SERPING1 V473M [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9650331
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
C1Inh V473M, plasma protease C1 inhibitor, C1-In V473M
Icon
SERPING1 V473M [endoplasmic reticulum lumen] icon
SERPING1 V473M [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
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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
7852321 COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization

Eldering, E, Verpy, E, Roem, D, Meo, T, Tosi, M

J. Biol. Chem. 1995
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
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
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
GO:0001869
GO:0003013
GO:0004867
GO:0005515
GO:0005576
GO:0005615
GO:0005788
GO:0007596
GO:0007599
GO:0008015
GO:0030312
GO:0030414
GO:0031012
GO:0031093
GO:0042730
GO:0070062
GO:0072562
GO:0098772
HMNXSV003008886
HMNXSV003048827
ILMN_1670305
ILMN_1711272
M13690_s_at
PH_hs_0018714
TC11000467.hg
TC11002677.hg
g4557378_3p_at
Participates
as a member of
Other forms of this molecule
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 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 I196N [endoplasmic reticulum lumen]
SERPING1 S36Ffs*21 [endoplasmic reticulum lumen]
SERPING1 G184E [endoplasmic reticulum lumen]
SERPING1 L481P [endoplasmic reticulum lumen]
SERPING1 G345R [endoplasmic reticulum lumen]
SERPING1 [extracellular region]
SERPING1 [platelet alpha granule lumen]
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]
Modified Residues
Name
L-valine 473 replaced with L-methionine
Coordinate
473
PsiMod
L-methionine residue [MOD:00022]
A protein modification that effectively converts a source amino acid residue to L-methionine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
Cross References
RefSeq
OpenTargets
ENSEMBL
Mondo
GeneCards
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
ClinVar
PDB
Interactors (11)
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