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Aliases for SERPINC1 Gene

Aliases for SERPINC1 Gene

  • Serpin Family C Member 1 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade C (Antithrombin), Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member 1 2 3
  • ATIII 3 4
  • AT3 3 4
  • Coding Sequence Signal Peptide Antithrombin Part 1 2
  • Serpin Peptidase Inhibitor Clade C Member 1 3
  • Signal Peptide Antithrombin Part 1 2
  • Antithrombin (Aa 375-432) 2
  • Antithrombin III 2
  • Antithrombin-III 3
  • Serpin C1 4
  • THPH7 3
  • AT3D 3

External Ids for SERPINC1 Gene

Previous HGNC Symbols for SERPINC1 Gene

  • AT3

Previous GeneCards Identifiers for SERPINC1 Gene

  • GC01M171412
  • GC01M169301
  • GC01M170453
  • GC01M171112
  • GC01M170604
  • GC01M172139
  • GC01M173872
  • GC01M145098
  • GC01M173905
  • GC01M173913
  • GC01M173926
  • GC01M173950
  • GC01M173964
  • GC01M173999

Summaries for SERPINC1 Gene

Entrez Gene Summary for SERPINC1 Gene

  • The protein encoded by this gene 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. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]

GeneCards Summary for SERPINC1 Gene

SERPINC1 (Serpin Family C Member 1) is a Protein Coding gene. Diseases associated with SERPINC1 include Thrombophilia Due To Antithrombin Iii Deficiency and Hereditary Antithrombin Deficiency. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPINI2.

UniProtKB/Swiss-Prot for SERPINC1 Gene

  • 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.

Gene Wiki entry for SERPINC1 Gene

Additional gene information for SERPINC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINC1 Gene

Genomics for SERPINC1 Gene

Regulatory Elements for SERPINC1 Gene

Enhancers for SERPINC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H174873 1.4 Ensembl ENCODE dbSUPER 12.4 -958.7 -958733 4.6 HDGF PKNOX1 ATF1 YY1 ZNF766 FOS ATF7 RUNX3 JUNB ZNF592 RABGAP1L SERPINC1 RNU6-307P ENSG00000237249 GC01M174850
GH01H174814 1.1 Ensembl ENCODE 13 -898.2 -898199 1.2 TBL1XR1 BMI1 BATF ZSCAN5C FOS ATF7 ETV6 RUNX3 CREM IKZF2 RABGAP1L SERPINC1 GC01M174826 BANF1P4
GH01H173861 1.2 ENCODE 11.4 +50.6 50619 10.3 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZFP41 MEF2D SSRP1 KLHL20 RC3H1 DARS2 CENPL ZBTB37 GAS5-AS1 TEX50 ANKRD45 GAS5 RNA5SP67
GH01H174798 1 ENCODE 13.2 -882.6 -882612 2.7 HDGF PKNOX1 ARNT ZNF133 SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF143 RABGAP1L SERPINC1 RC3H1 GC01M174826 BANF1P4
GH01H174018 0.5 Ensembl 25.2 -100.8 -100823 0.4 PKNOX1 ZNF362 FOXA1 SERPINC1 DARS2 RNA5SP67 CENPL RC3H1 RC3H1-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SERPINC1 Gene

Genomic Locations for SERPINC1 Gene
13,579 bases
Minus strand

Genomic View for SERPINC1 Gene

Genes around SERPINC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINC1 Gene

Proteins for SERPINC1 Gene

  • Protein details for SERPINC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R6P0
    • P78439
    • P78447
    • Q13815
    • Q5TC78
    • Q7KZ43
    • Q7KZ97
    • Q9UC78

    Protein attributes for SERPINC1 Gene

    464 amino acids
    Molecular mass:
    52602 Da
    Quaternary structure:
    • Forms protease inhibiting heterodimer with TMPRSS7.

    Three dimensional structures from OCA and Proteopedia for SERPINC1 Gene

neXtProt entry for SERPINC1 Gene

Post-translational modifications for SERPINC1 Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at isoforms=128, isoforms=167, Asn187, and Asn224
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINC1 Gene

Domains & Families for SERPINC1 Gene

Gene Families for SERPINC1 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SERPINC1 Gene

Suggested Antigen Peptide Sequences for SERPINC1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the serpin family.
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINC1: view

Function for SERPINC1 Gene

Molecular function for SERPINC1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SERPINC1 Gene

Gene Ontology (GO) - Molecular Function for SERPINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 15853774
GO:0004867 serine-type endopeptidase inhibitor activity IEA,NAS 12878203
GO:0005515 protein binding IPI 12878203
GO:0008201 heparin binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINC1: view
genes like me logo Genes that share phenotypes with SERPINC1: view

Human Phenotype Ontology for SERPINC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINC1 Gene

MGI Knock Outs for SERPINC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPINC1 Gene

Localization for SERPINC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINC1 Gene

Secreted, extracellular space.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERPINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 1695900
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SERPINC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINC1 Gene

Pathways & Interactions for SERPINC1 Gene

genes like me logo Genes that share pathways with SERPINC1: view

SIGNOR curated interactions for SERPINC1 Gene


Gene Ontology (GO) - Biological Process for SERPINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002438 acute inflammatory response to antigenic stimulus IEA --
GO:0007584 response to nutrient IEA --
GO:0007595 lactation IEA --
GO:0007596 blood coagulation TAS --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with SERPINC1: view

Drugs & Compounds for SERPINC1 Gene

(81) Drugs for SERPINC1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist, inhibitor, cofactor, Target, potentiator 874,274
Ardeparin Approved, Withdrawn Pharma binder, Target, potentiator 0
Tinzaparin Approved Pharma cofactor, Target, potentiator 43
Fondaparinux sodium Approved, Investigational Pharma Target, potentiator 0
Dalteparin Approved Pharma Target, potentiator 330

(51) Additional Compounds for SERPINC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINC1: view

Transcripts for SERPINC1 Gene

Unigene Clusters for SERPINC1 Gene

Serpin peptidase inhibitor, clade C (antithrombin), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINC1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4: - -
SP5: -

Relevant External Links for SERPINC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERPINC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPINC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINC1 Gene

This gene is overexpressed in Liver (x52.5).

Protein differential expression in normal tissues from HIPED for SERPINC1 Gene

This gene is overexpressed in Serum (16.3), Plasma (13.1), and Synovial fluid (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINC1 Gene

Protein tissue co-expression partners for SERPINC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINC1 Gene:


SOURCE GeneReport for Unigene cluster for SERPINC1 Gene:


mRNA Expression by UniProt/SwissProt for SERPINC1 Gene:

Tissue specificity: Found in plasma.

Evidence on tissue expression from TISSUES for SERPINC1 Gene

  • Liver(4.9)
  • Blood(4.8)
  • Nervous system(4.5)
  • Bone marrow(4.3)
  • Heart(3.4)
  • Kidney(3.1)
  • Lung(3)
  • Intestine(2.7)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • nervous
  • respiratory
Head and neck:
  • brain
  • ear
  • head
  • heart
  • lung
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with SERPINC1: view

Orthologs for SERPINC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERPINC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SERPINC1 33 34
  • 99.43 (n)
(Bos Taurus)
Mammalia SERPINC1 33 34
  • 87.69 (n)
(Canis familiaris)
Mammalia SERPINC1 33 34
  • 87.3 (n)
(Mus musculus)
Mammalia Serpinc1 33 16 34
  • 85.6 (n)
(Rattus norvegicus)
Mammalia Serpinc1 33
  • 84.74 (n)
(Monodelphis domestica)
Mammalia SERPINC1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia SERPINC1 34
  • 71 (a)
(Gallus gallus)
Aves SERPINC1 33 34
  • 70.25 (n)
(Anolis carolinensis)
Reptilia SERPINC1 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinc1 33
  • 65.33 (n)
Str.15365 33
African clawed frog
(Xenopus laevis)
Amphibia serpinc1-prov 33
(Danio rerio)
Actinopterygii serpinc1 33 34
  • 62.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9346 33
fruit fly
(Drosophila melanogaster)
Insecta Spn1 34
  • 31 (a)
Spn3 34
  • 31 (a)
CG9460 35
  • 30 (a)
Spn2 34
  • 30 (a)
CG6687 35
  • 28 (a)
Spn28Da 34
  • 28 (a)
Spn42Db 34
  • 28 (a)
Spn42De 34
  • 27 (a)
Spn43Aa 34
  • 27 (a)
Spn6 34
  • 27 (a)
Spn4 34
  • 26 (a)
Spn42Dc 34
  • 26 (a)
Spn7 34
  • 26 (a)
Spn28Db 34
  • 25 (a)
Spn47C 34
  • 24 (a)
Spn43Ab 34
  • 23 (a)
nec 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea srp-7 35
  • 30 (a)
(Oryza sativa)
Liliopsida Os01g0765400 33
  • 46.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6842 34
  • 33 (a)
Species where no ortholog for SERPINC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINC1 Gene

Gene Tree for SERPINC1 (if available)
Gene Tree for SERPINC1 (if available)

Paralogs for SERPINC1 Gene

Variants for SERPINC1 Gene

Sequence variations from dbSNP and Humsavar for SERPINC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121909546 Pathogenic, Antithrombin III deficiency (AT3D) [MIM:613118] 173,903,978(-) TCAAG(A/G)CCAAC reference, missense
rs121909547 Pathogenic, Antithrombin III deficiency (AT3D) [MIM:613118], Antithrombin III deficiency (AT3D) [MIM:613118] 173,914,726(-) ACCGG(A/C/T)GTGTC reference, missense
rs121909548 Pathogenic, Antithrombin III deficiency (AT3D) [MIM:613118] 173,904,038(-) CAGCT(C/G/T)CAAGT reference, missense
rs121909549 Pathogenic, Antithrombin III deficiency (AT3D) [MIM:613118], Antithrombin III deficiency (AT3D) [MIM:613118] 173,904,010(-) TGGCC(A/C/G)TTCGC reference, missense
rs121909550 Pathogenic, Antithrombin III deficiency (AT3D) [MIM:613118] 173,904,007(-) CCGTT(C/T)GCTAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SERPINC1 Gene

Variant ID Type Subtype PubMed ID
esv2758978 CNV loss 17122850
nsv831926 CNV gain+loss 17160897

Variation tolerance for SERPINC1 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINC1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINC1 Gene

Disorders for SERPINC1 Gene

MalaCards: The human disease database

(119) MalaCards diseases for SERPINC1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombophilia due to antithrombin iii deficiency
  • antithrombin iii deficiency
hereditary antithrombin deficiency
  • thrombophilia due to antithrombin iii deficiency
disseminated intravascular coagulation
  • defibrination syndrome
hepatic veno-occlusive disease
  • veno-occlusive disease
sagittal sinus thrombosis
  • thrombosis of superior longitudinal sinus
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:10997988, ECO:0000269 PubMed:11713457, ECO:0000269 PubMed:11794707, ECO:0000269 PubMed:12353073, ECO:0000269 PubMed:12595305, ECO:0000269 PubMed:12894857, ECO:0000269 PubMed:15164384, ECO:0000269 PubMed:1547341, ECO:0000269 PubMed:1555650, ECO:0000269 PubMed:16908819, ECO:0000269 PubMed:1906811, ECO:0000269 PubMed:2013320, ECO:0000269 PubMed:2229057, ECO:0000269 PubMed:2365065, ECO:0000269 PubMed:23910795, ECO:0000269 PubMed:2781509, ECO:0000269 PubMed:3080419, ECO:0000269 PubMed:3162733, ECO:0000269 PubMed:3179438, ECO:0000269 PubMed:3191114, ECO:0000269 PubMed:3805013, ECO:0000269 PubMed:6582486, ECO:0000269 PubMed:7734359, ECO:0000269 PubMed:7832187, ECO:0000269 PubMed:7878627, ECO:0000269 PubMed:7959685, ECO:0000269 PubMed:7981186, ECO:0000269 PubMed:7989582, ECO:0000269 PubMed:7994035, ECO:0000269 PubMed:8274732, ECO:0000269 PubMed:8443391, ECO:0000269 PubMed:8486379, ECO:0000269 PubMed:9031473, ECO:0000269 PubMed:9157604, ECO:0000269 PubMed:9759613, ECO:0000269 PubMed:9845533, ECO:0000269 Ref.3, ECO:0000269 Ref.55}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPINC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SERPINC1: view

No data available for Genatlas for SERPINC1 Gene

Publications for SERPINC1 Gene

  1. Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors. (PMID: 15164384) David D … Crespo F (American journal of hematology 2004) 3 4 22 60
  2. Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. (PMID: 12595305) Picard V … Aiach M (Blood 2003) 3 4 45 60
  3. Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. (PMID: 12353073) Mushunje A … Carrell RW (Thrombosis and haemostasis 2002) 3 4 22 60
  4. Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. (PMID: 7832187) Okajima K … Takatsuki K (American journal of hematology 1995) 3 4 22 60
  5. The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions. (PMID: 7656006) Schreuder HA … Hol WG (Nature structural biology 1994) 3 4 22 60

Products for SERPINC1 Gene

Sources for SERPINC1 Gene

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