SERPING1 G493E [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9650548
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
C1Inh G493E, plasma protease C1 inhibitor G493E, C1-In G493E
Icon
SERPING1 G493E [endoplasmic reticulum lumen] icon
SERPING1 G493E [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
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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

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

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

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

Ann. Hum. Genet. 2014
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 candidate 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 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 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 R494* [endoplasmic reticulum lumen]
SERPING1 S318* [endoplasmic reticulum lumen]
SERPING1 L481R [endoplasmic reticulum lumen]
Modified Residues
Name
glycine 493 replaced with L-glutamic acid
Coordinate
493
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-glutamic acid residue [MOD:00015]
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
Cross References
RefSeq
OpenTargets
ENSEMBL
Mondo
GeneCards
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
PDB
Interactors (11)
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