F9(29-461) Y330* [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9672848
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
factor IX propeptide Y330TER
F9(29-461) Y330* [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
28196793 Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Branchini, A, Ferrarese, M, Campioni, M, Castaman, G, Mari, R, Bernardi, F, Pinotti, M

Blood 2017
15921378 Molecular genotyping of the Italian cohort of patients with hemophilia B

Belvini, D, Salviato, R, Radossi, P, Pierobon, F, Mori, P, Castaldo, G, Tagariello, G, AICE HB Study Group, -

Haematologica 2005
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
0001090301
11735185_a_at
11735186_a_at
11735187_at
11745643_a_at
17107373
207218_at
2158
35556_at
3993078
3993079
3993081
3993082
3993084
3993085
3993086
3993090
3993091
3993092
3993093
3993094
3993095
3993097
3993098
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:0006810
GO:0006888
GO:0006950
GO:0007596
GO:0007597
GO:0007599
GO:0008150
GO:0008233
GO:0008236
GO:0016192
GO:0016787
GO:0031012
GO:0031638
GO:0043167
GO:0043226
GO:0046872
GO:0051604
GO:0062023
GO:0070062
ILMN_1787598
ILMN_1810651
K02402_at
PH_hs_0000181
TC0X000676.hg
g10518507_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-tyrosine 330 replaced with unknown
Coordinate
330
PsiMod
A protein modification that effectively removes or replaces an L-tyrosine.
Cross References
OpenTargets
ZINC - Substances
ZINC target
PRO
ZINC - Investigational
GeneCards
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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