F12 T328R [plasma membrane]

Stable Identifier
R-HSA-9653226
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Hageman factor T328R, factor XII T328R
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
27130860 Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations

de Maat, S, Björkqvist, J, Suffritti, C, Wiesenekker, CP, Nagtegaal, W, Koekman, A, van Dooremalen, S, Pasterkamp, G, de Groot, PG, Cicardi, M, Renné, T, Maas, C

J. Allergy Clin. Immunol. 2016
30591525 A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain

Ivanov, I, Matafonov, A, Sun, MF, Mohammed, BM, Cheng, Q, Dickeson, SK, Kundu, S, Verhamme, IM, Gruber, A, McCrae, K, Gailani, D

Blood 2019
External Reference Information
External Reference
Gene Names
F12
Chain
signal peptide:1-19, chain:20-372, chain:354-362, chain:373-615
Reference Transcript
Other Identifiers
0004730746
11756323_x_at
17003228
205774_at
2161
2888742
2888743
2888745
2888748
2888749
2888751
2888755
2888756
2888757
2888759
2888760
2888761
2888763
2888764
2888766
2888767
2888768
2888769
2888770
2888771
2888772
37838_at
8116033
A_23_P167674
A_33_P3233871
GE57922
GO:0002353
GO:0002376
GO:0002542
GO:0003674
GO:0004252
GO:0005509
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005783
GO:0005791
GO:0005886
GO:0006508
GO:0006950
GO:0007596
GO:0007597
GO:0007599
GO:0008150
GO:0008233
GO:0008236
GO:0010756
GO:0016485
GO:0016540
GO:0016787
GO:0030194
GO:0031012
GO:0031638
GO:0042730
GO:0043167
GO:0043226
GO:0045087
GO:0051604
GO:0051787
GO:0051788
GO:0051919
GO:0062023
GO:0070062
ILMN_1671766
M17466_at
PH_hs_0000179
TC05002105.hg
g9961354_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-threonine 328 replaced with L-arginine
Coordinate
328
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-arginine.
A protein modification that effectively removes or replaces an L-threonine.
Disease
Name Identifier Synonyms
hereditary angioedema 14735 HANE, Hereditary angioedema, Hereditary angioneurotic edema
Cross References
RefSeq
ClinGen
OpenTargets
ZINC - Substances
ZINC target
PRO
ZINC - Investigational
GeneCards
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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