GediPNet logo

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 nameGene Name - the full gene name approved by the HGNC.
Serpin family C member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SERPINC1
SynonymsGene synonyms aliases
AT3, AT3D, ATIII, ATIII-R2, ATIII-T1, ATIII-T2, THPH7
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 15853774
GO:0002438 Process Acute inflammatory response to antigenic stimulus IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA 21873635
GO:0004867 Function Serine-type endopeptidase inhibitor activity NAS 12878203
GO:0005515 Function Protein binding IPI 12878203, 22582013
Other IDsOther 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
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
Sequence
Sequence length 464
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Antithrombin deficiency Antithrombin III Deficiency, Hereditary Antithrombin Deficiency rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560, rs121909561, rs121909562, rs121909563, rs121909564, rs121909567, rs2102789885, rs2102784614, rs2102778876, rs121909569, rs387906575, rs121909570, rs121909571, rs121909572, rs121909573, rs2102773181, rs2102772927, rs483352856, rs483352854, rs786204063, rs863224495, rs542881762, rs758087836, rs1487411568, rs1460568494, rs1572088775, rs1572088823, rs1572088853, rs1572090173, rs1572091783, rs1572091831, rs1572092076, rs1572092103, rs1572086894, rs1572088865, rs765445413, rs1572090305, rs1572090368, rs1572088348, rs1572090079, rs1449772752, rs1657909645 7959685, 2013320, 1906811, 3179438, 16620552, 24956267, 26748602, 9845533, 6582486, 11794707, 10997988, 7832187, 16908819, 7994035, 12595305, 15164384, 28317092, 7981186, 3080419, 9031473, 8274732, 2365065, 2794060, 2229057, 27322195, 28300866, 24082793, 12894857, 31064749, 23910795, 3805013, 6435583, 9157604, 12353073, 7878627, 1547341, 1469094, 24684277, 1873224, 2615648, 24162787, 11713457, 8443391, 1555650, 3191114, 2781509, 21325262, 7734359, 7989582, 3162733, 8486379, 9759613, 6435583
Hereditary thrombophilia Hereditary thrombophilia due to congenital antithrombin deficiency rs121918146, rs121918122, rs761776963
Liver failure Liver Failure, Acute rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 4089794
Nephrotic syndrome Nephrotic Syndrome rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 11304663
Unknown
Disease name Disease term dbSNP ID References
Blood coagulation disorders Blood Coagulation Disorders 62897
Cerebral thrombosis Cerebral Thrombosis, Brain Thrombosis 6636041
Cerebral thrombus Brain Thrombus, Cerebral Thrombus 6636041
Coronary syndrome Acute Coronary Syndrome rs4986893 7923645

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412