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Protein

Plasma protease C1 inhibitor

Gene

SERPING1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei465 – 4662Reactive bond for chymotrypsin
Sitei466 – 4672Reactive bond

GO - Molecular functioni

  • serine-type endopeptidase inhibitor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Protease inhibitor, Serine protease inhibitor

Keywords - Biological processi

Blood coagulation, Complement pathway, Fibrinolysis, Hemostasis, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-140837. Intrinsic Pathway of Fibrin Clot Formation.

Protein family/group databases

MEROPSiI04.024.

Names & Taxonomyi

Protein namesi
Recommended name:
Plasma protease C1 inhibitor
Short name:
C1 Inh
Short name:
C1Inh
Alternative name(s):
C1 esterase inhibitor
C1-inhibiting factor
Serpin G1
Gene namesi
Name:SERPING1
Synonyms:C1IN, C1NH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:1228. SERPING1.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • extracellular space Source: UniProtKB
  • platelet alpha granule lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hereditary angioedema (HAE)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional.
See also OMIM:106100
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111L → R in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_071701
Natural varianti84 – 13855Missing in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_046202Add
BLAST
Natural varianti118 – 1181T → A in HAE. 1 Publication
Corresponds to variant rs200534715 [ dbSNP | Ensembl ].
VAR_068832
Natural varianti130 – 1301C → Y in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027379
Natural varianti154 – 1541Y → C in HAE. 1 Publication
Corresponds to variant rs281875168 [ dbSNP | Ensembl ].
VAR_068833
Natural varianti170 – 1701S → F in HAE. 1 Publication
Corresponds to variant rs281875169 [ dbSNP | Ensembl ].
VAR_068834
Natural varianti184 – 1841G → R in HAE. 1 Publication
Corresponds to variant rs281875170 [ dbSNP | Ensembl ].
VAR_068835
Natural varianti230 – 2301L → P in HAE. 1 Publication
Corresponds to variant rs281875171 [ dbSNP | Ensembl ].
VAR_068836
Natural varianti232 – 2321I → K in HAE. 1 Publication
Corresponds to variant rs281875172 [ dbSNP | Ensembl ].
VAR_068837
Natural varianti265 – 2651W → R in HAE. 1 Publication
VAR_071702
Natural varianti272 – 2721Missing in HAE. 1 Publication
VAR_068838
Natural varianti273 – 2731Missing in HAE; phenotype consistent with hereditary angioedema type 2; creates a new glycosylation site. 1 Publication
VAR_007012
Natural varianti274 – 2741I → V in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_071703
Natural varianti299 – 2991W → R in HAE. 1 Publication
Corresponds to variant rs281875173 [ dbSNP | Ensembl ].
VAR_068839
Natural varianti345 – 3451G → R in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027376
Natural varianti394 – 3941T → P in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027380
Natural varianti408 – 4081D → V in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027381
Natural varianti429 – 4291G → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007013
Natural varianti430 – 4301L → Q in HAE. 1 Publication
Corresponds to variant rs281875174 [ dbSNP | Ensembl ].
VAR_068840
Natural varianti441 – 4411M → T in HAE. 1 Publication
Corresponds to variant rs281875175 [ dbSNP | Ensembl ].
VAR_068841
Natural varianti447 – 4471L → P in HAE. 1 Publication
Corresponds to variant rs281875176 [ dbSNP | Ensembl ].
VAR_068842
Natural varianti454 – 4541V → E in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
Corresponds to variant rs121907949 [ dbSNP | Ensembl ].
VAR_007014
Natural varianti456 – 4561A → E in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007015
Natural varianti458 – 4581A → T in HAE; phenotype consistent with hereditary angioedema type 2. 3 Publications
Corresponds to variant rs121907947 [ dbSNP | Ensembl ].
VAR_007016
Natural varianti458 – 4581A → V in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007017
Natural varianti465 – 4651A → V in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
Corresponds to variant rs121907950 [ dbSNP | Ensembl ].
VAR_007018
Natural varianti466 – 4661R → C in HAE; phenotype consistent with hereditary angioedema type 2. 3 Publications
Corresponds to variant rs28940870 [ dbSNP | Ensembl ].
VAR_007019
Natural varianti466 – 4661R → H in HAE; phenotype consistent with hereditary angioedema type 2. 2 Publications
Corresponds to variant rs121907948 [ dbSNP | Ensembl ].
VAR_007020
Natural varianti466 – 4661R → L in HAE; phenotype consistent with hereditary angioedema type 2. 2 Publications
Corresponds to variant rs121907948 [ dbSNP | Ensembl ].
VAR_007021
Natural varianti466 – 4661R → S in HAE; phenotype consistent with hereditary angioedema type 2. 2 Publications
Corresponds to variant rs28940870 [ dbSNP | Ensembl ].
VAR_007022
Natural varianti467 – 4671T → P in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007023
Natural varianti473 – 4731V → E in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027382
Natural varianti473 – 4731V → G in HAE. 1 Publication
Corresponds to variant rs281875177 [ dbSNP | Ensembl ].
VAR_068843
Natural varianti473 – 4731V → M in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007024
Natural varianti477 – 4771F → S in HAE; phenotype consistent with hereditary angioedema type 2.
VAR_007026
Natural varianti481 – 4811L → P in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007028
Natural varianti481 – 4811L → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007029
Natural varianti489 – 4891P → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007030
Natural varianti493 – 4931G → E in HAE; phenotype consistent with hereditary angioedema type 1. 2 Publications
VAR_027383
Natural varianti493 – 4931G → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_071704
Natural varianti497 – 4971D → G in HAE. 1 Publication
Corresponds to variant rs281875178 [ dbSNP | Ensembl ].
VAR_068844
Natural varianti498 – 4981P → R in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027384
Natural varianti498 – 4981P → S in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007031

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiSERPING1.
MIMi106100. phenotype.
Orphaneti100050. Hereditary angioedema type 1.
100051. Hereditary angioedema type 2.
169147. Immunodeficiency due to an early component of complement deficiency.
PharmGKBiPA35029.

Chemistry

DrugBankiDB06404. C1 Esterase Inhibitor (Human).

Polymorphism and mutation databases

BioMutaiSERPING1.
DMDMi124096.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 22221 PublicationAdd
BLAST
Chaini23 – 500478Plasma protease C1 inhibitor1 PublicationPRO_0000032514Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi25 – 251N-linked (GlcNAc...) (complex)5 Publications
Glycosylationi47 – 471O-linked (GalNAc...)2 Publications
Glycosylationi48 – 481O-linked (GalNAc...)3 Publications
Glycosylationi64 – 641O-linked (GalNAc...)1 Publication
Glycosylationi69 – 691N-linked (GlcNAc...)3 Publications
Glycosylationi71 – 711O-linked (GalNAc...)1 Publication
Glycosylationi81 – 811N-linked (GlcNAc...)2 Publications
Glycosylationi83 – 831O-linked (GalNAc...)1 Publication
Glycosylationi88 – 881O-linked (GalNAc...)1 Publication
Glycosylationi92 – 921O-linked (GalNAc...)1 Publication
Glycosylationi96 – 961O-linked (GalNAc...)1 Publication
Disulfide bondi123 ↔ 4282 Publications
Disulfide bondi130 ↔ 2052 Publications
Glycosylationi238 – 2381N-linked (GlcNAc...) (complex)6 Publications
Glycosylationi253 – 2531N-linked (GlcNAc...) (complex)6 Publications
Glycosylationi272 – 2721N-linked (GlcNAc...); in variant TA
Glycosylationi352 – 3521N-linked (GlcNAc...) (complex)6 Publications

Post-translational modificationi

Highly glycosylated (49%) with N- and O-glycosylation. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor).11 Publications
Can be proteolytically cleaved by E.coli stcE.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP05155.
PaxDbiP05155.
PeptideAtlasiP05155.
PRIDEiP05155.
TopDownProteomicsiP05155-1. [P05155-1]

PTM databases

iPTMnetiP05155.
PhosphoSiteiP05155.
UniCarbKBiP05155.

Miscellaneous databases

PMAP-CutDBP05155.

Expressioni

Gene expression databases

BgeeiENSG00000149131.
ExpressionAtlasiP05155. baseline and differential.
GenevisibleiP05155. HS.

Organism-specific databases

HPAiCAB026161.
HPA048738.

Interactioni

Subunit structurei

Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria against complement-mediated lysis. Interacts with MASP1.3 Publications

Protein-protein interaction databases

BioGridi107171. 17 interactions.
DIPiDIP-45635N.
IntActiP05155. 7 interactions.
STRINGi9606.ENSP00000278407.

Structurei

Secondary structure

1
500
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi135 – 15723Combined sources
Beta strandi167 – 1693Combined sources
Helixi171 – 18313Combined sources
Helixi187 – 19711Combined sources
Helixi206 – 2116Combined sources
Beta strandi216 – 22611Combined sources
Helixi234 – 24411Combined sources
Helixi255 – 26814Combined sources
Turni269 – 2724Combined sources
Beta strandi287 – 30115Combined sources
Beta strandi309 – 3135Combined sources
Beta strandi320 – 33718Combined sources
Turni338 – 3414Combined sources
Beta strandi342 – 3509Combined sources
Beta strandi353 – 36210Combined sources
Helixi367 – 3737Combined sources
Helixi376 – 38712Combined sources
Beta strandi391 – 3999Combined sources
Beta strandi402 – 4087Combined sources
Helixi409 – 4135Combined sources
Helixi414 – 4163Combined sources
Beta strandi417 – 4193Combined sources
Helixi421 – 4244Combined sources
Turni428 – 4303Combined sources
Beta strandi441 – 4499Combined sources
Beta strandi451 – 46313Combined sources
Beta strandi468 – 4703Combined sources
Beta strandi477 – 4837Combined sources
Turni484 – 4874Combined sources
Beta strandi488 – 4958Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1M6Qmodel-A138-500[»]
2OAYX-ray2.35A119-500[»]
ProteinModelPortaliP05155.
SMRiP05155. Positions 102-498.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP05155.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati85 – 8841
Repeati89 – 9242
Repeati93 – 9643
Repeati97 – 10044
Repeati101 – 10445
Repeati105 – 10846
Repeati116 – 11947

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni85 – 119357 X 4 AA tandem repeats of [QE]-P-T-[TQ]Add
BLAST

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG2392. Eukaryota.
COG4826. LUCA.
GeneTreeiENSGT00760000118839.
HOGENOMiHOG000231936.
HOVERGENiHBG104060.
InParanoidiP05155.
KOiK04001.
PhylomeDBiP05155.
TreeFamiTF317350.

Family and domain databases

InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00284. SERPIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P05155-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASRLTLLTL LLLLLAGDRA SSNPNATSSS SQDPESLQDR GEGKVATTVI
60 70 80 90 100
SKMLFVEPIL EVSSLPTTNS TTNSATKITA NTTDEPTTQP TTEPTTQPTI
110 120 130 140 150
QPTQPTTQLP TDSPTQPTTG SFCPGPVTLC SDLESHSTEA VLGDALVDFS
160 170 180 190 200
LKLYHAFSAM KKVETNMAFS PFSIASLLTQ VLLGAGENTK TNLESILSYP
210 220 230 240 250
KDFTCVHQAL KGFTTKGVTS VSQIFHSPDL AIRDTFVNAS RTLYSSSPRV
260 270 280 290 300
LSNNSDANLE LINTWVAKNT NNKISRLLDS LPSDTRLVLL NAIYLSAKWK
310 320 330 340 350
TTFDPKKTRM EPFHFKNSVI KVPMMNSKKY PVAHFIDQTL KAKVGQLQLS
360 370 380 390 400
HNLSLVILVP QNLKHRLEDM EQALSPSVFK AIMEKLEMSK FQPTLLTLPR
410 420 430 440 450
IKVTTSQDML SIMEKLEFFD FSYDLNLCGL TEDPDLQVSA MQHQTVLELT
460 470 480 490 500
ETGVEAAAAS AISVARTLLV FEVQQPFLFV LWDQQHKFPV FMGRVYDPRA
Length:500
Mass (Da):55,154
Last modified:February 1, 1991 - v2
Checksum:i8B5E874833EA6C05
GO
Isoform 2 (identifier: P05155-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Note: No experimental confirmation available.
Show »
Length:448
Mass (Da):49,757
Checksum:iC3BA362232FA47AB
GO
Isoform 3 (identifier: P05155-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     17-17: G → GFLEPQ

Note: No experimental confirmation available.
Show »
Length:505
Mass (Da):55,769
Checksum:i6AAEEB52FEE89B80
GO

Sequence cautioni

The sequence AAA53096 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti103 – 1031T → S in BAF85743 (PubMed:14702039).Curated
Sequence conflicti187 – 1871E → Q in AAB59387 (PubMed:3756141).Curated
Sequence conflicti306 – 3061K → R in AAA35613 (PubMed:3488058).Curated
Sequence conflicti314 – 3207HFKNSVI → QLQKLSY AA sequence (PubMed:3458172).Curated
Sequence conflicti322 – 3221V → M AA sequence (PubMed:3458172).Curated
Sequence conflicti332 – 3321V → L AA sequence (PubMed:3458172).Curated
Sequence conflicti370 – 3756MEQALS → TGTGSQ AA sequence (PubMed:3458172).Curated
Sequence conflicti417 – 4171E → V AA sequence (PubMed:3458172).Curated
Sequence conflicti439 – 4391S → F AA sequence (PubMed:3458172).Curated

Polymorphismi

Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466 as its reactive site in the variant His-466.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111L → R in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_071701
Natural varianti39 – 391D → E.
Corresponds to variant rs11229062 [ dbSNP | Ensembl ].
VAR_027374
Natural varianti56 – 561V → A.2 Publications
Corresponds to variant rs11546660 [ dbSNP | Ensembl ].
VAR_027375
Natural varianti84 – 13855Missing in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_046202Add
BLAST
Natural varianti118 – 1181T → A in HAE. 1 Publication
Corresponds to variant rs200534715 [ dbSNP | Ensembl ].
VAR_068832
Natural varianti130 – 1301C → Y in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027379
Natural varianti154 – 1541Y → C in HAE. 1 Publication
Corresponds to variant rs281875168 [ dbSNP | Ensembl ].
VAR_068833
Natural varianti170 – 1701S → F in HAE. 1 Publication
Corresponds to variant rs281875169 [ dbSNP | Ensembl ].
VAR_068834
Natural varianti184 – 1841G → R in HAE. 1 Publication
Corresponds to variant rs281875170 [ dbSNP | Ensembl ].
VAR_068835
Natural varianti230 – 2301L → P in HAE. 1 Publication
Corresponds to variant rs281875171 [ dbSNP | Ensembl ].
VAR_068836
Natural varianti232 – 2321I → K in HAE. 1 Publication
Corresponds to variant rs281875172 [ dbSNP | Ensembl ].
VAR_068837
Natural varianti265 – 2651W → R in HAE. 1 Publication
VAR_071702
Natural varianti272 – 2721Missing in HAE. 1 Publication
VAR_068838
Natural varianti273 – 2731Missing in HAE; phenotype consistent with hereditary angioedema type 2; creates a new glycosylation site. 1 Publication
VAR_007012
Natural varianti274 – 2741I → V in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_071703
Natural varianti299 – 2991W → R in HAE. 1 Publication
Corresponds to variant rs281875173 [ dbSNP | Ensembl ].
VAR_068839
Natural varianti308 – 3081T → S.
Corresponds to variant rs1803212 [ dbSNP | Ensembl ].
VAR_011751
Natural varianti345 – 3451G → R in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027376
Natural varianti394 – 3941T → P in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027380
Natural varianti408 – 4081D → V in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027381
Natural varianti429 – 4291G → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007013
Natural varianti430 – 4301L → Q in HAE. 1 Publication
Corresponds to variant rs281875174 [ dbSNP | Ensembl ].
VAR_068840
Natural varianti441 – 4411M → T in HAE. 1 Publication
Corresponds to variant rs281875175 [ dbSNP | Ensembl ].
VAR_068841
Natural varianti447 – 4471L → P in HAE. 1 Publication
Corresponds to variant rs281875176 [ dbSNP | Ensembl ].
VAR_068842
Natural varianti454 – 4541V → E in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
Corresponds to variant rs121907949 [ dbSNP | Ensembl ].
VAR_007014
Natural varianti456 – 4561A → E in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007015
Natural varianti458 – 4581A → T in HAE; phenotype consistent with hereditary angioedema type 2. 3 Publications
Corresponds to variant rs121907947 [ dbSNP | Ensembl ].
VAR_007016
Natural varianti458 – 4581A → V in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007017
Natural varianti465 – 4651A → V in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
Corresponds to variant rs121907950 [ dbSNP | Ensembl ].
VAR_007018
Natural varianti466 – 4661R → C in HAE; phenotype consistent with hereditary angioedema type 2. 3 Publications
Corresponds to variant rs28940870 [ dbSNP | Ensembl ].
VAR_007019
Natural varianti466 – 4661R → H in HAE; phenotype consistent with hereditary angioedema type 2. 2 Publications
Corresponds to variant rs121907948 [ dbSNP | Ensembl ].
VAR_007020
Natural varianti466 – 4661R → L in HAE; phenotype consistent with hereditary angioedema type 2. 2 Publications
Corresponds to variant rs121907948 [ dbSNP | Ensembl ].
VAR_007021
Natural varianti466 – 4661R → S in HAE; phenotype consistent with hereditary angioedema type 2. 2 Publications
Corresponds to variant rs28940870 [ dbSNP | Ensembl ].
VAR_007022
Natural varianti467 – 4671T → P in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007023
Natural varianti473 – 4731V → E in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027382
Natural varianti473 – 4731V → G in HAE. 1 Publication
Corresponds to variant rs281875177 [ dbSNP | Ensembl ].
VAR_068843
Natural varianti473 – 4731V → M in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007024
Natural varianti474 – 4741Q → E.
VAR_007025
Natural varianti477 – 4771F → S in HAE; phenotype consistent with hereditary angioedema type 2.
VAR_007026
Natural varianti480 – 4801V → M.6 Publications
Corresponds to variant rs4926 [ dbSNP | Ensembl ].
VAR_007027
Natural varianti481 – 4811L → P in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007028
Natural varianti481 – 4811L → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007029
Natural varianti489 – 4891P → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007030
Natural varianti493 – 4931G → E in HAE; phenotype consistent with hereditary angioedema type 1. 2 Publications
VAR_027383
Natural varianti493 – 4931G → R in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_071704
Natural varianti497 – 4971D → G in HAE. 1 Publication
Corresponds to variant rs281875178 [ dbSNP | Ensembl ].
VAR_068844
Natural varianti498 – 4981P → R in HAE; phenotype consistent with hereditary angioedema type 1. 1 Publication
VAR_027384
Natural varianti498 – 4981P → S in HAE; phenotype consistent with hereditary angioedema type 2. 1 Publication
VAR_007031

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5252Missing in isoform 2. 1 PublicationVSP_056662Add
BLAST
Alternative sequencei17 – 171G → GFLEPQ in isoform 3. 1 PublicationVSP_056663

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M13690 mRNA. Translation: AAA35613.1.
M13656 mRNA. Translation: AAB59387.1.
X07427
, X07428, X07429, X07430, X07431, X07432, X07433 Genomic DNA. Translation: CAA30314.1.
X07577 mRNA. Translation: CAA30469.1.
X54486 Genomic DNA. Translation: CAA38358.1.
AF435921 Genomic DNA. Translation: AAM21515.1.
AK293054 mRNA. Translation: BAF85743.1.
AK303809 mRNA. Translation: BAG64762.1.
AK303840 mRNA. Translation: BAG64784.1.
AK312626 mRNA. Translation: BAG35512.1.
BT006966 mRNA. Translation: AAP35612.1.
AB209826 mRNA. Translation: BAD93063.1.
AY904027 Genomic DNA. Translation: AAW69393.1.
AP000662 Genomic DNA. No translation available.
AP002893 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW73764.1.
BC011171 mRNA. Translation: AAH11171.1.
AY291075 Genomic DNA. Translation: AAQ19269.1.
M30688 Genomic DNA. Translation: AAA53096.1. Sequence problems.
M14036 mRNA. Translation: AAA51848.1.
M13203 mRNA. Translation: AAA51849.1.
S76944 Genomic DNA. Translation: AAB33044.2.
CCDSiCCDS7962.1. [P05155-1]
PIRiS15386. ITHUC1.
RefSeqiNP_000053.2. NM_000062.2. [P05155-1]
NP_001027466.1. NM_001032295.1. [P05155-1]
UniGeneiHs.384598.

Genome annotation databases

EnsembliENST00000278407; ENSP00000278407; ENSG00000149131. [P05155-1]
ENST00000378323; ENSP00000367574; ENSG00000149131. [P05155-3]
ENST00000378324; ENSP00000367575; ENSG00000149131. [P05155-2]
GeneIDi710.
KEGGihsa:710.
UCSCiuc001nkp.2. human. [P05155-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

C1-inhibitor entry

SERPING1base

SERPING1 mutation db

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M13690 mRNA. Translation: AAA35613.1.
M13656 mRNA. Translation: AAB59387.1.
X07427
, X07428, X07429, X07430, X07431, X07432, X07433 Genomic DNA. Translation: CAA30314.1.
X07577 mRNA. Translation: CAA30469.1.
X54486 Genomic DNA. Translation: CAA38358.1.
AF435921 Genomic DNA. Translation: AAM21515.1.
AK293054 mRNA. Translation: BAF85743.1.
AK303809 mRNA. Translation: BAG64762.1.
AK303840 mRNA. Translation: BAG64784.1.
AK312626 mRNA. Translation: BAG35512.1.
BT006966 mRNA. Translation: AAP35612.1.
AB209826 mRNA. Translation: BAD93063.1.
AY904027 Genomic DNA. Translation: AAW69393.1.
AP000662 Genomic DNA. No translation available.
AP002893 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW73764.1.
BC011171 mRNA. Translation: AAH11171.1.
AY291075 Genomic DNA. Translation: AAQ19269.1.
M30688 Genomic DNA. Translation: AAA53096.1. Sequence problems.
M14036 mRNA. Translation: AAA51848.1.
M13203 mRNA. Translation: AAA51849.1.
S76944 Genomic DNA. Translation: AAB33044.2.
CCDSiCCDS7962.1. [P05155-1]
PIRiS15386. ITHUC1.
RefSeqiNP_000053.2. NM_000062.2. [P05155-1]
NP_001027466.1. NM_001032295.1. [P05155-1]
UniGeneiHs.384598.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1M6Qmodel-A138-500[»]
2OAYX-ray2.35A119-500[»]
ProteinModelPortaliP05155.
SMRiP05155. Positions 102-498.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107171. 17 interactions.
DIPiDIP-45635N.
IntActiP05155. 7 interactions.
STRINGi9606.ENSP00000278407.

Chemistry

DrugBankiDB06404. C1 Esterase Inhibitor (Human).

Protein family/group databases

MEROPSiI04.024.

PTM databases

iPTMnetiP05155.
PhosphoSiteiP05155.
UniCarbKBiP05155.

Polymorphism and mutation databases

BioMutaiSERPING1.
DMDMi124096.

Proteomic databases

MaxQBiP05155.
PaxDbiP05155.
PeptideAtlasiP05155.
PRIDEiP05155.
TopDownProteomicsiP05155-1. [P05155-1]

Protocols and materials databases

DNASUi710.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278407; ENSP00000278407; ENSG00000149131. [P05155-1]
ENST00000378323; ENSP00000367574; ENSG00000149131. [P05155-3]
ENST00000378324; ENSP00000367575; ENSG00000149131. [P05155-2]
GeneIDi710.
KEGGihsa:710.
UCSCiuc001nkp.2. human. [P05155-1]

Organism-specific databases

CTDi710.
GeneCardsiSERPING1.
HGNCiHGNC:1228. SERPING1.
HPAiCAB026161.
HPA048738.
MalaCardsiSERPING1.
MIMi106100. phenotype.
606860. gene.
neXtProtiNX_P05155.
Orphaneti100050. Hereditary angioedema type 1.
100051. Hereditary angioedema type 2.
169147. Immunodeficiency due to an early component of complement deficiency.
PharmGKBiPA35029.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2392. Eukaryota.
COG4826. LUCA.
GeneTreeiENSGT00760000118839.
HOGENOMiHOG000231936.
HOVERGENiHBG104060.
InParanoidiP05155.
KOiK04001.
PhylomeDBiP05155.
TreeFamiTF317350.

Enzyme and pathway databases

ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-140837. Intrinsic Pathway of Fibrin Clot Formation.

Miscellaneous databases

ChiTaRSiSERPING1. human.
EvolutionaryTraceiP05155.
GeneWikiiC1-inhibitor.
GenomeRNAii710.
PMAP-CutDBP05155.
PROiP05155.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149131.
ExpressionAtlasiP05155. baseline and differential.
GenevisibleiP05155. HS.

Family and domain databases

InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIC1_HUMAN
AccessioniPrimary (citable) accession number: P05155
Secondary accession number(s): A6NMU0
, A8KAI9, B2R6L5, B4E1F0, B4E1H2, Q16304, Q547W3, Q59EI5, Q7Z455, Q96FE0, Q9UC49, Q9UCF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: February 1, 1991
Last modified: September 7, 2016
This is version 203 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.