Gene Gene information from NCBI Gene database.
Entrez ID 462
Gene name Serpin family C member 1
Gene symbol SERPINC1
Synonyms (NCBI Gene)
AT3AT3DATIIIATIII-R2ATIII-T1ATIII-T2THPH7
Chromosome 1
Chromosome location 1q25.1
Summary 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 coa
SNPs SNP information provided by dbSNP.
42
SNP ID Visualize variation Clinical significance Consequence
rs2227624 A>T Conflicting-interpretations-of-pathogenicity, uncertain-significance 5 prime UTR variant, coding sequence variant, missense variant
rs28929469 G>A Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121909547 G>A,T Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs121909551 G>A Pathogenic-likely-pathogenic, likely-benign Missense variant, coding sequence variant
rs121909552 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
89
miRTarBase ID miRNA Experiments Reference
MIRT653922 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT653921 hsa-miR-130b-5p HITS-CLIP 23824327
MIRT653920 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT653919 hsa-miR-30a-5p HITS-CLIP 23824327
MIRT653918 hsa-miR-30b-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
CEBPA Activation 8910619
FOXA1 Repression 8910619
FOXA2 Repression 8910619
HNF4A Activation 8910619
NR2F1 Repression 8910619
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 15853774
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity NAS 12878203
GO:0005515 Function Protein binding IPI 2013320, 12878203, 22582013, 28743742
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107300 775 ENSG00000117601
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01008
Protein name Antithrombin-III (ATIII) (Serpin C1)
Protein function Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibit
PDB 1ANT , 1ATH , 1AZX , 1BR8 , 1DZG , 1DZH , 1E03 , 1E04 , 1E05 , 1JVQ , 1LK6 , 1NQ9 , 1OYH , 1R1L , 1SR5 , 1T1F , 1TB6 , 2ANT , 2B4X , 2B5T , 2BEH , 2GD4 , 2HIJ , 2ZNH , 3EVJ , 3KCG , 4EB1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 85 461 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Found in plasma.
Sequence
Sequence length 464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades   Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
354
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal thrombosis Pathogenic rs1487411568 RCV000852017
Coloboma of optic nerve Pathogenic rs2526582621 RCV006259483
Deep venous thrombosis Pathogenic rs2227624, rs121909567, rs1572092099 RCV000852240
RCV000851769
RCV000852038
Hepatocellular carcinoma Likely pathogenic rs1572090079 RCV005906946
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Conflicting classifications of pathogenicity rs121909548 RCV001270536
See cases Uncertain significance rs571861448, rs2526542046 RCV004584532
RCV004584563
Thrombocytopenia Conflicting classifications of pathogenicity rs121909548 RCV001270536
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
18 Hydroxylase deficiency Associate 36268972
Acquired Immunodeficiency Syndrome Inhibit 37501065
alpha 1 Antitrypsin Deficiency Associate 12595305
Alzheimer Disease Stimulate 8362984
Amyloid angiopathy Associate 8362984
Anemia Sickle Cell Associate 23249216, 35822297
Antithrombin deficiency type 2 Associate 17492649, 18480576, 20435622, 23910795, 24162787, 24583439, 27708219, 28317092, 28743742, 30608445, 37201530, 8274732
Antithrombin deficiency type 2 Inhibit 24583439
Antithrombin deficiency type 2 Stimulate 39265995
Antithrombin III Deficiency Associate 10997988, 12595305, 1469094, 1520874, 17244682, 17492649, 18480576, 20435622, 2066426, 23910795, 24824609, 25811371, 26748602, 27003919, 27279637
View all (27 more)