    VAR_006591
    Natural varianti357 – 3571G → E in HEMB; severe; Amagasaki. 1 Publication
    VAR_006592
    Natural varianti357 – 3571G → R in HEMB. 1 Publication
    VAR_017316
    Natural varianti362 – 3621K → E in HEMB; moderate.
    VAR_006593
    Natural varianti363 – 3631G → W in HEMB.
    VAR_006594
    Natural varianti366 – 3661A → D in HEMB.
    VAR_006595
    Natural varianti379 – 3791R → G in HEMB; moderate. 1 Publication
    VAR_006596
    Natural varianti379 – 3791R → Q in HEMB; severe; Iceland-1, London and Sesimbra. 3 Publications
    VAR_006597
    Natural varianti382 – 3821C → Y in HEMB.
    VAR_006598
    Natural varianti383 – 3831L → F in HEMB. 1 Publication
    VAR_017358
    Natural varianti383 – 3831L → I in HEMB. 1 Publication
    VAR_017357
    Natural varianti384 – 3841R → L in THPH8; factor IX Padua; higher specific activity than wild-type. 1 Publication
    VAR_062999
    Natural varianti387 – 3871K → E in HEMB; mild. 1 Publication
    VAR_006599
    Natural varianti390 – 3901I → F in HEMB; severe.
    VAR_006600
    Natural varianti394 – 3941M → K in HEMB.
    VAR_006601
    Natural varianti395 – 3951F → I in HEMB. 1 Publication
    VAR_017359
    Natural varianti395 – 3951F → L in HEMB. 1 Publication
    VAR_017360
    Natural varianti396 – 3961C → F in HEMB. 1 Publication
    VAR_017361
    Natural varianti396 – 3961C → S in HEMB; severe.
    VAR_006602
    Natural varianti397 – 3971A → P in HEMB; mild; Hong Kong-11. 1 Publication
    VAR_017317
    Natural varianti404 – 4041R → T in HEMB.
    VAR_006603
    Natural varianti407 – 4071C → R in HEMB. 1 Publication
    VAR_017362
    Natural varianti407 – 4071C → S in HEMB; severe.
    VAR_006604
    Natural varianti410 – 4101D → H in HEMB; Mechtal. 1 Publication
    VAR_017318
    Natural varianti411 – 4111S → G in HEMB; Varel. 1 Publication
    VAR_017320
    Natural varianti411 – 4111S → I in HEMB; Schmallenberg. 1 Publication
    VAR_017319
    Natural varianti412 – 4121G → E in HEMB. 1 Publication
    VAR_017363
    Natural varianti413 – 4131G → R in HEMB; moderate to severe. 2 Publications
    VAR_006605
    Natural varianti414 – 4141P → T in HEMB; Bergamo. 2 Publications
    VAR_017321
    Natural varianti419 – 4191V → E in HEMB; moderately severe. 2 Publications
    VAR_006606
    Natural varianti424 – 4241F → V in HEMB. 1 Publication
    VAR_006607
    Natural varianti426 – 4261T → P in HEMB; severe; Barcelos. 1 Publication
    VAR_006608
    Natural varianti430 – 4301S → T in HEMB.
    VAR_006609
    Natural varianti431 – 4311W → G in HEMB.
    VAR_006610
    Natural varianti431 – 4311W → R in HEMB; moderate.
    VAR_006611
    Natural varianti432 – 4321G → S in HEMB; severe.
    VAR_006612
    Natural varianti432 – 4321G → V in HEMB; severe. 1 Publication
    VAR_006613
    Natural varianti433 – 4331E → A in HEMB.
    VAR_006614
    Natural varianti433 – 4331E → K in HEMB.
    VAR_006615
    Natural varianti435 – 4351C → Y in HEMB. 1 Publication
    VAR_017364
    Natural varianti436 – 4361A → V in HEMB; moderately severe; Niigata. 1 Publication