SERPING1 I196N [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9651390
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
C1Inh I196N, plasma protease C1 inhibitor I196N, C1-In I196N
SERPING1 I196N [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
28194776 Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema

Keller, M, Steiner, UC, Schmid, P, Wuillemin, WA, Cichon, S

Clin. Exp. Immunol. 2017
External Reference Information
External Reference
Gene Names
SERPING1, C1IN, C1NH
Chain
signal peptide:1-22, chain:23-500
Other Identifiers
11715368_a_at
11751845_x_at
16724861
200986_PM_at
200986_at
3331358
3331359
3331360
3331361
3331362
3331363
3331364
3331365
3331366
3331367
3331368
3331369
3331370
3331371
3331372
3331373
3331374
3331375
3331376
3331379
3331380
39775_at
710
7940028
A_14_P105872
A_23_P139123
A_33_P3413987
A_33_P3413989
A_33_P3413993
GE61906
GE635731
GO:0001869
GO:0002376
GO:0003013
GO:0004867
GO:0005515
GO:0005576
GO:0005615
GO:0005788
GO:0006958
GO:0007596
GO:0008015
GO:0030312
GO:0031012
GO:0031093
GO:0042730
GO:0043226
GO:0045087
GO:0062023
GO:0070062
GO:0072562
GO:0098542
GO:0098772
HMNXSV003008886
HMNXSV003048827
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
L-isoleucine 196 replaced with L-asparagine
Coordinate
196
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-asparagine.
A protein modification that effectively removes or replaces an L-isoleucine.
Disease
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
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