12xCbxE-3D-F9(47-461) R191C [extracellular region]

Stable Identifier
R-HSA-9673391
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
12xCbxE-3D-F9 R191C, factor IX R191C
Icon
12xCbxE-3D-F9(47-461) R191C [extracellular region] icon
12xCbxE-3D-F9(47-461) R191C [extracellular region] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
2775660 Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145

Giddings, JC, Bloom, AL, Peake, IR, Lillicrap, DP, Taylor, SA, Liddell, MB

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
ENSEMBL_homo_sapiens_GENE:ENSG00000101981.12 F9
HGNC:3551 F9
KEGG Gene (Homo sapiens):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:0003824
GO:0004175
GO:0004252
GO:0005509
GO:0005515
GO:0005576
GO:0005615
GO:0005783
GO:0005788
GO:0005794
GO:0005796
GO:0005886
GO:0006508
GO:0007596
GO:0007599
GO:0008233
GO:0008236
GO:0016787
GO:0030312
GO:0031012
GO:0031638
GO:0042060
GO:0043226
GO:0046872
GO:0051604
GO:0062023
GO:0070062
GO:0140096
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) R43Q [extracellular region]
F9(29-461) R43W [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]
12xCbxE-3D-F9(47-461) [Golgi lumen]
factor IX propeptide [Golgi lumen]
12xCbxE-3D-F9(29-461) [Golgi lumen]
12xCbxE-3D-F9(29-461) [endoplasmic reticulum lumen]
3OHD110-F9(29-461) [endoplasmic reticulum lumen]
F9(29-461) [endoplasmic reticulum lumen]
factor IX activation peptide [extracellular region]
factor IXa heavy chain [extracellular region]
12xCbxE-3D-F9(47-191) [extracellular region]
12xCbxE-3D-F9(47-461) [extracellular region]
12xCbxE-3D-F9(47-191) [plasma membrane]
factor IXa heavy chain [plasma membrane]
Modified Residues
Name
L-arginine 191 replaced with L-cysteine
Coordinate
191
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Name
L-gamma-carboxyglutamic acid at 86
Coordinate
86
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 82
Coordinate
82
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 79
Coordinate
79
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 76
Coordinate
76
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 73
Coordinate
73
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 72
Coordinate
72
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 67
Coordinate
67
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 66
Coordinate
66
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 63
Coordinate
63
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 61
Coordinate
61
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 54
Coordinate
54
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
L-gamma-carboxyglutamic acid at 53
Coordinate
53
PsiMod Name
L-gamma-carboxyglutamic acid [MOD:00041]
PsiMod Definition
A protein modification that effectively converts an L-glutamic acid residue to L-gamma-carboxyglutamic acid.
Name
(2S,3R)-3-hydroxyaspartic acid at 110
Coordinate
110
PsiMod Name
(2S,3R)-3-hydroxyaspartic acid [MOD:00036]
PsiMod Definition
A protein modification that effectively converts an L-aspartic acid residue to (2S,3R)-3-hydroxyaspartic acid.
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
ClinGen
OpenTargets
ZINC - Substances
ZINC target
PRO
PDB
ZINC - Investigational
GeneCards
HPA
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (15)
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