SERPINC1
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Also known as ATIIIMGC22579
Summary
SERPINC1 (serpin family C member 1, HGNC:775) is a protein-coding gene on chromosome 1q25.1, encoding Antithrombin-III (P01008). Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade.
The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19).
Source: NCBI Gene 462 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hereditary antithrombin deficiency (Definitive, ClinGen)
- GWAS associations: 2
- Clinical variants (ClinVar): 480 total — 95 pathogenic, 67 likely-pathogenic
- Phenotypes (HPO): 20
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_000488
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:775 |
| Approved symbol | SERPINC1 |
| Name | serpin family C member 1 |
| Location | 1q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATIII, MGC22579 |
| Ensembl gene | ENSG00000117601 |
| Ensembl biotype | protein_coding |
| OMIM | 107300 |
| Entrez | 462 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000367698, ENST00000487183, ENST00000494024, ENST00000874322, ENST00000874323, ENST00000874324, ENST00000874325, ENST00000874326, ENST00000874327, ENST00000874328, ENST00000874329, ENST00000874330, ENST00000874331, ENST00000874332
RefSeq mRNA: 7 — MANE Select: NM_000488
NM_000488, NM_001365052, NM_001386302, NM_001386303, NM_001386304, NM_001386305, NM_001386306
CCDS: CCDS1313
Canonical transcript exons
ENST00000367698 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000789908 | 173909552 | 173909942 |
| ENSE00000789909 | 173910754 | 173910891 |
| ENSE00001383315 | 173907450 | 173907514 |
| ENSE00001876994 | 173903800 | 173904065 |
| ENSE00001944151 | 173917219 | 173917327 |
| ENSE00003578986 | 173914553 | 173914919 |
| ENSE00003644352 | 173911799 | 173912014 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 99.73.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 11.3159 / max 5017.9498, expressed in 63 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15971 | 6.0410 | 47 |
| 15970 | 4.2541 | 46 |
| 15974 | 0.3569 | 11 |
| 15967 | 0.3218 | 9 |
| 15972 | 0.1954 | 11 |
| 15975 | 0.0473 | 9 |
| 15969 | 0.0467 | 9 |
| 15973 | 0.0437 | 8 |
| 15968 | 0.0090 | 4 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.73 | gold quality |
| liver | UBERON:0002107 | 99.72 | gold quality |
| adrenal tissue | UBERON:0018303 | 62.15 | gold quality |
| colonic epithelium | UBERON:0000397 | 61.46 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 61.22 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 61.20 | gold quality |
| stromal cell of endometrium | CL:0002255 | 61.04 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 60.56 | gold quality |
| oocyte | CL:0000023 | 58.33 | gold quality |
| islet of Langerhans | UBERON:0000006 | 57.44 | gold quality |
| kidney | UBERON:0002113 | 57.22 | gold quality |
| renal glomerulus | UBERON:0000074 | 56.22 | gold quality |
| nephron tubule | UBERON:0001231 | 55.71 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 55.26 | gold quality |
| kidney epithelium | UBERON:0004819 | 54.58 | gold quality |
| gastrocnemius | UBERON:0001388 | 54.55 | gold quality |
| mucosa of stomach | UBERON:0001199 | 54.29 | gold quality |
| metanephros | UBERON:0000081 | 53.86 | silver quality |
| blood | UBERON:0000178 | 53.16 | gold quality |
| paraflocculus | UBERON:0005351 | 52.96 | gold quality |
| cortex of kidney | UBERON:0001225 | 52.38 | gold quality |
| muscle of leg | UBERON:0001383 | 51.98 | gold quality |
| right coronary artery | UBERON:0001625 | 51.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 51.62 | gold quality |
| quadriceps femoris | UBERON:0001377 | 51.55 | gold quality |
| muscle organ | UBERON:0001630 | 51.19 | gold quality |
| pancreas | UBERON:0001264 | 51.08 | gold quality |
| granulocyte | CL:0000094 | 51.07 | silver quality |
| lower esophagus | UBERON:0013473 | 50.95 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 50.91 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-130473 | yes | 2859.31 |
| E-HCAD-9 | yes | 54.72 |
| E-MTAB-10553 | yes | 31.71 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF4, CEBPA, FOXA1, FOXA2, HNF4A, NR2F1, RXRA, SP1, THRA, THRB
Literature-anchored findings (GeneRIF, showing 40)
- We report 5 children from 3 families with homozygous antithrombin deficiency type II affecting the heparin binding site (99 Leu to Phe mutation). (PMID:11686316)
- The single base substitution of G to A at nucleotide 2709 was found in a proband with a family history of venous thrombosis. This results in a substitution of 82 Ser by Asn, creating a new glycosylation site causing type I antithrombin deficiency. (PMID:11686319)
- The karyotype showed 46XY, del(1)(q23q31.2), the antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. (PMID:11754060)
- A specific pentasaccharide sequence (H5) in high affinity heparin induces a conformational change in antithrombin that is particularly important for factor Xa (fXa) inhibition (factor Xa) (PMID:11854268)
- Antithrombin prevents endotoxin-induced hypotension by inhibiting the induction of nitric oxide synthase in rat lung. (PMID:11861278)
- Molecular biological basis and diagnosis of hereditary defects (review) (PMID:12193972)
- a new natural antithrombin mutation that confirms the critical contribution of lysine 114 to the binding of the core heparin pentasaccharide, with the replacement of lysine 114 by glutamate causing a complete loss in affinity (PMID:12353073)
- Arg is required in position 129 for high-affinity pentasaccharide binding of heparin to antithrombin, whereas Lys125 and Lys114 do not participate in intramolecular interactions of this type and can be acceptably replaced with Arg. (PMID:12369826)
- Data show that anti-thrombin is widely expressed in prostate cancer but is gradually lost in tumors of high Gleason grade. (PMID:12466122)
- hydrophobic residues Phe-122 and Phe-121 play a critical role in heparin binding and activation of antithrombin (PMID:12556442)
- A new antithrombin mutation, Phe229Leu, spontaneously polymerized in the proband’s circulation, causing cerebral venous thrombosis. Molecular modeling suggested how the mutation might destabilize the protein and favor polymerization. (PMID:12595305)
- study of the possibility that all pentasaccharide AT-binding sequences in antithrombin-heparin complex may catalyze factor Xa inhibition (PMID:12695507)
- Five novel and two previously reported point mutations in the antithrombin gene causing venous thrombosis were identified; the novel L409P mutation is a type 2 pleiotropic effects (PE) deficiency and it is highly conserved among other serpins. (PMID:12894857)
- findings suggest that antithrombin exosites responsible for enhancing the rates of factor Xa and factor IXa inhibition in the conformationally activated inhibitor lie in strand 3 of beta-sheet C of the serpin (PMID:14532267)
- endotoxin-induced adhesion of leukocytes to endothelium can be reversed by ligation of syndecan-4 with antithrombin’s heparin-binding site (PMID:14652650)
- identified two missense mutations affecting the shutter region of ATIII: P80S and G424R; the mutant ATIII is an inactive disulfide-linked dimer whose properties are consistent with head-to-head insertion of the reactive loop (PMID:15140129)
- Renal hypertension was caused by renal artery obstruction due to thrombus formation. This thrombus formation was attributed to antithrombin deficiency caused by a novel SERPINCI gene mutation (AT III Akita, M352R). (PMID:15338392)
- hAT3 might increase hepatic tissue levels of PGI2 via enhancement of hepatic I/R-induced activation of capsaicin-sensitive sensory neurons, thereby reducing liver injury in rats (PMID:15630490)
- clinical and biological features of heterozygotes who carry the N187D or N187K mutations; also investigated AT thermostability as well as the presence of latent or polymerized AT in plasma (PMID:15630491)
- The two mutated antithrombins were the same as that of wild type, but the specific activity of the E381del mutant decreased significantly compared with that of wild type. (PMID:15733967)
- This review assembles the available experimental and clinical data on biological mechanisms of antithrombin in inflammatory coagulation activation. (PMID:16542481)
- 22 novel SERPINC1 mutations are associated with antithrombin deficiency. (PMID:16705712)
- These results suggest that heparin-binding proteins influence the conformational equilibrium of iduronic acid residues that are directly or indirectly involved in binding. (PMID:16796563)
- tyrosine 131 in the native conformation of antithrombin III activates it for factor Xa inhibition (PMID:16940049)
- This study reports that the poor inhibitory activity of the circulating of AT is partially conferred by intramolecular contacts that restrain the RCL, orient the P1 residue away from attacking proteases, and block the exosite used in protease recognition. (PMID:16973611)
- Antithrombin A384S mutation is a prevalent genetic risk factor for venous thrombosis and is the most frequent cause of antithrombin deficiency in white populations. (PMID:17244682)
- pulmonary endothelium contributes to the antithrombin III metabolism with a 0.023 breakdown rate; The data support the hypothesis of a main endothelial catabolism of antithrombin III (PMID:17413759)
- findings suggested that FS-3Stop and Met-32Thr mutations are responsible for type I antithrombin deficiency, whereas Ser116Pro and Ala59Val mutations contribute to type II antithrombin deficiency (PMID:17492649)
- REVIEW OF AT3 BINDING INTERACTIONS, HEREDITARY AT3 DEFICIENCY, LOW LEVEL IN DIC (PMID:17597998)
- Report novel antithrombin heparin-binding site variant associated with low thrombotic risk. (PMID:17849067)
- High antithrombin III in cerebrospinal fluid is associated with CNS lymphoma (PMID:18056677)
- A previously unreported heterozygous large deletion spanning exons 1-6 of the SERPINC1 gene was responsible for hereditary antithrombin deficiency in a Korean family. (PMID:18208532)
- Identification in human milk of complexes of matriptase with ATIII, A1AT, or A2AP, provides evidence that the proteolytic activity of matriptase, from cells that express no or low levels of HAI-1, may be controlled by secreted serpins. (PMID:18550704)
- crystallographic structure of a stable serpin dimer which reveals a domain swap of more than 50 residues, including two long antiparallel beta-strands inserting in the centre of the principal beta-sheet of the neighbouring monomer (PMID:18923394)
- Prevalence of genetic mutations in SERPINC1 in Japanese patients with venous thrombosis is reported. (PMID:18954896)
- functional effect of the rs2227589 polymorphism not explained by its linkage with the promoter polymorphism that supports the moderate thrombotic risk associated with the A allele. (PMID:19229049)
- The study shows that Antithrombin Cambridge II (A384S) significantly increases the risk of myocardial infarction . (PMID:19277409)
- AT-III directly acts on platelets and suppresses ADP-induced platelet granule secretion due to inhibiting HSP27 phosphorylation via p44/p42 MAPK and p38 MAPK. (PMID:19631608)
- These results indicate that P2-Gly plays a key role in determining the S2 sub-site specificity and target protease selectivity of AT in circulation. (PMID:19715676)
- Data show that large deletions explain almost half of otherwise unexplained type I AT-inherited deficiency cases. (PMID:19760264)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | serpinc1 | ENSDARG00000042684 |
| mus_musculus | Serpinc1 | ENSMUSG00000026715 |
| rattus_norvegicus | Serpinc1 | ENSRNOG00000002783 |
Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), SERPINA4 (ENSG00000100665), SERPINE1 (ENSG00000106366), SERPINI2 (ENSG00000114204), SERPINA7 (ENSG00000123561), SERPINB6 (ENSG00000124570), SERPINF1 (ENSG00000132386), AGT (ENSG00000135744), SERPINE2 (ENSG00000135919), SERPINA10 (ENSG00000140093), SERPING1 (ENSG00000149131), SERPINH1 (ENSG00000149257), SERPINI1 (ENSG00000163536), SERPINA12 (ENSG00000165953), SERPINB7 (ENSG00000166396), SERPINB8 (ENSG00000166401), SERPINB12 (ENSG00000166634), SERPINF2 (ENSG00000167711), SERPINA9 (ENSG00000170054), SERPINA6 (ENSG00000170099), SERPINB9 (ENSG00000170542), SERPINA11 (ENSG00000186910), SERPINA5 (ENSG00000188488), SERPINA3 (ENSG00000196136), SERPINA1 (ENSG00000197249), SERPINB2 (ENSG00000197632), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)
Protein
Protein identifiers
Antithrombin-III — P01008 (reviewed: P01008)
Alternative names: Serpin C1
All UniProt accessions (2): A0A2S0BDD1, P01008
UniProt curated annotations — full annotation on UniProt →
Function. Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.
Subunit / interactions. Forms protease inhibiting heterodimer with TMPRSS7.
Subcellular location. Secreted. Extracellular space.
Tissue specificity. Found in plasma.
Post-translational modifications. Phosphorylated by FAM20C in the extracellular medium.
Disease relevance. Antithrombin III deficiency (AT3D) [MIM:613118] An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the serpin family.
RefSeq proteins (7): NP_000479, NP_001351981, NP_001373231, NP_001373232, NP_001373233, NP_001373234, NP_001373235 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000215 | Serpin_fam | Family |
| IPR023795 | Serpin_CS | Conserved_site |
| IPR023796 | Serpin_dom | Domain |
| IPR033829 | Antithrombin_3_serpin_domain | Domain |
| IPR036186 | Serpin_sf | Homologous_superfamily |
| IPR042178 | Serpin_sf_1 | Homologous_superfamily |
| IPR042185 | Serpin_sf_2 | Homologous_superfamily |
Pfam: PF00079
UniProt features (174 total): sequence variant 102, strand 26, helix 15, sequence conflict 8, turn 6, glycosylation site 4, disulfide bond 3, binding site 3, mutagenesis site 2, modified residue 2, signal peptide 1, chain 1, site 1
Structure
Experimental structures (PDB)
27 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3KCG | X-RAY DIFFRACTION | 1.7 |
| 2B5T | X-RAY DIFFRACTION | 2.1 |
| 1TB6 | X-RAY DIFFRACTION | 2.5 |
| 1E04 | X-RAY DIFFRACTION | 2.6 |
| 1JVQ | X-RAY DIFFRACTION | 2.6 |
| 1NQ9 | X-RAY DIFFRACTION | 2.6 |
| 2ANT | X-RAY DIFFRACTION | 2.6 |
| 1E05 | X-RAY DIFFRACTION | 2.62 |
| 1OYH | X-RAY DIFFRACTION | 2.62 |
| 1R1L | X-RAY DIFFRACTION | 2.7 |
| 2BEH | X-RAY DIFFRACTION | 2.7 |
| 1T1F | X-RAY DIFFRACTION | 2.75 |
| 1DZG | X-RAY DIFFRACTION | 2.8 |
| 1LK6 | X-RAY DIFFRACTION | 2.8 |
| 2B4X | X-RAY DIFFRACTION | 2.8 |
| 2ZNH | X-RAY DIFFRACTION | 2.8 |
| 4EB1 | X-RAY DIFFRACTION | 2.8 |
| 1DZH | X-RAY DIFFRACTION | 2.85 |
| 1AZX | X-RAY DIFFRACTION | 2.9 |
| 1BR8 | X-RAY DIFFRACTION | 2.9 |
| 1E03 | X-RAY DIFFRACTION | 2.9 |
| 2HIJ | X-RAY DIFFRACTION | 2.9 |
| 1ANT | X-RAY DIFFRACTION | 3 |
| 3EVJ | X-RAY DIFFRACTION | 3 |
| 1SR5 | X-RAY DIFFRACTION | 3.1 |
| 1ATH | X-RAY DIFFRACTION | 3.2 |
| 2GD4 | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P01008-F1 | 85.34 | 0.70 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 425–426 (reactive bond)
Ligand- & substrate-binding residues (3): 81; 161; 177
Post-translational modifications (2): 63, 68
Disulfide bonds (3): 40–160, 53–127, 279–462
Glycosylation sites (4): 187, 224, 128, 167
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 414 | reduces interaction with thrombin by 99%. |
| 414 | reduces interaction with thrombin by 80%. |
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-9769733 | Fibrin formation |
| R-HSA-9769735 | Initiation of coagulation cascade |
| R-HSA-9769739 | Regulation of clotting cascade |
| R-HSA-9769743 | Amplification and propagation of coagulation cascade |
| R-HSA-140837 | |
| R-HSA-140875 | |
| R-HSA-109582 | Hemostasis |
| R-HSA-140877 | |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 230 (showing top):
GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_COAGULATION, GNF2_GSTM1, GNF2_HPN, TGACCTY_ERR1_Q2, SHEPARD_BMYB_MORPHOLINO_DN, COUP_01, GOBP_WOUND_HEALING, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, GOBP_REGULATION_OF_RESPONSE_TO_WOUNDING, GNF2_LCAT, INGRAM_SHH_TARGETS_UP, HSIAO_LIVER_SPECIFIC_GENES, GOBP_REGULATION_OF_RESPONSE_TO_STRESS
GO Biological Process (3): blood coagulation (GO:0007596), regulation of blood coagulation (GO:0030193), hemostasis (GO:0007599)
GO Molecular Function (6): protease binding (GO:0002020), serine-type endopeptidase inhibitor activity (GO:0004867), heparin binding (GO:0008201), identical protein binding (GO:0042802), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Coagulation pathway | 4 |
| Metabolism of proteins | 2 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| blood coagulation | 1 |
| regulation of response to external stimulus | 1 |
| regulation of coagulation | 1 |
| regulation of wound healing | 1 |
| regulation of hemostasis | 1 |
| regulation of body fluid levels | 1 |
| enzyme binding | 1 |
| serine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| protein binding | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| extracellular region | 1 |
Protein interactions and networks
STRING
1718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERPINC1 | F2 | P00734 | 980 |
| SERPINC1 | PLG | P00747 | 960 |
| SERPINC1 | F3 | P13726 | 958 |
| SERPINC1 | TFPI | P10646 | 935 |
| SERPINC1 | VTN | P01141 | 924 |
| SERPINC1 | PLAT | P00750 | 915 |
| SERPINC1 | THBD | P07204 | 913 |
| SERPINC1 | A2M | P01023 | 912 |
| SERPINC1 | F7 | P08709 | 882 |
| SERPINC1 | F9 | P00740 | 864 |
| SERPINC1 | KLK4 | Q9Y5K2 | 864 |
| SERPINC1 | ALB | P02768 | 863 |
| SERPINC1 | F8 | P00451 | 809 |
| SERPINC1 | PF4V1 | P10720 | 803 |
| SERPINC1 | FGA | P02671 | 800 |
IntAct
50 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF146 | TNKS | psi-mi:“MI:0914”(association) | 0.790 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| GPX7 | GAK | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| SERPINC1 | SERPINC1 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| DDX31 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINC1 | BTD | psi-mi:“MI:0914”(association) | 0.530 |
| ING4 | KAT7 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| SPSB4 | ARHGEF10 | psi-mi:“MI:0914”(association) | 0.530 |
| C1QBP | F2 | psi-mi:“MI:0914”(association) | 0.460 |
| SERPINC1 | FAM20C | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| SERPINC1 | F9 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SERPINC1 | F2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLCG1 | SERPINC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD5L | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LECT2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| HR | SERPINC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (65): TUBB8 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), OS9 (Affinity Capture-MS), ISCA2 (Affinity Capture-MS), SUCLG1 (Affinity Capture-MS), BTD (Affinity Capture-MS), PFAS (Co-fractionation), TUBB1 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), SERPINC1 (Affinity Capture-MS), BTD (Affinity Capture-MS), SERPINC1 (Affinity Capture-MS), SUCLG1 (Affinity Capture-MS), OS9 (Affinity Capture-MS)
ESM2 similar proteins: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A0A7H0DNF9, B3RFC3, E2RVI8, O73860, O75635, P01008, P01012, P01014, P05120, P07092, P07093, P07385, P0DSW3, P12388, P13909, P14754, P15059, P19104, P20961, P22777, P22922, P42926, P50449, P68565, P68566, P79335, P80034, Q06B72, Q06B74, Q06B75, Q07235, Q27085, Q27086, Q5MGH0, Q5R5A3, Q6J201
Diamond homologs: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O02739, O08800, O35684, O54757, O54758, O54759, O54760, O73790, O73860, O75635, O75830, P01008, P01011, P01012, P01014, P05120, P05619, P12388, P17475, P19104, P22323, P22325, P22922, P23035, P29508, P29524, P30740
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SERPINC1 | up-regulates | LRP1 | binding |
| SERPINC1 | “down-regulates activity” | F2 | cleavage |
| SERPINC1 | “down-regulates activity” | F11 | cleavage |
| SERPINC1 | “down-regulates activity” | F10 | cleavage |
| SERPINC1 | “down-regulates activity” | F12 | cleavage |
| SERPINC1 | “down-regulates activity” | F9 | cleavage |
Disease & clinical
Clinical variants and AI predictions
ClinVar
480 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 95 |
| Likely pathogenic | 67 |
| Uncertain significance | 160 |
| Likely benign | 107 |
| Benign | 19 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 100923 | NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) | Pathogenic |
| 1321887 | NC_000001.11:g.173896668_173942868del | Pathogenic |
| 1321892 | NC_000001.11:g.173914640_173922032del | Pathogenic |
| 1321893 | NM_000488.4(SERPINC1):c.84_409-536del | Pathogenic |
| 1321894 | NM_000488.4(SERPINC1):c.408+948_763-386del | Pathogenic |
| 1321895 | NM_000488.4(SERPINC1):c.42-486_1154-846del | Pathogenic |
| 1321900 | NC_000001.11:g.173916704_173935703del | Pathogenic |
| 1321902 | NM_000488.4(SERPINC1):c.763-379_1084del | Pathogenic |
| 1321903 | NM_000488.4(SERPINC1):c.1154-898_1218+410del | Pathogenic |
| 1321904 | NM_000488.4(SERPINC1):c.1154-40_1218+127dup | Pathogenic |
| 1321905 | NM_000488.4(SERPINC1):c.1154-324_1218+475dup | Pathogenic |
| 1321907 | NM_000488.4(SERPINC1):c.41+297_55del | Pathogenic |
| 1321909 | NC_000001.11:g.173905922_173905923ins[NC_000006.11:56893618_56896059] | Pathogenic |
| 1321911 | NC_000001.11:g.173879820_173925989del | Pathogenic |
| 1330290 | NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu) | Pathogenic |
| 1335876 | NC_000001.11:g.173908412_173919816dup | Pathogenic |
| 1434089 | NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter) | Pathogenic |
| 1456446 | NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter) | Pathogenic |
| 18004 | NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) | Pathogenic |
| 18005 | AT-III Roma | Pathogenic |
| 18006 | AT-III Trento | Pathogenic |
| 18007 | NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro) | Pathogenic |
| 18008 | AT-III Fontainebleu | Pathogenic |
| 18010 | NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) | Pathogenic |
| 18011 | NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) | Pathogenic |
| 18012 | NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) | Pathogenic |
| 18013 | AT-III Barcelona | Pathogenic |
| 18014 | NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) | Pathogenic |
| 18016 | NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) | Pathogenic |
| 18019 | NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) | Pathogenic |
SpliceAI
976 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:173907442:GTACT:G | donor_loss | 1.0000 |
| 1:173907444:ACT:A | donor_loss | 1.0000 |
| 1:173907445:CTC:C | donor_loss | 1.0000 |
| 1:173907446:TCAC:T | donor_loss | 1.0000 |
| 1:173907447:CAC:C | donor_loss | 1.0000 |
| 1:173907448:ACCTC:A | donor_loss | 1.0000 |
| 1:173907449:C:T | donor_loss | 1.0000 |
| 1:173907512:TACC:T | acceptor_loss | 1.0000 |
| 1:173907515:C:CG | acceptor_loss | 1.0000 |
| 1:173907516:T:A | acceptor_loss | 1.0000 |
| 1:173909540:T:TA | donor_gain | 1.0000 |
| 1:173909938:AGGCC:A | acceptor_gain | 1.0000 |
| 1:173909939:GGCC:G | acceptor_gain | 1.0000 |
| 1:173909940:GCC:G | acceptor_gain | 1.0000 |
| 1:173909941:CC:C | acceptor_gain | 1.0000 |
| 1:173909941:CCC:C | acceptor_gain | 1.0000 |
| 1:173909942:CC:C | acceptor_gain | 1.0000 |
| 1:173909943:C:CC | acceptor_gain | 1.0000 |
| 1:173909943:C:T | acceptor_gain | 1.0000 |
| 1:173909943:CTG:C | acceptor_loss | 1.0000 |
| 1:173909944:T:G | acceptor_loss | 1.0000 |
| 1:173910806:T:TA | donor_gain | 1.0000 |
| 1:173911795:TCAC:T | donor_loss | 1.0000 |
| 1:173911797:ACCT:A | donor_loss | 1.0000 |
| 1:173914554:T:TA | donor_gain | 1.0000 |
| 1:173914916:CTTC:C | acceptor_gain | 1.0000 |
| 1:173914917:TTC:T | acceptor_gain | 1.0000 |
| 1:173914918:TC:T | acceptor_gain | 1.0000 |
| 1:173914919:CC:C | acceptor_gain | 1.0000 |
| 1:173914920:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3067 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:173914619:A:C | S114R | 0.998 |
| 1:173914619:A:T | S114R | 0.998 |
| 1:173914621:T:G | S114R | 0.998 |
| 1:173909936:A:G | W257R | 0.996 |
| 1:173909936:A:T | W257R | 0.996 |
| 1:173909934:C:A | W257C | 0.995 |
| 1:173909934:C:G | W257C | 0.995 |
| 1:173914585:C:G | A126P | 0.995 |
| 1:173910769:G:C | N249K | 0.994 |
| 1:173910769:G:T | N249K | 0.994 |
| 1:173911893:C:G | R177P | 0.994 |
| 1:173914560:A:G | L134P | 0.994 |
| 1:173914587:C:T | G125D | 0.994 |
| 1:173911950:A:G | L158P | 0.993 |
| 1:173914584:G:T | A126D | 0.993 |
| 1:173907481:A:T | V396D | 0.992 |
| 1:173910782:A:G | L245P | 0.992 |
| 1:173911841:A:C | S194R | 0.992 |
| 1:173911841:A:T | S194R | 0.992 |
| 1:173911843:T:G | S194R | 0.992 |
| 1:173914588:C:G | G125R | 0.992 |
| 1:173909605:A:G | L367P | 0.991 |
| 1:173911886:A:C | F179L | 0.991 |
| 1:173911886:A:T | F179L | 0.991 |
| 1:173911888:A:G | F179L | 0.991 |
| 1:173911890:A:G | L178P | 0.991 |
| 1:173914603:C:G | A120P | 0.991 |
| 1:173914713:A:G | L83P | 0.991 |
| 1:173914602:G:T | A120D | 0.989 |
| 1:173904044:C:G | A414P | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000202171 (1:173910078 T>C,G), RS1000332785 (1:173904290 T>A), RS1000582649 (1:173908014 TAATA>T), RS1000949668 (1:173911362 A>G), RS1001057744 (1:173907678 A>C), RS1001156482 (1:173914357 A>G), RS1001555339 (1:173910275 T>C), RS1001654948 (1:173909315 T>A), RS1001880914 (1:173917165 T>C), RS1001992574 (1:173910573 T>C,G), RS1002022677 (1:173903632 C>A), RS1002105677 (1:173904787 A>G), RS1002424360 (1:173908529 TCTAATTA>T), RS1002517609 (1:173914757 T>G), RS1002618543 (1:173908360 G>A)
Disease associations
OMIM: gene MIM:107300 | disease phenotypes: MIM:613118, MIM:613254, MIM:120430
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hereditary antithrombin deficiency | Definitive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| hereditary antithrombin deficiency | Definitive | SD |
Mondo (4): hereditary antithrombin deficiency (MONDO:0013144), tuberous sclerosis 2 (MONDO:0013199), thrombocytopenia (MONDO:0002049), coloboma of optic nerve (MONDO:0007354)
Orphanet (4): Hereditary thrombophilia due to congenital antithrombin deficiency (Orphanet:82), Tuberous sclerosis complex (Orphanet:805), Morning glory disc anomaly (Orphanet:35737), Coloboma of optic disc (Orphanet:98947)
HPO phenotypes
20 total (21 of 20 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001976 | Reduced antithrombin III activity |
| HP:0002204 | Pulmonary embolism |
| HP:0002625 | Deep venous thrombosis |
| HP:0002638 | Superficial thrombophlebitis |
| HP:0004419 | Recurrent thrombophlebitis |
| HP:0004420 | Arterial thrombosis |
| HP:0004831 | Recurrent thromboembolism |
| HP:0005268 | Miscarriage |
| HP:0005305 | Cerebral venous thrombosis |
| HP:0012636 | Retinal venous occlusion |
| HP:0025324 | Arterial occlusion |
| HP:0030242 | Portal vein thrombosis |
| HP:0030243 | Hepatic vein thrombosis |
| HP:0030248 | Mesenteric venous thrombosis |
| HP:0031437 | Pregnancy exposure |
| HP:0040226 | Decreased level of heparin co-factor II |
| HP:0040246 | Reduced antithrombin antigen |
| HP:0200067 | Recurrent spontaneous abortion |
| HP:0000588 | Optic disc coloboma |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006944_27 | Experiencing mood swings | 4.000000e-08 |
| GCST006979_962 | Heel bone mineral density | 2.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008475 | mood instability measurement |
| EFO:0009270 | heel bone mineral density |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020152 | Antithrombin III Deficiency | C15.378.100.100.075; C15.378.147.150; C15.378.925.075; C16.320.099.075 |
| D013921 | Thrombocytopenia | C15.378.140.855; C15.378.243.937 |
| C535970 | Coloboma of optic nerve (supp.) | |
| C566021 | Tuberous Sclerosis 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL1950 (SINGLE PROTEIN), CHEMBL2111449 (PROTEIN COMPLEX)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 3 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL5314374 | IDRAPARINUX SODIUM | 3 | 3 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs5877 | Toxicity | 3 | carboplatin;gemcitabine | Non-Small Cell Lung Carcinoma;Thrombocytopenia |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs5877 | SERPINC1 | 3 | 2.50 | 1 | carboplatin;gemcitabine |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Blood coagulation components
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| heparin | Activation | 7.85 | pKd |
| fondaparinux | Activation | 7.49 | pKd |
Binding affinities (BindingDB)
6 measured of 6 human assays (6 total across all organisms); most potent 6 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| N-decyl-N-(3,4-dihydroxyphenyl)sulfonyl-3,4-dihydroxybenzenesulfonamide | IC50 | 44400 nM | US-9718760: Plasminogen activator inhibitor-1 inhibitors and methods of use thereof |
| N-(3,4-dihydroxyphenyl)sulfonyl-3,5-difluoro-4-hydroxy-N-octylbenzenesulfonamide | IC50 | 87000 nM | US-9718760: Plasminogen activator inhibitor-1 inhibitors and methods of use thereof |
| N-(3,4-dihydroxyphenyl)sulfonyl-N-dodecyl-3,4-dihydroxybenzenesulfonamide | IC50 | 547000 nM | US-9718760: Plasminogen activator inhibitor-1 inhibitors and methods of use thereof |
| 3,4,5-trihydroxy-N-octylbenzamide | IC50 | 1.67e+06 nM | US-9718760: Plasminogen activator inhibitor-1 inhibitors and methods of use thereof |
| N-(3,5-difluoro-4-hydroxyphenyl)sulfonyl-3,5-difluoro-4-hydroxy-N-octylbenzenesulfonamide | IC50 | 2.33e+06 nM | US-9718760: Plasminogen activator inhibitor-1 inhibitors and methods of use thereof |
| N-benzyl-3,4-dihydroxybenzenesulfonamide | IC50 | 2.33e+06 nM | US-9718760: Plasminogen activator inhibitor-1 inhibitors and methods of use thereof |
ChEMBL bioactivities
6 potent at pChembl≥5 of 6 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.00 | Kd | 1 | nM | IDRAPARINUX SODIUM |
| 8.72 | Kd | 1.9 | nM | CHEMBL2303815 |
| 8.55 | Kd | 2.8 | nM | CHEMBL2303814 |
| 8.15 | Kd | 7 | nM | CHEMBL1909451 |
| 7.24 | Kd | 58 | nM | CHEMBL609990 |
| 6.24 | IC50 | 570 | nM | CHEMBL51173 |
PubChem BioAssay actives
4 with measured affinity, of 59 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| nonasodium;(2S,3S,4S,5R,6R)-6-[(2R,3R,4S,5R,6R)-6-[(2R,3S,4S,5R,6R)-2-carboxylato-4,5-dimethoxy-6-[(2R,3R,4S,5R,6S)-6-methoxy-4,5-disulfonatooxy-2-(sulfonatooxymethyl)oxan-3-yl]oxyoxan-3-yl]oxy-4,5-disulfonatooxy-2-(sulfonatooxymethyl)oxan-3-yl]oxy-4,5-dimethoxy-3-[(2R,3R,4S,5R,6R)-3,4,5-trimethoxy-6-(sulfonatooxymethyl)oxan-2-yl]oxyoxane-2-carboxylate | 527395: Binding affinity to antithrombin 3 | kd | 0.0010 | uM |
| decasodium;(2R,3S,4S,5R,6R)-6-[(2S,3R,4S,5R,6S)-6-[(2S,3S,4S,5R,6R)-2-carboxylato-6-[(2S,3S,4S,5S,6S)-4,6-dimethoxy-5-(sulfonatoamino)-2-(sulfonatooxymethyl)oxan-3-yl]oxy-4-methoxy-5-sulfonatooxyoxan-3-yl]oxy-4,5-disulfonatooxy-2-(sulfonatooxymethyl)oxan-3-yl]oxy-3-[(2R,3R,4R,5S,6S)-4,5-dimethoxy-3-(sulfonatoamino)-6-(sulfonatooxymethyl)oxan-2-yl]oxy-4,5-dimethoxyoxane-2-carboxylate | 38738: Dissociation constant for Antithrombin-III | kd | 0.0070 | uM |
| decasodium;(3S,4R,6R)-3-[(2S,4S,5R)-5-[(2R,5S,6R)-6-carboxylato-5-[(2R,5S,6S)-4,5-dihydroxy-3-(sulfonatoamino)-6-(sulfonatooxymethyl)oxan-2-yl]oxy-3,4-dihydroxyoxan-2-yl]oxy-3,4-disulfonatooxy-6-(sulfonatooxymethyl)oxan-2-yl]oxy-6-[(2S,3S,6S)-4,6-dihydroxy-5-(sulfonatoamino)-2-(sulfonatooxymethyl)oxan-3-yl]oxy-4-hydroxy-5-(sulfonatoamino)oxane-2-carboxylate | 38738: Dissociation constant for Antithrombin-III | kd | 0.0580 | uM |
| N-[(2R)-3-(4-carbamimidoylphenyl)-1-oxo-1-piperidin-1-ylpropan-2-yl]-2-(naphthalen-2-ylsulfonylamino)acetamide | 38735: Antithrombin III (ATIII)-mediated anti-Xa activity was determined | ic50 | 0.5700 | uM |
CTD chemical–gene interactions
73 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Ethinyl Estradiol | affects binding, decreases expression, affects cotreatment, decreases activity | 8 |
| ethinyl estradiol-desogestrel combination | decreases activity, decreases expression, increases expression | 7 |
| Heparin | decreases expression, affects binding, increases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 3 |
| Aflatoxin B1 | decreases expression, affects expression | 3 |
| Levonorgestrel | decreases expression, affects cotreatment, decreases activity | 3 |
| sodium arsenite | increases methylation, decreases expression | 2 |
| Gestodene | decreases activity, decreases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Contraceptives, Oral | decreases activity, affects response to substance | 2 |
| Estrogens | decreases activity, decreases expression | 2 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, affects expression | 2 |
| testosterone enanthate | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects expression | 1 |
| calcium heparin | increases activity | 1 |
| potassium perchlorate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| norgestimate | affects cotreatment, decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| nickel chloride | decreases expression | 1 |
| dienogest | affects cotreatment, decreases activity | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| 2,3-dimethoxy-1,4-naphthoquinone | decreases expression | 1 |
| ethinyl estradiol, levonorgestrel drug combination | decreases expression | 1 |
| estradiol, norethindrone drug combination | decreases expression | 1 |
| estradiol valerate-dienogest | affects cotreatment, decreases activity | 1 |
ChEMBL screening assays
19 unique, capped per target: 19 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1072392 | Binding | Inhibition of antithrombin-3 assessed as residual alpha-thrombin activity | Novel bis-arylsulfonamides and aryl sulfonimides as inactivators of plasminogen activator inhibitor-1 (PAI-1). — Bioorg Med Chem Lett |
Cellosaurus cell lines
3 cell lines: 2 induced pluripotent stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A9YM | ZZUNEUi014-A | Induced pluripotent stem cell | Female |
| CVCL_C9LX | SFPHi001-A | Induced pluripotent stem cell | Female |
| CVCL_IR13 | CHO-13D-35D | Transformed cell line | Female |
Clinical trials (associated diseases)
257 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02278575 | PHASE4 | WITHDRAWN | Atenativ Effect on Uterine Blood Flow and Preeclampsia |
| NCT00039858 | PHASE4 | COMPLETED | Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin |
| NCT00239733 | PHASE4 | TERMINATED | Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection |
| NCT00907478 | PHASE4 | COMPLETED | Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP) |
| NCT01727401 | PHASE4 | TERMINATED | Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia |
| NCT02032134 | PHASE4 | TERMINATED | Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia |
| NCT02267993 | PHASE4 | COMPLETED | Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients |
| NCT03633019 | PHASE4 | UNKNOWN | High-dose Use of rhTPO in CIT Patients |
| NCT03688191 | PHASE4 | UNKNOWN | Study of Sirolimus in CTD-TP in China |
| NCT04906083 | PHASE4 | UNKNOWN | Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia |
| NCT05217719 | PHASE4 | UNKNOWN | Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients |
| NCT05255003 | PHASE4 | RECRUITING | STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis |
| NCT05382013 | PHASE4 | UNKNOWN | Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment |
| NCT05944458 | PHASE4 | COMPLETED | Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients |
| NCT06562738 | PHASE4 | RECRUITING | Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia |
| NCT00110513 | PHASE3 | COMPLETED | Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery |
| NCT04918173 | PHASE3 | RECRUITING | Efficacy of Atenativ in Patients With Congenital Antithrombin Deficiency Undergoing Surgery or Delivery |
| NCT06096116 | PHASE3 | RECRUITING | Phase 3 Study on the Efficacy and Safety of Human Plasma Derived Antithrombin (Atenativ) in Heparin-Resistant Patients Scheduled to Undergo Cardiac Surgery Necessitating Cardiopulmonary Bypass |
| NCT00037791 | PHASE3 | COMPLETED | Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia |
| NCT00039910 | PHASE3 | COMPLETED | Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia |
| NCT00073580 | PHASE3 | COMPLETED | Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE) |
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Related Atlas pages
- Associated diseases: hereditary antithrombin deficiency
- Targeted by drugs: Dalteparin Sodium, Danaparoid Sodium, Enoxaparin Sodium, Fondaparinux, Heparin, Heparin Sodium, Tinzaparin, Tinzaparin Sodium
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): coloboma of optic nerve, hereditary antithrombin deficiency, tuberous sclerosis 2