SERPING1 Q338* [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9651424
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
SERPING1 Q338TER, C1-In Q338*, plasma protease C1 inhibitor, C1Inh Q338TER
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

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

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_at
3331358
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:0002576
GO:0003013
GO:0003674
GO:0004867
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0006810
GO:0006950
GO:0006958
GO:0007568
GO:0007596
GO:0007597
GO:0007599
GO:0008015
GO:0008150
GO:0010466
GO:0010951
GO:0016192
GO:0030193
GO:0030234
GO:0030414
GO:0030449
GO:0031012
GO:0031093
GO:0031410
GO:0042730
GO:0043226
GO:0045087
GO:0045916
GO:0062023
GO:0070062
GO:0072562
ILMN_1670305
ILMN_1711272
M13690_s_at
PH_hs_0018714
TC11000467.hg
TC11002677.hg
g4557378_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamine 338 replaced with unknown
Coordinate
338
PsiMod
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
C1 inhibitor deficiency 0060002 Quincke edema
Interactors (4)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O82882 STCE      0.618 3
 UniProt:O43889-2 CREB3      0.556 3
 UniProt:P0C6X7-PRO_0000037310 REP      0.508 2
 UniProt:P0C6X7-PRO_0000037320 REP      0.508 2
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