SERPING1

Protein identityUniProt · HPA

UniProt accession

P05155

Gene

SERPING1

Ensembl

ENSG00000149131

Chromosome

11

Canonical length

500 aa

Protein class

Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]

Canonical amino-acid sequenceUniProt

500 residues, UniProt reviewed canonical sequence.

>P05155|SERPING1
     1  MASRLTLLTL LLLLLAGDRA SSNPNATSSS SQDPESLQDR GEGKVATTVI SKMLFVEPIL
    61  EVSSLPTTNS TTNSATKITA NTTDEPTTQP TTEPTTQPTI QPTQPTTQLP TDSPTQPTTG
   121  SFCPGPVTLC SDLESHSTEA VLGDALVDFS LKLYHAFSAM KKVETNMAFS PFSIASLLTQ
   181  VLLGAGENTK TNLESILSYP KDFTCVHQAL KGFTTKGVTS VSQIFHSPDL AIRDTFVNAS
   241  RTLYSSSPRV LSNNSDANLE LINTWVAKNT NNKISRLLDS LPSDTRLVLL NAIYLSAKWK
   301  TTFDPKKTRM EPFHFKNSVI KVPMMNSKKY PVAHFIDQTL KAKVGQLQLS HNLSLVILVP
   361  QNLKHRLEDM EQALSPSVFK AIMEKLEMSK FQPTLLTLPR IKVTTSQDML SIMEKLEFFD
   421  FSYDLNLCGL TEDPDLQVSA MQHQTVLELT ETGVEAAAAS AISVARTLLV FEVQQPFLFV
   481  LWDQQHKFPV FMGRVYDPRA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SERPING1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

2,454 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SERPING1.

Disease | AllUniProt

Conditions SERPING1 is implicated in, by any mechanism.

• Angioedema, hereditary, 1 (HAE1) MIM:106100

Disease | GeneticClinVar

374 pathogenic / likely-pathogenic of 872 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary angioedema type 1
• Hereditary angioedema with C1Inh deficiency
• Angioedema
• Inborn genetic diseases
• Hereditary C1 esterase inhibitor deficiency - dysfunctional factor

Disease | AutoantibodyPubMed

Conditions in which antibodies against SERPING1 are reported. Each links to that disease's full target list.

• Lymphoproliferative Disorders 7
• Lupus Erythematosus, Systemic 3
• Paraproteinemias 3
• Urticaria 3

Showing 4 of 5 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for SERPING1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.32

gnomAD pLI

0.96

gnomAD missense Z

1.06

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood circulation
• blood coagulation
• fibrinolysis
• negative regulation of complement activation, lectin pathway

Molecular functions

• serine-type endopeptidase inhibitor activity

Cellular components

• blood microparticle
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• platelet alpha granule lumen

Protein domainsUniProt · Pfam · InterPro

• Serpin family
• Serpin, conserved site
• Serpin domain
• Serpin superfamily
• Serpin superfamily, domain 1
• Serpin superfamily, domain 2
• Serpin (serine protease inhibitor)

KeywordsUniProt

• Blood coagulation
• Disulfide bond
• Fibrinolysis
• Glycoprotein
• Hemostasis
• Protease inhibitor
• Repeat
• Secreted
• Serine protease inhibitor
• Signal

InteractionsUniProt · HPA

Protein binding partners of SERPING1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MASP1
• MASP2