SERPING1 A2_M53del [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9651435
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
C1Inh A2_M53del, plasma protease C1 inhibitor A2_M53del, C1-In A2_M53del, SERPING1 M1L, SERPING1 Met1Leu
Icon
SERPING1 A2_M53del [endoplasmic reticulum lumen] icon
SERPING1 A2_M53del [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Expand all
General
The mutations in the SERPING1 ( c.1A>C (p.Met1Leu), c.1A>G (p.Met1Val), c.2T>G (p.Met1Arg)and c.2T>G (p.Met1Thr)) alter the initiation codon of the transcript leading to the N-truncated variant with a downstream translation initiation site at Met53 resulting in the deletion of Met1- Lys52 at the protein level. One EWAS represents all variants mentioned above and is named following the HGVS recommendations as SEARPING1 A2_M53del.
Literature References
PubMed ID Title Journal Year
26248961 F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema

Farkas, H, Maurer, M, Magerl, M, Speletas, M, Germenis, AE, Moldovan, D, Varga, L, Kompoti, M, Koutsostathis, N, Csuka, D, Psarros, F, Szilágyi, Á

Allergy 2015
29753808 Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

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

Gene 2018
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
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
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 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 [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
Deletion of residues 1 to 52
Disease
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
Cross References
RefSeq
OpenTargets
ENSEMBL
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
ClinVar
PDB
Interactors (11)
Cite Us!