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

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

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

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

Ljung, RC, Sjörin, E, Knobe, KE

Haemophilia 2008
External Reference Information
External Reference
Gene Names
F9
Chain
signal peptide:1-28, propeptide:29-46, chain:47-461, chain:47-191, propeptide:192-226, chain:227-461
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
Other forms of this molecule
Modified Residues
Name
L-valine 153 replaced with L-valine
Coordinate
153
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-valine.
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
Guide to Pharmacology - Targets
OpenTargets
ZINC - Substances
ZINC target
PRO
ZINC - Investigational
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q3U4G3 XXLT1      0.618 3
 UniProt:P00451-PRO_0000002968 F8      0.544 2
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