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  Coagulation factor IX

SourceHomo sapiens (human)
Taxonomy Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Keywords3D-structure; Blood coagulation; Calcium; Cleavage on pair of basic residues; Complete proteome; Direct protein sequencing; Disease mutation; Disulfide bond; EGF-like domain; Gamma-carboxyglutamic acid; Glycoprotein; Hemophilia; Hydrolase; Hydroxylation; Pharmaceutical; Phosphoprotein; Polymorphism; Protease; Repeat; Secreted; Serine protease; Signal; Sulfation; Zymogen.
Details
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.

Post-translational modification: 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.

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

Subcellular location: Secreted.

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

Tissue specificity: Synthesized primarily in the liver and secreted in plasma.

Disease: Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) 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.

Sequence length: 461 AA.

Sequence
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNL
ERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCP
FGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGR
VSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRII
PHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVF
HKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVE
GTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT
Accession NumberP00740 
PubMed ID6959130, 6687940, 6329734, 2994716, 3857619, 14702039, 15772651, 15489334, 8295821, 6089357, 2592373, 3340835, 8236150, 6688526, 659613, 6425296, 2511201, 2129367, 1517205, 8172892, 11133752, 7713897, 7547952, 8663165, 9047312, 1854745, 1304885, 7606779, 10467148, 2743975, 1634040, 8392713, 6603618, 3009023, 3790720, 3401602, 3243764, 2713493, 2714791, 2773937, 2775660, 2753873, 2738071, 2472424, 2339358, 2372509, 2162822, 1958666, 1902289, 1346975, 1615485, 8257988, 8076946, 8199596, 7981722, 8680410, 8833911, 9222764, 9590153, 9452115, 9600455, 10698280, 10094553, 10391209, 11122099, 12588353, 12604421 
CEX DBHS_F9
CTD DB2158
eggNOG DBprNOG06113
Ensembl DBENST00000218099, ENST00000394090
Genecard DBGC0XP138440
GeneID DB2158
GermOnline DBENSG00000101981
GO DB0005576, 0005886, 0005509, 0004252, 0007598, 0006508
HGNC DB3551
HOGENOM DBHBG715028
HPA DBHPA000254
InterPro DBIPR002383, IPR006209, IPR006210, IPR013032, IPR000152, IPR001438, IPR000742, IPR001881, IPR018097, IPR000294, IPR012224, IPR018114, IPR001254, IPR001314, IPR009003
H-InvDBHIX0056112
IPI DBIPI00296176
KEGGhsa:2158
NCBIJ00136, AAA98726, J00137, AAA52763, K02053, AAA56822, K02048, K02049, K02051, K02052, K02402, AAB59620, M11309, AAA52023, AL033403, CAI42103, AF536327, AAM96188, AK292749, BAF85438, CH471150.2, EAW88433, BC109214, AAI09215, BC109215, AAI09216, S68634, AAB29758, M35672, AAA51981, M19063, AAA52456, S66752, AAB28588, NP_000124
NMPDR fig|9606.3.peg.33470
OMARPKRYNS
OMIM105200, 134820, 202400, 134830, 202400, 134850, 202400, 176930, 601367, 134390, 188055, 227400, 600880, 601367, 612309, 227500, 134500, 306700, 300746, 306900
Orphanet DB448, 98879, 169799, 169796, 169793, 177929
OrthoDBEOG9QRKPC
PDB1CFH_A, 1CFI_A, 1EDM_B, 1EDM_C, 1IXA_A, 1MGX_A, 1NL0_G, 1RFN_A, 1RFN_B
PfamPF00008, PF00594, PF00089
PharmaGKBPA24978
PROSITE DBPS00010, PS00022, PS01186, PS50026, PS01187, PS00011, PS50998, PS50240, PS00134, PS00135
SMART DBSM00181, SM00179, SM00069, SM00020
UCSCuc004fas.1
UniGeneHs.522798



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