F9(29-461) R162R [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9672452
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
factor IX propeptide R162R
Icon
F9(29-461) R162R [endoplasmic reticulum lumen] icon
F9(29-461) R162R [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
27227676 Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

Barbon, E, Tajnik, M, Pinotti, M, Pagani, F, Balestra, D, Bussani, E, Rogalska, ME

PLoS Genet. 2016
31257730 Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Kimchi-Sarfaty, C, Komar, AA, Ismail, A, Bar, H, Katneni, UK, Hunt, R, Katagiri, NH, Holcomb, D, Liss, A

Mol Genet Genomic Med 2019
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 Gene (Homo sapiens):2158 F9
Monarch:2158 F9
NCBI Gene:2158 F9
OMIM:300746 F9
UCSC:P00740 F9
Reference Transcript
Other Identifiers
0001090301
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:0003674
GO:0004175
GO:0004252
GO:0005509
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005783
GO:0005788
GO:0005794
GO:0005796
GO:0005886
GO:0006508
GO:0006950
GO:0007596
GO:0007599
GO:0008150
GO:0008233
GO:0008236
GO:0016787
GO:0030312
GO:0031012
GO:0031638
GO:0043167
GO:0043226
GO:0046872
GO:0051604
GO:0062023
GO:0070062
HMNXSV003019692
ILMN_1787598
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) N43Q [extracellular region]
F9(29-461) N43W [extracellular region]
12xCbxE-3D-F9(47-461) R191C [extracellular region]
F9(29-461) N46S [extracellular region]
12xCbxE-3D-F9(47-461) R226W [extracellular region]
F9(29-461) N43L [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) 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 162 replaced with L-arginine
Coordinate
162
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
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
ZINC - Substances
ZINC target
PRO
PDB
ZINC - Investigational
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
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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