F9(29-461) R43Q [extracellular region]

Stable Identifier
R-HSA-9673228
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
factor IX propeptide R43Q
Icon
F9(29-461) R43Q [extracellular region] icon
F9(29-461) R43Q [extracellular region] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
2738071 Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties.

Ware, J, Diuguid, DL, Liebman, HA, Rabiet, MJ, Kasper, CK, Furie, BC, Furie, B, Stafford, DW

J Biol Chem 1989
8295821 The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa

de la Salle, C, Charmantier, JL, Ravanat, C, Ohlmann, P, Hartmann, ML, Schuhler, S, Bischoff, R, Ebel, C, Roecklin, D, Balland, A

Nouv Rev Fr Hematol 1993
9169594 Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa

Wojcik, EG, Van Den Berg, M, Poort, SR, Bertina, RM

Biochem. J. 1997
2788012 Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw

Liddell, MB, Lillicrap, DP, Peake, IR, Bloom, AL

Br. J. Haematol. 1989
External Reference Information
External Reference
UniProt:P00740 F9
Gene Names
F9
Chain
signal peptide:1-28, propeptide:29-46, chain:47-461, chain:47-191, propeptide:192-226, chain:227-461
Reference Genes
BioGPS Gene:2158 F9
COSMIC (genes):F9 F9
CTD Gene:2158 F9
dbSNP Gene:2158 F9
ENSEMBL:ENSG00000101981 F9
HGNC:3551 F9
KEGG:hsa:2158 F9
Monarch:2158 F9
NCBI Gene:2158 F9
OMIM:300746 F9
UCSC:P00740 F9
Reference Transcript
Other Identifiers
11735185_a_at
11735186_a_at
11735187_at
11745643_a_at
17107373
207218_PM_at
207218_at
2158
35556_at
3993078
3993079
3993081
3993082
3993084
3993085
3993086
3993090
3993091
3993092
3993093
3993094
3993095
8170215
A_14_P113911
A_14_P200623
A_23_P62406
A_33_P3390411
GE80895
GO:0004175
GO:0004252
GO:0005509
GO:0005515
GO:0005576
GO:0005615
GO:0005788
GO:0005796
GO:0005886
GO:0006508
GO:0007596
GO:0007599
GO:0008233
GO:0008236
GO:0016787
GO:0030312
GO:0031012
GO:0031638
GO:0046872
GO:0070062
HMNXSV003019692
ILMN_1810651
K02402_at
PH_hs_0000181
TC0X000676.hg
g10518507_3p_at
Participates
as a member of
Other forms of this molecule
F9(227-461) R384L [plasma membrane]
3OHD110-F9(29-461) N43L [endoplasmic reticulum lumen]
3OHD110-F9(29-461) N46S [endoplasmic reticulum lumen]
3OHD110-F9(29-461) N43Q [endoplasmic reticulum lumen]
3OHD110-F9(29-461) N43W [endoplasmic reticulum lumen]
12xCbxE-3D-F9(47-461) R191H [extracellular region]
F9(29-461) R43W [extracellular region]
12xCbxE-3D-F9(47-461) R191C [extracellular region]
F9(29-461) R46S [extracellular region]
12xCbxE-3D-F9(47-461) R226W [extracellular region]
F9(29-461) R43L [extracellular region]
12xCbxE-3D-F9(47-461) R226Q [extracellular region]
12xCbxE-3D-F9(47-461) R226G [extracellular region]
F9(227-461) G409V [plasma membrane]
F9(227-461) I443T [plasma membrane]
F9(227-461) S411G [plasma membrane]
F9(227-461) G363E [plasma membrane]
F9(227-461) G363R [plasma membrane]
F9(227-461) D410H [plasma membrane]
F9(227-461) V359D [plasma membrane]
F9(227-461) G357E [plasma membrane]
F9(227-461) A436V [plasma membrane]
F9(227-461) S411I [plasma membrane]
F9(227-461) V419E [plasma membrane]
F9(227-461) G357R [plasma membrane]
F9(227-461) S411T [plasma membrane]
F9(29-461) R294* [endoplasmic reticulum lumen]
F9(29-461) R162R [endoplasmic reticulum lumen]
F9(29-461) Y450C [endoplasmic reticulum lumen]
F9(29-461) C28_V30delinsF [endoplasmic reticulum lumen]
F9(29-461) C155Y [endoplasmic reticulum lumen]
F9(29-461) C117Y [endoplasmic reticulum lumen]
F9(29-461) L163F [endoplasmic reticulum lumen]
F9(29-461) W453R [endoplasmic reticulum lumen]
F9(29-461) Q167H [endoplasmic reticulum lumen]
F9(29-461) R384* [endoplasmic reticulum lumen]
F9(29-461) A164V [endoplasmic reticulum lumen]
F9(29-461) V153V [endoplasmic reticulum lumen]
F9(29-461) R298* [endoplasmic reticulum lumen]
F9(29-461) R294Q [endoplasmic reticulum lumen]
F9(29-461) Y330* [endoplasmic reticulum lumen]
F9(29-461) T458K [endoplasmic reticulum lumen]
F9(29-461) R162* [endoplasmic reticulum lumen]
F9(29-461) C28* [endoplasmic reticulum lumen]
HC-335-F9(227-461) [plasma membrane]
12xCbxE-3D-HC-C178-F9(47-191) [plasma membrane]
12xCbxE-3D-F9(47-461) [extracellular region]
12xCbxE-3D-HC-C178-F9(47-191) [extracellular region]
HC-C335-F9(227-461) [extracellular region]
factor IX activation peptide [extracellular region]
F9(29-461) [endoplasmic reticulum lumen]
3OHD110-F9(29-461) [endoplasmic reticulum lumen]
12xCbxE-3D-F9(29-461) [endoplasmic reticulum lumen]
12xCbxE-3D-F9(29-461) [Golgi lumen]
factor IX propeptide [Golgi lumen]
12xCbxE-3D-F9(47-461) [Golgi lumen]
Modified Residues
Name
L-arginine 43 replaced with L-glutamine
Coordinate
43
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
hemophilia B DOID:12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
ZINC - Investigational
GeneCards
F9
HPA
Pharos - Targets
Orphanet
F9
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (15)
Cite Us!