SERPING1 serpin family G member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPING1provided by HGNC
Official Full Name: serpin family G member 1provided by HGNC
Primary source: HGNC:HGNC:1228
See related: Ensembl:ENSG00000149131 MIM:606860; AllianceGenome:HGNC:1228
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C1IN; C1NH; HAE1; HAE2; C1INH
Summary: 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]
Expression: Broad expression in liver (RPKM 710.5), gall bladder (RPKM 322.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (57597685..57614848)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (57547859..57565023)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (57365158..57382321)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long term outcome of C1-esterase inhibitor deficiency.
Title: Long term outcome of C1-esterase inhibitor deficiency.
Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey.
Title: Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey.
Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
Title: Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy.
Title: Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy.
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Title: Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.
Title: Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.
Interplay between C1-inhibitor and group IIA secreted phospholipase A2 impairs their respective function.
Title: Interplay between C1-inhibitor and group IIA secreted phospholipase A(2) impairs their respective function.
SerpinG1: A Novel Biomarker Associated With Poor Coronary Collateral in Patients With Stable Coronary Disease and Chronic Total Occlusion.
Title: SerpinG1: A Novel Biomarker Associated With Poor Coronary Collateral in Patients With Stable Coronary Disease and Chronic Total Occlusion.
SARS-CoV-2 Infection and C1-Esterase Inhibitor: Camouflage Pattern and New Perspective.
Title: SARS-CoV-2 Infection and C1-Esterase Inhibitor: Camouflage Pattern and New Perspective.
C1-inhibitor influence on platelet activation by thrombin receptors agonists.
Title: C1-inhibitor influence on platelet activation by thrombin receptors agonists.

Submit: New GeneRIF Correction See all GeneRIFs (154)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
C1 inhibitor deficiency MedGen: C1852700 OMIM: 120790 GeneReviews: Not available	not available
Hereditary angioedema type 1 MedGen: C2717906 OMIM: 106100 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of serpin peptidase inhibitor, clade G, member 1 (SERPING1) in peptide-treated PBMCs	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat upregulates the expression of many proteins, including Plasma protease (C1) inhibitor, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection	PubMed
retropepsin	gag-pol	HIV-1 protease directly cleaves complement component 1 inhibitor precursor between amino acid residues Leu-32 and Phe-33 in the N-terminal region of C1-inhibitor	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C1NH (e-PCR)
- UniSTS:39459

GDB:197595 (e-PCR)
- UniSTS:155951

RH11451 (e-PCR)
- UniSTS:72018

D11S3986 (e-PCR)
- UniSTS:39082

G62069 (e-PCR)
- UniSTS:139189

STS-X54486 (e-PCR)
- UniSTS:82160

SHGC-6014 (e-PCR)
- UniSTS:167673

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in blood circulation	TAS Traceable Author Statement more info	PubMed
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in fibrinolysis	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: plasma protease C1 inhibitor

Names: C1 esterase inhibitor; C1-inhibiting factor; C1-inhibitor; complement component 1 inhibitor; epididymis secretory sperm binding protein; serine/cysteine proteinase inhibitor clade G member 1; serpin G1; serpin peptidase inhibitor clade G member 1; serpin peptidase inhibitor, clade G (C1 inhibitor), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009625.1 RefSeqGene

Range

5001..22300

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_105

mRNA and Protein(s)

NM_000062.3 → NP_000053.2 plasma protease C1 inhibitor precursor

See identical proteins and their annotated locations for NP_000053.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AL703442, AP000662, AP002893, BQ183346

Consensus CDS

CCDS7962.1

UniProtKB/Swiss-Prot

A6NMU0, A8KAI9, B2R6L5, B4E1F0, B4E1H2, P05155, Q16304, Q547W3, Q59EI5, Q7Z455, Q96FE0, Q9UC49, Q9UCF9

UniProtKB/TrEMBL

A0A384MDV8, E9KL26

Related

ENSP00000278407.4, ENST00000278407.9

Conserved Domains (1) summary

cd02050
Location:145 → 495

C1_inh; C1 inhibitor (C1-Inh) is a protease inhibitor of the serpin family. It plays a pivotal role in regulating the activation of the classical complement pathway and of the contact system, via regulating bradykinin formation, inhibiting factor XII and ...
NM_001032295.2 → NP_001027466.1 plasma protease C1 inhibitor precursor

See identical proteins and their annotated locations for NP_001027466.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the 5' UTR, compared to variant 1.

Source sequence(s)

AP000662, AP002893, BQ183346

Consensus CDS

CCDS7962.1

UniProtKB/Swiss-Prot

A6NMU0, A8KAI9, B2R6L5, B4E1F0, B4E1H2, P05155, Q16304, Q547W3, Q59EI5, Q7Z455, Q96FE0, Q9UC49, Q9UCF9

UniProtKB/TrEMBL

A0A384MDV8, E9KL26

Related

ENSP00000504807.1, ENST00000676670.1

Conserved Domains (1) summary

cd02050
Location:145 → 495

C1_inh; C1 inhibitor (C1-Inh) is a protease inhibitor of the serpin family. It plays a pivotal role in regulating the activation of the classical complement pathway and of the contact system, via regulating bradykinin formation, inhibiting factor XII and ...