SERPING1 S170P [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9650362
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
C1Inh S170P, plasma protease C1 inhibitor S170P, C1-In S170P
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
30398465 Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Haslund, D, Ryø, LB, Seidelin Majidi, S, Rose, I, Skipper, KA, Fryland, T, Bohn, AB, Koch, C, Thomsen, MK, Palarasah, Y, Corydon, TJ, Bygum, A, Nejsum, LN, Mikkelsen, JG

J. Clin. Invest. 2019
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-serine 170 replaced with L-proline
Coordinate
170
PsiMod
A protein modification that effectively converts a source amino acid residue to L-proline.
A protein modification that effectively removes or replaces an L-serine.
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
Cite Us!