Reactome | SERPING1 Y496* [endoplasmic reticulum lumen]

SERPING1 Y496* [endoplasmic reticulum lumen]

Stable Identifier

R-HSA-9650355

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen

Synonyms

SERPING1 Y496TER, C1-In Y496*, plasma protease C1 inhibitor Y496*, C1Inh Y496*

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Literature References

PubMed ID	Title	Journal	Year
29513108	Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype Grivčeva-Panovska, V, Košnik, M, Korošec, P, Andrejević, S, Karadža-Lapić, L, Rijavec, M	Ann. Med.	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 Entrez 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

Non-secretable SERPING1 variants [endoplasmic reticulum lumen] (Homo sapiens)

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 [platelet alpha granule 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 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

Nonsense mutation at L-tyrosine 496

Coordinate

496

PsiMod

L-tyrosine removal [MOD:01649]

A protein modification that effectively removes or replaces an L-tyrosine.

Disease

Name	Identifier	Synonyms
C1 inhibitor deficiency	DOID:0060002	Quincke edema

Cross References

RefSeq

NP_001027466.1, NP_000053.2

OpenTargets

ENSG00000149131

ENSEMBL

ENST00000278407, ENSP00000367575, ENST00000378324, ENST00000378323, ENSP00000367574, ENSP00000504807, ENSG00000149131, ENST00000676670, ENSP00000278407

Mondo

0007361

GeneCards

SERPING1

HPA

ENSG00000149131-SERPING1

PRO

P05155

Pharos - Targets

P05155

GlyGen

P05155

Orphanet

SERPING1

PDB

8W18, 2OAY, 5DUQ, 5DU3, 7AKV

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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