Reactome | SERPING1 G184_P228del [endoplasmic reticulum lumen]

SERPING1 G184_P228del [endoplasmic reticulum lumen]

Stable Identifier

R-HSA-9650472

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen

Synonyms

C1Inh G184_P228del, plasma protease C1 inhibitor G184_P228del, C1-In G184_P228del

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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 Palarasah, Y, Fryland, T, Nejsum, LN, Koch, C, Corydon, TJ, Haslund, D, Thomsen, MK, Bygum, A, Seidelin Majidi, S, Skipper, KA, Mikkelsen, JG, Ryø, LB, Rose, I, Bohn, AB	J. Clin. Invest.	2019
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

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 member 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 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 [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 184 to 228

Disease

Name	Identifier	Synonyms
C1 inhibitor deficiency	DOID:0060002	Quincke edema

Cross References

RefSeq

NP_000053.2, NP_001027466.1

ClinGen

CA645509450

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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