SERPING1 F225* [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9651381
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
C1Inh F225TER, plasma protease C1 inhibitor F225*, C1-In N225*
SERPING1 F225* [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
29753808 Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Csuka, D, Maurer, M, Zamanakou, M, Loules, G, López-Trascasa, M, Moldovan, D, Staevska, M, Obtulowicz, K, López-Lera, A, Valerieva, A, Magerl, M, Porebski, G, Psarros, F, Parsopoulou, F, Vatsiou, S, Germenis, AE, Speletas, M, Farkas, H

Gene 2018
External Reference Information
External Reference
Gene Names
SERPING1, C1IN, C1NH
Chain
signal peptide:1-22, chain:23-500
Other Identifiers
0005130458
11715368_a_at
11751845_x_at
16724861
200986_PM_at
200986_at
3331358
3331359
3331360
3331362
3331363
3331364
3331365
3331366
3331369
3331372
3331373
3331376
3331379
3331380
39775_at
710
7940028
A_14_P105872
A_23_P139123
A_33_P3413987
A_33_P3413989
GE61906
GO:0001869
GO:0002376
GO:0003013
GO:0003674
GO:0004867
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005783
GO:0005788
GO:0006950
GO:0006958
GO:0007568
GO:0007596
GO:0007599
GO:0008015
GO:0008150
GO:0010466
GO:0010951
GO:0030193
GO:0030234
GO:0030312
GO:0030414
GO:0031012
GO:0031093
GO:0031410
GO:0042730
GO:0043226
GO:0045087
GO:0045916
GO:0062023
GO:0070062
GO:0072562
HMNXSV003008886
ILMN_1670305
ILMN_1711272
M13690_s_at
PH_hs_0018714
TC11000467.hg
TC11002677.hg
g4557378_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
Nonsense mutation at L-phenylalanine 225
Coordinate
225
PsiMod
A protein modification that effectively removes or replaces an L-phenylalanine.
Disease
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
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