F9(29-461) V153V [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9670810
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
factor IX propeptide V153V
Icon
F9(29-461) V153V [endoplasmic reticulum lumen] icon
F9(29-461) V153V [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
28007939 Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B

Simhadri, VL, Hamasaki-Katagiri, N, Lin, BC, Hunt, R, Jha, S, Tseng, SC, Wu, A, Bentley, AA, Zichel, R, Lu, Q, Zhu, L, Freedberg, DI, Monroe, DM, Sauna, ZE, Peters, R, Komar, AA, Kimchi-Sarfaty, C

J. Med. Genet. 2017
18459950 Why does the mutation G17736A/Val107Val (silent) in the F9 gene cause mild haemophilia B in five Swedish families?

Knobe, KE, Sjörin, E, Ljung, RC

Haemophilia 2008
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) R43Q [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) 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-valine 153 replaced with L-valine
Coordinate
153
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
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!