Affinage

SERPINC1

Antithrombin-III · UniProt P01008

Length
464 aa
Mass
52.6 kDa
Annotated
2026-04-28
100 papers in source corpus 22 papers cited in narrative 22 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SERPINC1 encodes antithrombin (antithrombin III), the principal serpin-family inhibitor of thrombin and activated coagulation factors (FXa, FIXa, FXIa, FVIIa), whose anticoagulant activity is dramatically accelerated by heparin binding at a distinct exosite involving residues such as Arg47 and Pro41 (PMID:2794060). Proper N-glycosylation at sites including Asn224 is essential for folding, secretion, and full inhibitory function; loss of glycosylation generates a β-glycoform with reduced secretion and no inhibitory activity, and aberrant O-glycosylation (e.g., at Met313Thr) destabilizes the serpin fold by increasing reactive-center-loop flexibility (PMID:35486842, PMID:41862219). Mutations in SERPINC1 cause hereditary antithrombin deficiency and thrombophilia through diverse mechanisms including reactive-site disruption, heparin-binding impairment, ER stress with intracellular retention and ER-associated degradation, proteasome-dependent cytoplasmic degradation, nonsense-mediated mRNA decay, and Alu-element-mediated large genomic deletions (PMID:2794060, PMID:27708219, PMID:38104950, PMID:19760264). Transcription is regulated by promoter elements including functional vitamin D receptor elements in the promoter and intron 1, and the intronic polymorphism rs2227589 modestly reduces plasma antithrombin levels (PMID:27003919, PMID:19229049).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1989 High

    Establishing that the reactive-center loop and heparin-binding site are genetically separable functional domains: point mutations at the reactive center (Ala384Pro, Arg393His) abolished thrombin inhibition while distinct mutations (Pro41Leu, Arg47Cys) selectively impaired heparin binding, defining two independent functional surfaces on antithrombin.

    Evidence PCR-based exon sequencing with allele-specific oligonucleotide hybridization and functional classification by protease reactivity and heparin binding assays in multiple variant families

    PMID:2794060

    Open questions at the time
    • Crystal structure of mutant–heparin complexes not determined
    • Kinetic parameters for individual factor inhibition not measured for each variant
  2. 1992 High

    Demonstrating that splicing defects cause quantitative (type I) antithrombin deficiency: a donor splice-site mutation caused exon 3a skipping and an abnormal transcript, establishing mRNA processing as a disease mechanism distinct from protein-level dysfunction.

    Evidence Ectopic transcript analysis of lymphocyte mRNA with cDNA sequencing and oligonucleotide discriminant hybridization

    PMID:1505975

    Open questions at the time
    • Nonsense-mediated mRNA decay contribution not quantified for this specific splice mutant
    • No assessment of whether partial exon-skipping transcripts encode truncated proteins
  3. 2009 High

    Revealing that Alu-mediated large genomic deletions account for a substantial fraction of previously unexplained type I deficiency: MLPA detected whole-gene and partial deletions in ~50% of unresolved cases, with Alu repeats mediating recombination at breakpoints.

    Evidence MLPA with breakpoint sequencing in 22 probands; Alu-mediated recombination mechanism established; later extended to Japanese patients showing non-Alu FoSTeS-mediated rearrangements

    PMID:19760264 PMID:31030036

    Open questions at the time
    • Frequency of FoSTeS-mediated versus Alu-mediated events across populations not established
    • Functional consequence of partial deletions on mRNA stability not directly tested
  4. 2009 Medium

    Identifying a common intronic polymorphism (rs2227589) that modestly reduces circulating antithrombin: the A allele significantly lowered anti-FXa activity and antigen levels, while the linked promoter polymorphism rs3138521 had no independent effect.

    Evidence Genotyping in 298 blood donors with plasma anti-FXa activity and antigen measurement

    PMID:19229049

    Open questions at the time
    • Molecular mechanism by which intronic SNP reduces expression is unknown
    • Effect size may be too small for independent clinical significance
  5. 2012 High

    Establishing that promoter mutations can cause antithrombin deficiency: a transversion 170 bp upstream of the translation start impaired transcription in reporter assays and cosegregated with type I deficiency in a family, identifying the first regulatory mutation in SERPINC1.

    Evidence Reporter gene assay in hepatic cell lines combined with family genotype-phenotype analysis

    PMID:22234719

    Open questions at the time
    • Transcription factor binding at this site not identified
    • Chromatin context effects not assessed
  6. 2016 Medium

    Discovering vitamin D-responsive transcriptional regulation: functional VDREs in the SERPINC1 promoter and intron 1 drive dose-dependent upregulation of antithrombin by vitamin D analogs, and VDRE-disrupting mutations cause moderate antithrombin deficiency.

    Evidence VDRE identification in silico; HepG2 treatment with paricalcitol showing dose-dependent SERPINC1 mRNA and secreted protein increase

    PMID:27003919

    Open questions at the time
    • In vivo validation of vitamin D-mediated antithrombin regulation in human subjects not performed
    • VDR ChIP confirmation at SERPINC1 locus not reported
  7. 2016 High

    Defining ER stress and ER-associated degradation as a pathogenic mechanism: an in-frame deletion in exon 4 triggered ER stress leading to intracellular retention; pharmacological suppression of ER stress enhanced secretion while inhibition of ER-associated degradation blocked clearance, dissecting the proteostatic fate of misfolded antithrombin.

    Evidence Cell-based expression with ER stress assays and pharmacological modulation (ER stress inhibitor and proteasome/ERAD inhibitor)

    PMID:27708219

    Open questions at the time
    • Identity of the ER chaperones recognizing misfolded antithrombin not determined
    • Whether ER stress contributes to liver pathology in patients is unknown
  8. 2019 High

    Identifying a functional hotspot (Arg294/Val295) where mutations escape standard diagnostic assays: these mutations caused elevated endogenous thrombin potential without reducing anti-FXa or anti-FIIa activity, revealing a class of antithrombin deficiency invisible to conventional testing.

    Evidence Sequencing of 1,304 VTE patients; recombinant expression with thrombin generation assay

    PMID:29137435

    Open questions at the time
    • Structural basis for why these mutations selectively impair thrombin generation is unresolved
    • Clinical penetrance data for this hotspot limited
  9. 2022 High

    Establishing the critical role of Asn224 N-glycosylation for antithrombin function: variants abolishing glycosylation at this site generated β-glycoforms with reduced secretion, no inhibitory activity, and dominant-negative effects, while only anti-FVIIa activity and heat stability (not standard assays) detected the deficiency.

    Evidence Site-directed mutagenesis of glycosylation sequon flanking residues; anti-FXa/FIIa/FVIIa activity assays; glycoform analysis in eukaryotic expression model

    PMID:35486842

    Open questions at the time
    • Structural basis for dominant-negative effect of β-glycoform not determined at atomic resolution
    • Whether other N-glycosylation sites show similar functional sensitivity is incompletely explored
  10. 2023 High

    Distinguishing proteasome-dependent degradation from nonsense-mediated mRNA decay as parallel pathogenic mechanisms: p.Gly308Cys was rescued by proteasome inhibitor MG132 (cytoplasmic degradation), while p.Asn107* eliminated mRNA via NMD, demonstrating that different mutations in the same gene engage fundamentally different quality-control pathways.

    Evidence RT-qPCR, Western blot, ELISA, immunocytofluorescence, and MG132 treatment in HEK293T cells

    PMID:38104950

    Open questions at the time
    • Ubiquitin ligase responsible for targeting misfolded antithrombin to proteasome not identified
    • Relative contribution of proteasomal vs. ER-associated degradation for missense variants unclear
  11. 2026 High

    Revealing aberrant O-glycosylation as a novel pathogenic mechanism: the p.Met313Thr variant introduced an O-glycan in the breach region that destabilized antithrombin by increasing latent/denatured forms and RCL flexibility, while paradoxically enhancing inhibitory activity—explaining a transient deficiency phenotype.

    Evidence Recombinant protein expression with glycosidase treatment confirming O-glycosylation; thermal stability assay; native-urea PAGE; molecular dynamics simulation

    PMID:41862219

    Open questions at the time
    • Identity of the O-glycosyltransferase responsible not determined
    • Whether other breach-region mutations introduce similar aberrant glycosylation is untested
    • In vivo turnover kinetics of O-glycosylated antithrombin not measured

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular mechanism by which the rs2227589 intronic polymorphism reduces antithrombin levels, and whether vitamin D-mediated transcriptional regulation is physiologically significant in vivo, remain unresolved; additionally, no structural model exists for how β-glycoform antithrombin exerts its dominant-negative effect.
  • Mechanism of rs2227589 effect on expression unknown
  • In vivo relevance of VDRE-mediated regulation unconfirmed
  • Atomic-resolution structure of pathogenic glycoform variants lacking

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 5
Localization
GO:0005783 endoplasmic reticulum 4 GO:0005576 extracellular region 3
Pathway
R-HSA-109582 Hemostasis 5 R-HSA-1643685 Disease 4
Partners
FVIIAFXAHEPARINTHROMBIN

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1989 Point mutations in the reactive center of antithrombin III (ATIII) impair serine protease reactivity: ATIII Charleville (Ala384Pro) and ATIII Avranches (Arg393His) were identified as reactive-site mutations that abolish thrombin inhibition, while Pro41Leu and Arg47Cys mutations impair heparin binding. PCR amplification of gene exons followed by allele-specific oligonucleotide dot blot and direct sequencing; functional classification by protease reactivity and heparin binding assays The Journal of clinical investigation High 2794060
1991 Arg406 in the conserved C-terminal core region near the reactive site of antithrombin III is critical for biological function; mutation Arg406Met (AT-III Kyoto) results in reduced antigen, progressive activity, and heparin cofactor activity, demonstrating the functional importance of this conserved region. PCR followed by direct DNA sequencing; functional assays for antigen level, progressive activity, and heparin cofactor activity Thrombosis research Medium 1776135
1992 A splice site mutation at the exon 3a donor site of SERPINC1 causes exon 3a skipping in lymphocyte mRNA, producing an abnormally sized transcript and resulting in type I antithrombin III deficiency, demonstrating that mRNA splicing defects can cause quantitative antithrombin deficiency. PCR/direct sequencing; ectopic transcript analysis of lymphocyte mRNA; cDNA sequencing; oligonucleotide discriminant hybridization Genomics High 1505975
1995 A length polymorphism in the ATIII (SERPINC1) promoter has cell-line-dependent effects on promoter strength (1.6-fold higher for L allele in HepG2; 1.7-fold higher for S allele in Hep3B), but does not significantly affect plasma ATIII activity in vivo. Transient transfection of AT3 promoter/luciferase reporter gene constructs into two human hepatoma cell lines; in vivo plasma ATIII activity assay in 155 individuals Blood coagulation & fibrinolysis Medium 8562837
2009 Large deletions in SERPINC1 (including whole gene deletions and partial exon deletions) are detected by MLPA and explain approximately half of otherwise unexplained type I antithrombin deficiency; Alu repeat elements mediate recurrent deletional rearrangements at this locus. Multiplex ligation-dependent probe amplification (MLPA); sequencing of deletion breakpoints; identification of Alu-mediated recombination Human genetics High 19760264
2012 A g.2143 C>G transversion in the SERPINC1 promoter region (170 bp upstream of translation initiation codon), affecting a DNase I footprint-protected regulatory region, significantly impairs but does not abolish downstream transcription, causing type I antithrombin deficiency. Sequencing of 15,375 bp of SERPINC1 including promoter; reporter gene assay in hepatic cell lines; genotype-phenotype analysis in affected family Thrombosis and haemostasis High 22234719
2016 SERPINC1 contains functional vitamin D receptor elements (VDREs) in its promoter and intron 1; mutations disrupting these VDREs cause moderate antithrombin deficiency, and treatment of HepG2 cells with the vitamin D analog paricalcitol dose-dependently increases SERPINC1 transcripts and secreted antithrombin, demonstrating transcriptional regulation of SERPINC1 by vitamin D. Sequencing of promoter and intronic regions; in silico VDRE identification; HepG2 cell incubation with paricalcitol; RT-PCR and measurement of secreted antithrombin PloS one Medium 27003919
2016 Defective N-glycosylation (hypoglycosylation) of antithrombin, caused by mutations in N-glycosylation pathway genes rather than SERPINC1 itself, causes antithrombin deficiency and thrombophilia; this can be transient (associated with alcohol intake) and affects multiple N-glycoproteins. Electrophoresis, HPLC, Q-TOF analysis of glycoforms; whole exome sequencing; clinical and biochemical characterization of patients Journal of thrombosis and haemostasis Medium 27214821
2016 A small in-frame deletion of four amino acids (INEL) in exon 4 of SERPINC1 causes type I antithrombin deficiency by promoting endoplasmic reticulum (ER) stress, which leads to intracellular retention and ER-associated degradation of the mutant antithrombin protein; suppression of ER stress enhanced secretion and inhibition of ER-associated degradation suppressed release. Whole-exome sequencing; cell-based expression studies; ER stress assays; pharmacological inhibition of ER stress and ER-associated degradation Oncotarget High 27708219
2022 Two SERPINC1 variants (p.Glu227Lys and p.Asn224His) impair or abolish N-glycosylation at Asn224, causing a form of antithrombin deficiency not detected by routine functional assays (normal anti-FXa/anti-FIIa activity) but detectable by impaired anti-FVIIa activity and heat stability testing; the β glycoform lacking two N-glycans shows reduced secretion, increased heparin affinity, no inhibitory activity, and a potential dominant-negative effect; Lysine residues near the N-glycosylation sequon impair glycosylation efficacy. Eukaryotic expression model; anti-FXa, anti-FIIa, anti-FVIIa activity assays; heat stability test; thrombin generation assay; site-directed mutagenesis of N-glycosylation sequon flanking residues; glycoform analysis Blood High 35486842
2014 A novel SERPINC1 mutation g.1267G>A (p.A391T) in exon 7 reduces the heparin binding capacity of antithrombin by 44.25% compared to controls, without affecting AT activity or antigen levels, demonstrating that this residue is involved in heparin binding function. SERPINC1 gene sequencing; heparin binding assay (heparin-antithrombin binding ratio); coagulation parameter measurement Thrombosis research Medium 25312341
2020 A SERPINC1 missense mutation (Cys462Tyr) disrupts the disulfide bond between Cys279 and Cys462, leading to type I hereditary antithrombin deficiency with reduced antigen and activity levels, demonstrating the structural importance of this disulfide bond. SERPINC1 exon sequencing; AT activity and antigen measurement; bioinformatics structural analysis of disulfide bond disruption; family segregation Clinical biochemistry Medium 32745482
2023 A SERPINC1 frameshift mutation c.1247dupC (p.Ser417LysfsTer48) results in impaired secretion of mutant antithrombin, causing quantitative (type I) antithrombin deficiency; the mutant protein is retained intracellularly rather than secreted. Plasmid transfection of GFP- and HA-tagged wild-type and mutant SERPINC1 into HEK293T cells; confocal laser scanning microscopy; Western blot Thrombosis journal Medium 38347553
2023 A SERPINC1 nonsense mutation p.Lys322stop generates a truncated antithrombin protein that is retained intracellularly and not secreted, as demonstrated by absence of mutant protein in culture medium despite its presence in cell lysates; mRNA levels are unaffected, placing the defect at the protein secretion level. RT-qPCR for mRNA quantification; Western blot and ELISA for protein; immunocytofluorescence for localization; expression in HEK293T cells Orphanet journal of rare diseases Medium 39707449
2023 A SERPINC1 mutation p.Gly308Cys causes proteasome-dependent degradation of antithrombin in the cytoplasm by altering local residue hydrophobicity, demonstrated by rescue of protein levels with proteasome inhibitor MG132; a co-inherited p.Asn107* mutation causes nonsense-mediated mRNA decay, eliminating the transcript. RT-qPCR; Western blot; ELISA; immunocytofluorescence; proteasome inhibitor (MG132) treatment; expression in HEK293T cells Gene High 38104950
2025 The SERPINC1 variant p.Leu158Gln causes type I antithrombin deficiency by impairing secretion and causing cytoplasmic retention/aggregation of the mutant protein; the mutation does not disrupt conserved disulfide bonds or N-glycosylation sites but reduces both quantity and functional activity of secreted antithrombin. Sanger sequencing; expression in HEK293T cells; immunoblotting; immunofluorescence; ELISA; computational structural analysis Thrombosis journal Medium 41267092
2019 Recurrent SERPINC1 mutations at residues Arg294 and Val295 (p.Arg294Leu, p.Arg294Cys, p.Arg294His, p.Val295Met) cause increased endogenous thrombin potential without affecting standard antithrombin antigen levels or anticoagulant activity, identifying a functional hotspot where mutations impair anticoagulant capacity undetectable by standard assays. SERPINC1 sequencing in 1,304 VTE patients and controls; recombinant protein expression model; thrombin generation assay (endogenous thrombin potential); anti-FXa and anti-FIIa activity assays Oncotarget High 29137435
2009 The SERPINC1 rs2227589 SNP (intron 1) is functionally associated with slightly but significantly lower plasma antithrombin activity and antigen levels in carriers of the A allele; the linked promoter polymorphism rs3138521 has no independent functional consequence. Genotyping of 298 blood donors; plasma anti-FXa activity and antithrombin antigen measurement; linkage disequilibrium analysis Haematologica Medium 19229049
2019 In grass carp, KLF2A (Krüppel-like factor 2a) transcription factor positively regulates serpinc1 expression through direct promoter interaction, and both KLF2A and serpinc1 overexpression activate interferon responses and suppress reovirus replication. Dual-luciferase reporter assay; dose-dependent overexpression; RT-PCR; viral replication assay in CIK cells Fish & shellfish immunology Low 36400369
2026 The SERPINC1 p.M313T variant introduces aberrant O-linked glycosylation within the breach region of antithrombin, causing conformational instability (reduced thermostability, increased latent/denatured forms, increased RCL flexibility) despite paradoxically enhanced inhibitory activity, explaining a transient antithrombin deficiency phenotype. Thrombin generation test; thermal stability assay; native-urea PAGE; recombinant protein expression; glycosidase enzymatic treatment; molecular dynamics simulation; AT activity assays Thrombosis and haemostasis High 41862219
2019 SERPINC1 large deletions detected by MLPA in Japanese patients include Alu-mediated and non-Alu-mediated complex genomic rearrangements; non-Alu events can be explained by the fork stalling and template switching (FoSTeS) mechanism. PCR-mediated direct sequencing; MLPA for copy number; in vitro exon trap assay for splice-site mutations; complex rearrangement breakpoint analysis Thrombosis research Medium 31030036
2024 A SERPINC1 frameshift mutation c.1377delC (p.Asn460Thrfs*20) leads to reduced AT protein expression in transfected cells and is predicted to disrupt the Cys279–Cys462 disulfide bond; a co-analyzed p.Arg229* nonsense mutation produces a truncated protein detected at 35 kDa without significant change in protein localization. Next-generation sequencing; Sanger sequencing; lentiviral plasmid transfection into HEK293T cells; Western blot; immunofluorescence localization; bioinformatics structural analysis Thrombosis journal Medium 36624481

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1989 Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation. The Journal of clinical investigation 60 2794060
2017 SerpinC1/Antithrombin III in kidney-related diseases. Clinical science (London, England : 1979) 55 28424376
2013 Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. Thrombosis and haemostasis 54 24196373
2017 Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. Thrombosis and haemostasis 43 28300866
2016 Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect. Journal of thrombosis and haemostasis : JTH 43 27214821
1990 Immunohistochemical localization of nuclear 3,5,3'-triiodothyronine receptor proteins in rat tissues studied with antiserum against C-ERB A/T3 receptor. Endocrinology 43 2169399
1990 Production and significance of TGF-beta in AT-3 metastatic cell line established from the Dunning rat prostatic adenocarcinoma. Biochemical and biophysical research communications 41 2302241
1992 De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 36 1505975
2017 SERPINC1 gene mutations in antithrombin deficiency. British journal of haematology 34 28317092
1995 Effects of anti-E2 monoclonal antibody on sindbis virus replication in AT3 cells expressing bcl-2. Journal of virology 32 7474120
2009 Functional consequences of the prothrombotic SERPINC1 rs2227589 polymorphism on antithrombin levels. Haematologica 30 19229049
2005 17beta-estradiol reduces cardiac hypertrophy mediated through the up-regulation of PI3K/Akt and the suppression of calcineurin/NF-AT3 signaling pathways in rats. Life sciences 30 16183079
2012 Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency. Thrombosis and haemostasis 27 22234719
1990 DdeI polymorphism in intron 5 of the ATIII gene. Nucleic acids research 27 1977130
1984 Locus specificity of mutagenicity of 2,4-diaminotoluene in both L5178Y mouse lymphoma and AT3-2 Chinese hamster ovary cells. Mutation research 27 6694660
2022 Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays. Blood 26 35486842
1989 Human antithrombin II (AT3) gene length polymorphism revealed by the polymerase chain reaction. Nucleic acids research 26 2771663
2018 The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications. Thrombosis research 25 30458337
2009 Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency. Human genetics 23 19760264
2021 Serpinc1 Acts as a Tumor Suppressor in Hepatocellular Carcinoma Through Inducing Apoptosis and Blocking Macrophage Polarization in an Ubiquitin-Proteasome Manner. Frontiers in oncology 22 34881176
1994 Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. Human genetics 21 7959685
1991 Congenital antithrombin III deficiency (AT-III Kyoto): identification of a point mutation altering arginine-406 to methionine behind the reactive site. Thrombosis research 20 1776135
2016 Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency. PloS one 15 27003919
2023 Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency. Thrombosis journal 14 36624481
2020 MicroRNA-155 governs SHIP-1 expression and localization in NK cells and regulates subsequent infiltration into murine AT3 mammary carcinoma. PloS one 13 32040476
2019 Molecular basis of SERPINC1 mutations in Japanese patients with antithrombin deficiency. Thrombosis research 13 31030036
1991 A NheI RFLP in the human antithrombin III gene (1q23-q25) (AT3). Nucleic acids research 13 1675011
2022 Synergistic effects of nab-PTX and anti-PD-1 antibody combination against lung cancer by regulating the Pi3K/AKT pathway through the Serpinc1 gene. Frontiers in oncology 12 35992834
2021 Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia. Genes 11 34207366
2014 Increased expression of NF-AT3 and NF-AT4 in the atria correlates with procollagen I carboxyl terminal peptide and TGF-β1 levels in serum of patients with atrial fibrillation. BMC cardiovascular disorders 11 25422138
1992 Localization of basic fibroblast growth factor (bFGF) in a metastatic cell line (AT-3) established from the Dunning prostatic carcinoma of rat: application of a specific monoclonal antibody. Advances in experimental medicine and biology 11 1283495
1994 Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups. Molecular and cellular probes 10 7935513
1988 Production of IGF-II-related peptide by an anaplastic cell line (AT-3) established from the Dunning prostatic carcinoma of rats. In vitro cellular & developmental biology : journal of the Tissue Culture Association 10 3182557
2023 Evaluation of maternal serum SERPINC1, E-selectin, P-selectin, RBP4 and PP13 levels in pregnancies complicated with preeclampsia. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 9 36822662
2020 Novel SERPINC1 missense mutation (Cys462Tyr) causes disruption of the 279Cys-462Cys disulfide bond and leads to type Ⅰ hereditary antithrombin deficiency. Clinical biochemistry 9 32745482
2019 Tandem gene duplication and recombination at the AT3 locus in the Solanaceae, a gene essential for capsaicinoid biosynthesis in Capsicum. PloS one 8 30673734
2014 Association of Deficiency of Coagulation Factors (Prs, Prc, ATIII) and FVL Positivity with Preeclampsia and/or Eclampsia in Pregnant Women. International journal of hematology-oncology and stem cell research 8 25774262
2023 A novel fold for acyltransferase-3 (AT3) proteins provides a framework for transmembrane acyl-group transfer. eLife 7 36630168
2020 New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling. BMC medical genetics 7 32252658
2019 Association of SERPINC1 Gene Polymorphism (rs2227589) With Pulmonary Embolism Risk in a Chinese Population. Frontiers in genetics 7 31572449
2014 Prothrombotic SERPINC1 gene polymorphism may affect heparin sensitivity among different ethnicities of Chinese patients receiving heart surgery. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 7 25361738
1995 Functional analysis of an unusual length polymorphism in the human antithrombin III (AT3) gene promoter. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 7 8562837
2017 Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency. Oncotarget 6 29137435
2016 Subtypes of SERPINC1 mutations and the thrombotic phenotype of inherited antithrombin deficient individuals in Chinese Han population. Blood cells, molecules & diseases 6 27863268
1997 Enzymology of oxidation of tropic acid to phenylacetic acid in metabolism of atropine by Pseudomonas sp. strain AT3. Journal of bacteriology 6 9023182
2022 Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency. Frontiers in neurology 5 35720094
2019 A series of 10 Polish patients with thromboembolic events and antithrombin deficiency: two new c.1154-1 G>C and c.1219-534 A>G SERPINC1 gene splicing mutations. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 5 31157679
2011 A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 5 21885952
2000 Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis. American journal of medical genetics 5 10766996
2023 Assessment of maternal serum SERPINC1, E-selectin, P-selectin, and RBP4 levels in pregnancies with early- and late-onset preeclampsia. The journal of obstetrics and gynaecology research 4 36604828
2023 Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency-first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository. Journal of thrombosis and haemostasis : JTH 4 36764659
2022 miR-3064-5p and miR-4745-5p affect heparin sensitivity in patients undergoing cardiac surgery by regulating AT-III and factor X mRNA levels. Frontiers in physiology 4 36035472
2022 Missense mutation of SERPINC1 (p.Ser426Leu) in a young patient presenting as refractory and recurrent venous thromboembolism: A case report. Frontiers in cardiovascular medicine 4 36093136
2021 Prioritization of human well-being spectrum related GWAS-SNVs using ENCODE-based web-tools predict interplay between PSMC3, ITIH4, and SERPINC1 genes in modulating well-being. Journal of psychiatric research 4 34883412
2016 A small deletion in SERPINC1 causes type I antithrombin deficiency by promoting endoplasmic reticulum stress. Oncotarget 4 27708219
2012 A novel mutation in the SerpinC1 gene presenting as unprovoked neonatal cerebral sinus venous thrombosis in a kindred. Pediatric blood & cancer 4 22997155
1996 Antitumor effect of CPT-11, a new derivative of camptothecin, against human prostate cancer (PC-3) in vitro and prostate rat tumor (AT-3) in vivo. Methods and findings in experimental and clinical pharmacology 4 9121221
2024 Circulating exosomal protein EFEMP1 and SERPINC1 as diagnostic biomarkers for epithelial ovarian cancer. Translational oncology 3 39317065
2021 Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene. Stem cell research 3 34973562
2020 Phenotypic and Genotypic Analysis of a Hereditary Antithrombin Deficiency Pedigree Due to a Novel SERPINC1 Mutation (p.Met281Thr). Hamostaseologie 3 32450575
2015 Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 3 25083771
2014 Identification of a new SERPINC1 mutation in a Kazak family that alters the heparin binding capacity of antithrombin. Thrombosis research 3 25312341
2011 A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. Annals of clinical and laboratory science 3 21325262
1978 Intra-H-2 recombination inH-2(b)/H-2 (t1) heterozygotes in the mouse : II. Characterization of recombinant haplotypesat2, at3, andat4. Immunogenetics 3 21302095
2025 Coagulation Matters: ATIII-Enriched Biomolecular Corona Enhances the Hemocompatibility of PEG Nanoparticles. Advanced healthcare materials 2 40583497
2024 SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency. Thrombosis journal 2 38347553
2024 Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia. Orphanet journal of rare diseases 2 39707449
2023 Argatroban Resistance and Successful Adjunctive Anticoagulation for Cerebral Venous Sinus Thrombosis With SERPINC1 Mutation: A Case Report. Neurology. Clinical practice 2 37064580
2023 Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female. Case reports in medicine 2 37124980
2023 Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report. Thrombosis journal 2 38093370
2023 Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia. Gene 2 38104950
2022 Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up. Thrombosis journal 2 36578065
2020 A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2 31990753
2016 Identification of 2 Novel Polymorphisms and rs3138521 in 5' Untranslated Region of SERPINC1 Gene in North Indian Population With Deep Vein Thrombosis. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2 27279637
2025 Clinical and functional characterization of a novel heterozygous mutation c.473T > A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia. Thrombosis journal 1 41267092
2024 Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava. Thrombosis journal 1 39129027
2023 The Effects of Mammary Gland ATIII Overexpression on the General Health of Dairy Goats and Their Anti-Inflammatory Response to LPS Stimulation. International journal of molecular sciences 1 37894983
2022 Patients with SERPINC1 rs2227589 polymorphism found to have multiple cerebral venous sinus thromboses despite a normal antithrombin level: A case report. World journal of clinical cases 1 35097087
2022 Krüppel-like factor 2a (KLF2A) suppresses GCRV replication by upregulating serpinc1 expression in Ctenopharyngodon idellus kidney (CIK) cells. Fish & shellfish immunology 1 36400369
2019 A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report. Medicine 1 30608445
2006 AT2-AT3-profiling: a new look at synonymous codon usage. Journal of theoretical biology 1 16930630
1994 [Clinical relevance of determination of plasma ATIII and alpha 2 PI activities in patients with DIC--application of the molecular markers for the analysis of pathophysiology of DIC]. Rinsho byori. The Japanese journal of clinical pathology 1 8107283
2026 Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort. Thrombosis research 0 41861498
2026 SERPINC1 p.M313T Variant Induces Aberrant O-Glycosylation and Leads to Conformational Instability-Related Transient Antithrombin Deficiency. Thrombosis and haemostasis 0 41862219
2025 Troponin i-induced cardiac inflammation and dysfunction in mice: a comparative study with the AT-3 tumor-bearing model. Cardio-oncology (London, England) 0 39940032
2025 The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report. Journal of medical case reports 0 40050974
2025 Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene. Thrombosis journal 0 41366676
2024 Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis. Hamostaseologie 0 38224959
2024 Haplotype analysis, regulatory elements and docking simulation of structural models of different AT3 copies in the genus Capsicum. Journal of biomolecular structure & dynamics 0 38354741
2024 [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 38448020
2024 Antithrombin deficiency caused by SERPINC1 gene mutation in white matter lesions: A case report. Medicine 0 38579030
2024 Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency. International journal of hematology 0 38801563
2024 Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report. Medicine 0 39093784
2024 A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 0 39526669
2023 Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H). Stem cell research 0 37385134
2023 Case report: A case of new mutation in SERPINC1 leading to thrombotic microangiopathy. Frontiers in genetics 0 37829283
2022 First Report of an α Chain Variant [Hb Coombe Park (HBA2: c.382A>G)] from India, Coinherited with a Novel SERPINC1 Gene Mutation: A Double Whammy? Hemoglobin 0 36120956
2022 Inherited antithrombin deficiency caused by a mutation in the SERPINC1 gene: A case report. Medicine 0 36343066
2019 Safe childbirth for a type 1 antithrombin-deficient woman with novel mutation in the SERPINC1 gene undergoing antithrombin concentrate therapy. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 0 30431449
2012 Schematic for efficient computation of GC, GC3, and AT3 bias spectra of genome. Bioinformation 0 22368390