SERPING1 G493E [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9650548
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
C1Inh G493E, plasma protease C1 inhibitor G493E, C1-In G493E
SERPING1 G493E [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
12402344 Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations

Roche, O, López-Trascasa, M, Fontan, G, Lopez-Granados, E, Blanch, A

Hum. Mutat. 2002
24456027 Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations

Triggiani, M, Bafunno, V, Bova, M, Montinaro, V, Loffredo, S, Margaglione, M, Petraroli, A, Divella, C, Marone, G

Ann. Hum. Genet. 2014
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
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:0004867
GO:0005515
GO:0005576
GO:0005615
GO:0005783
GO:0005788
GO:0006958
GO:0007596
GO:0007599
GO:0008015
GO:0030312
GO:0030414
GO:0031012
GO:0031093
GO:0031410
GO:0042060
GO:0042730
GO:0043226
GO:0045087
GO:0062023
GO:0070062
GO:0072562
GO:0098542
GO:0098772
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
glycine 493 replaced with L-glutamic acid
Coordinate
493
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
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