SERPINC1 (serpin family C member 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
462
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family C member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINC1
Synonyms (NCBI Gene) Gene synonyms aliases
AT3, AT3D, ATIII, ATIII-R2, ATIII-T1, ATIII-T2, THPH7
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107300 775 ENSG00000117601
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Antithrombin Deficiency hereditary antithrombin deficiency rs1572092103, rs121909562, rs121909572, rs758087836, rs121909547, rs1572086894, rs121909563, rs121909573, rs1487411568, rs121909554, rs1572088865, rs121909564, rs2102773181, rs1460568494, rs121909555
View all (41 more)		 N/A
Tuberous Sclerosis Tuberous sclerosis 2 rs483352856, rs483352854 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (132)
Associations from Text Mining Disease 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)