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SERPING1 I196N [endoplasmic reticulum lumen]
Stable Identifier
R-HSA-9651390
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
C1Inh I196N, plasma protease C1 inhibitor I196N, C1-In I196N
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) (Homo sapiens)
Defective SERPING1 causes hereditary angioedema (Homo sapiens)
SERPING1 variant is not secreted (Homo sapiens)
Non-secretable SERPING1 variants [endoplasmic reticulum lumen] (Homo sapiens)
SERPING1 I196N [endoplasmic reticulum lumen] (Homo sapiens)
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
UniProt:P05155 SERPING1
Gene Names
SERPING1, C1IN, C1NH
Chain
signal peptide:1-22, chain:23-500
Reference Genes
BioGPS Gene:710 SERPING1
COSMIC (genes):SERPING1 SERPING1
CTD Gene:710 SERPING1
dbSNP Gene:710 SERPING1
ENSEMBL:ENSG00000149131 SERPING1
HGNC:1228 SERPING1
KEGG:hsa:710 SERPING1
Monarch:710 SERPING1
NCBI Gene:710 SERPING1
OMIM:606860 SERPING1
UCSC:P05155 SERPING1
Reference Transcript
RefSeq:NM_000062.2 SERPING1
RefSeq:NM_001032295.1 SERPING1
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
as a candidate of
Non-secretable SERPING1 variants [endoplasmic reticulum lumen] (Homo sapiens)
Other forms of this molecule
SERPING1 [platelet alpha granule lumen]
SERPING1 L177P [endoplasmic reticulum lumen]
SERPING1 R400C [endoplasmic reticulum lumen]
SERPING1 V288E [endoplasmic reticulum lumen]
SERPING1 G184_P228del [endoplasmic reticulum lumen]
SERPING1 F236S [endoplasmic reticulum lumen]
SERPING1 T189N [endoplasmic reticulum lumen]
SERPING1 P476L [endoplasmic reticulum lumen]
SERPING1 G184R [endoplasmic reticulum lumen]
SERPING1 P489R [endoplasmic reticulum lumen]
SERPING1 S170P [endoplasmic reticulum lumen]
SERPING1 S280_P282del [endoplasmic reticulum lumen]
SERPING1 V473M [endoplasmic reticulum lumen]
SERPING1 N291H [endoplasmic reticulum lumen]
SERPING1 Q484* [endoplasmic reticulum lumen]
SERPING1 A2_M53del [endoplasmic reticulum lumen]
SERPING1 W482* [endoplasmic reticulum lumen]
SERPING1 Q338* [endoplasmic reticulum lumen]
SERPING1 S36Ffs*21 [endoplasmic reticulum lumen]
SERPING1 G184E [endoplasmic reticulum lumen]
SERPING1 L481P [endoplasmic reticulum lumen]
SERPING1 [extracellular region]
SERPING1 [endoplasmic reticulum lumen]
SERPING1 T467P [extracellular region]
SERPING1 G493R [extracellular region]
SERPING1 L273del [extracellular region]
SERPING1 D84_T138del [extracellular region]
SERPING1 A458V [extracellular region]
SERPING1 R466H [extracellular region]
SERPING1 R466L [extracellular region]
SERPING1 A458T [extracellular region]
SERPING1 R466C [extracellular region]
SERPING1 A456E [extracellular region]
SERPING1 P498S [extracellular region]
SERPING1 I462S [extracellular region]
SERPING1 R466S [extracellular region]
SERPING1 Q474* [endoplasmic reticulum lumen]
SERPING1 Y496* [endoplasmic reticulum lumen]
SERPING1 P498R [endoplasmic reticulum lumen]
SERPING1 F225* [endoplasmic reticulum lumen]
SERPING1 G493E [endoplasmic reticulum lumen]
SERPING1 R494* [endoplasmic reticulum lumen]
SERPING1 S318* [endoplasmic reticulum lumen]
SERPING1 L481R [endoplasmic reticulum lumen]
SERPING1 G345R [endoplasmic reticulum lumen]
Modified Residues
Name
L-isoleucine 196 replaced with L-asparagine
Coordinate
196
PsiMod
L-asparagine residue [MOD:00012]
A protein modification that effectively converts a source amino acid residue to an L-asparagine.
L-isoleucine removal [MOD:01640]
A protein modification that effectively removes or replaces an L-isoleucine.
Disease
Name
Identifier
Synonyms
C1 inhibitor deficiency
DOID:0060002
Quincke edema
Cross References
RefSeq
NP_000053.2
,
NP_001027466.1
ClinGen
CA380696895
OpenTargets
ENSG00000149131
ENSEMBL
ENST00000378324
,
ENST00000378323
,
ENST00000278407
,
ENST00000676670
,
ENSP00000367575
,
ENSP00000367574
,
ENSP00000504807
,
ENSP00000278407
HPA
ENSG00000149131-SERPING1
PRO
P05155
Pharos - Targets
P05155
GlyGen
P05155
Orphanet
SERPING1
PDB
5DU3
,
2OAY
,
7AKV
,
5DUQ
Interactors (11)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P09871 C1S
3
C1S N-terminal fragment [extracellular region]
(R-HSA-173607)
C1S C-terminal fragment [extracellular region]
(R-HSA-173608)
C1S(16-688) [extracellular region]
(R-HSA-173557)
0.715
5
UniProt:O00187 MASP2
0.676
3
UniProt:O82882 STCE
0.618
3
UniProt:Q79GN7 Q79GN7
0.611
3
UniProt:O43889-2 CREB3
0.556
3
UniProt:P00736 C1R
3
C1R(18-705) [extracellular region]
(R-HSA-173554)
C1R N-terminal fragment [extracellular region]
(R-HSA-173606)
C1R C-terminal fragment [extracellular region]
(R-HSA-173603)
0.544
2
UniProt:Q5JTY5 ZNG1C
0.527
2
UniProt:Q8N6H7 ARFGAP2
1
ARFGAP2 [cytosol]
(R-HSA-6807738)
0.527
2
UniProt:P0C6X7-PRO_0000037310 REP
0.508
2
UniProt:P0C6X7-PRO_0000037320 REP
0.508
2
UniProt:P00750 PLAT
3
PLAT(36-562) [extracellular region]
(R-HSA-158754)
PLAT(36-310) [extracellular region]
(R-HSA-158758)
PLAT(311-562) [extracellular region]
(R-HSA-158762)
0.499
2
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