Human Gene SERPINC1 (ENST00000367698.4_7) from GENCODE V47lift37
  Description: serpin family C member 1, transcript variant 7 (from RefSeq NM_001386306.1)
Gencode Transcript: ENST00000367698.4_7
Gencode Gene: ENSG00000117601.15_9
Transcript (Including UTRs)
   Position: hg19 chr1:173,872,938-173,886,465 Size: 13,528 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:173,873,027-173,886,397 Size: 13,371 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:173,872,938-173,886,465)mRNA (may differ from genome)Protein (464 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ANT3_HUMAN
DESCRIPTION: RecName: Full=Antithrombin-III; Short=ATIII; AltName: Full=Serpin C1; Flags: Precursor;
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: Forms protease inhibiting heterodimer with TMPRSS7.
SUBCELLULAR LOCATION: Secreted, extracellular space.
TISSUE SPECIFICITY: Found in plasma.
PTM: Phosphorylation sites are present in the extracellular medium.
MASS SPECTROMETRY: Mass=57863; Method=Electrospray; Range=33-464; Source=PubMed:7734359;
MASS SPECTROMETRY: Mass=57911; Method=Electrospray; Range=33-464; Note=Variant Thr-414; Source=PubMed:7734359;
DISEASE: Defects in SERPINC1 are the cause of antithrombin III deficiency (AT3D) [MIM:613118]. AT3D is an important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. AT3D 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.
SIMILARITY: Belongs to the serpin family.
WEB RESOURCE: Name=Wikipedia; Note=Antithrombin entry; URL="http://en.wikipedia.org/wiki/Antithrombin";
WEB RESOURCE: Name=Antithrombin mutation database; URL="http://www1.imperial.ac.uk/medicine/about/divisions/is/haemo/coag/antithrombin/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINC1";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/serpinc1/";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SERPINC1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SERPINC1
Diseases sorted by gene-association score: thrombophilia due to antithrombin iii deficiency* (1681), hereditary antithrombin deficiency* (419), disseminated intravascular coagulation (40), hepatic veno-occlusive disease (37), sagittal sinus thrombosis (37), protein s deficiency (27), thrombophlebitis (25), intracranial thrombosis (25), pulmonary embolism (25), purpura fulminans (24), portal vein thrombosis (24), ischemic colitis (23), protein c deficiency (22), legg-calve-perthes disease (21), blood protein disease (19), fournier gangrene (18), argentine hemorrhagic fever (18), thrombophilia (18), retinal vein occlusion (18), budd-chiari syndrome (18), congenital disorder of glycosylation, type ia (17), factor xii deficiency (17), sneddon syndrome (17), coronary thrombosis (17), thrombosis (16), leech infestation (16), giant hemangioma (15), hyperhomocysteinemia (14), dic in newborn (14), hellp syndrome (14), blood coagulation disease (14), antiphospholipid syndrome (14), nonarteritic anterior ischemic optic neuropathy (14), purpura (13), burns (13), branch retinal artery occlusion (13), thrombophilia due to activated protein c resistance (12), thrombophilia due to thrombin defect (12), coronary restenosis (12), placental abruption (12), intracranial sinus thrombosis (11), intracranial embolism (11), liver cirrhosis (11), eclampsia (11), retinal artery occlusion (11), central retinal vein occlusion (11), alpha-2-plasmin inhibitor deficiency (10), blue toe syndrome (10), syphilitic meningitis (10), intestinal impaction (10), plasmodium ovale malaria (10), thrombocytosis (10), preeclampsia/eclampsia 1 (10), hypoprothrombinemia (10), myocardial stunning (9), heparin-induced thrombocytopenia (9), intermittent claudication (9), angina pectoris (9), hemophilia a (9), sudden sensorineural hearing loss (9), toxic shock syndrome (9), encephalopathy, familial, with neuroserpin inclusion bodies (9), homocystinuria (9), acute myocardial infarction (9), alpha 1-antitrypsin deficiency (8), post-thrombotic syndrome (8), placenta disease (8), hemorrhagic disease (8), dysfibrinogenemia (8), hemophilia b (8), spinal cord infarction (8), hypersplenism (8), stroke, ischemic (8), vein disease (8), thrombotic thrombocytopenic purpura (8), inherited blood coagulation disease (8), hemorrhagic fever (7), severe pre-eclampsia (7), marantic endocarditis (7), sticky platelet syndrome (7), peripheral vertigo (7), cold urticaria (7), mitral valve stenosis (7), blood platelet disease (7), intracranial hypertension (7), glass syndrome (7), hepatic vascular disease (7), renal artery obstruction (7), hepatitis a (7), patent foramen ovale (6), immune system disease (6), retinal vascular occlusion (6), intermediate coronary syndrome (6), peripheral vascular disease (6), endocarditis (6), osteonecrosis (6), cavernous sinus thrombosis (5), posterior myocardial infarction (5), korean hemorrhagic fever (5), subendocardial myocardial infarction (5), pulmonary edema (5), boomerang dysplasia (5), esophageal varix (5), anterior spinal artery syndrome (5), meningococcemia (5), japanese spotted fever (4), vascular hemostatic disease (4), ischemic optic neuropathy (4), vascular disease (4), myocardial infarction (4), factor x deficiency (4), pulmonary immaturity (4), hepatic infarction (4), acquired thrombocytopenia (4), epileptic encephalopathy, childhood-onset (3), pre-eclampsia (3), pulmonary hypertension (2), heart disease (2), behcet syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 648.85 RPKM in Liver
Total median expression: 655.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.4068-0.212 Picture PostScript Text
3' UTR -9.1089-0.102 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015555 - AT-III
IPR023795 - Protease_inhib_I4_serpin_CS
IPR023796 - Serpin_dom
IPR000215 - Serpin_fam

Pfam Domains:
PF00079 - Serpin (serine protease inhibitor)

SCOP Domains:
56574 - Serpins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ANT - X-ray MuPIT 1ATH - X-ray MuPIT 1AZX - X-ray 1BR8 - X-ray 1DZG - X-ray MuPIT 1DZH - X-ray MuPIT 1E03 - X-ray 1E04 - X-ray 1E05 - X-ray 1JVQ - X-ray 1LK6 - X-ray 1NQ9 - X-ray 1OYH - X-ray 1R1L - X-ray 1SR5 - X-ray 1T1F - X-ray MuPIT 1TB6 - X-ray MuPIT 2ANT - X-ray 2B4X - X-ray MuPIT 2B5T - X-ray MuPIT 2BEH - X-ray MuPIT 2GD4 - X-ray MuPIT 2HIJ - X-ray MuPIT 2ZNH - X-ray 3EVJ - X-ray 3KCG - X-ray MuPIT 4EB1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P01008
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0030414 peptidase inhibitor activity
GO:0042802 identical protein binding

Biological Process:
GO:0002438 acute inflammatory response to antigenic stimulus
GO:0007584 response to nutrient
GO:0007595 lactation
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0030193 regulation of blood coagulation
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:2000266 regulation of blood coagulation, intrinsic pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005886 plasma membrane
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  E00116 - DNA coding of human anti-thrombin III.
AF130100 - Homo sapiens clone FLB1413 PRO0309 mRNA, complete cds.
BC022309 - Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1, mRNA (cDNA clone MGC:22579 IMAGE:4734914), complete cds.
D29832 - Homo sapiens AT-III mRNA for antithrombin III variant, complete cds.
KP780080 - Homo sapiens serpin peptidase inhibitor clade C member 1 (SERPINC1) mRNA, complete cds.
KX151146 - Homo sapiens antithrombin III isoform (ATIII-R2) mRNA, complete cds, alternatively spliced.
AK312654 - Homo sapiens cDNA, FLJ93044, highly similar to Homo sapiens serine (or cysteine) proteinase inhibitor, clade C(antithrombin), member 1 (SERPINC1), mRNA.
KJ901292 - Synthetic construct Homo sapiens clone ccsbBroadEn_10686 SERPINC1 gene, encodes complete protein.
KR711249 - Synthetic construct Homo sapiens clone CCSBHm_00021417 SERPINC1 (SERPINC1) mRNA, encodes complete protein.
KR711250 - Synthetic construct Homo sapiens clone CCSBHm_00021425 SERPINC1 (SERPINC1) mRNA, encodes complete protein.
KR711251 - Synthetic construct Homo sapiens clone CCSBHm_00021453 SERPINC1 (SERPINC1) mRNA, encodes complete protein.
KR711252 - Synthetic construct Homo sapiens clone CCSBHm_00021487 SERPINC1 (SERPINC1) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_extrinsicPathway - Extrinsic Prothrombin Activation Pathway
h_amiPathway - Acute Myocardial Infarction
h_intrinsicPathway - Intrinsic Prothrombin Activation Pathway

Reactome (by CSHL, EBI, and GO)

Protein P01008 (Reactome details) participates in the following event(s):

R-HSA-140806 antithrombin III + heparin -> antithrombin III:heparin
R-HSA-140791 activated thrombin (factor IIa) + antithrombin III:heparin -> thrombin:antithrombin III:heparin
R-HSA-140870 thrombin:antithrombin III:heparin -> thrombin:cleaved antithrombin III:heparin
R-HSA-140872 thrombin:cleaved antithrombin III:heparin -> thrombin:cleaved antithrombin III + heparin
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-140875 Common Pathway of Fibrin Clot Formation
R-HSA-140877 Formation of Fibrin Clot (Clotting Cascade)
R-HSA-109582 Hemostasis
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-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: ANT3_HUMAN, AT3, B2R6P0, ENST00000367698.1, ENST00000367698.2, ENST00000367698.3, NM_001386306, P01008, P78439, P78447, PRO0309, Q13815, Q5TC78, Q7KZ43, Q7KZ97, Q9UC78, uc318gdc.1, uc318gdc.2
UCSC ID: ENST00000367698.4_7
RefSeq Accession: NM_000488.4
Protein: P01008 (aka ANT3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.