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Aliases for SERPINC1 Gene

Aliases for SERPINC1 Gene

  • Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member 1 2 3
  • AT3 3 4 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade C (Antithrombin), Member 1 2 3
  • THPH7 3 6
  • ATIII 3 4
  • AT3D 3 6
  • Coding Sequence Signal Peptide Antithrombin Part 1 2
  • Signal Peptide Antithrombin Part 1 2
  • Antithrombin (Aa 375-432) 2
  • Antithrombin III 2
  • Antithrombin-III 3
  • Serpin C1 4

External Ids for SERPINC1 Gene

Previous Symbols for SERPINC1 Gene

  • AT3

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 Peptidase Inhibitor, Clade C (Antithrombin), Member 1) is a Protein Coding gene. Diseases associated with SERPINC1 include thrombophilia due to antithrombin iii deficiency and disseminated intravascular coagulation. Among its related pathways are Hemostasis and Glypican 1 network. GO annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPINB12.

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

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

Genomics for SERPINC1 Gene

Genomic Location for SERPINC1 Gene

173,903,800 bp from pter
173,917,378 bp from pter
13,579 bases
Minus strand

Genomic View for SERPINC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPINC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINC1 Gene

Regulatory Elements 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

Proteomics data for SERPINC1 Gene at MOPED

Post-translational modifications for SERPINC1 Gene

  • Phosphorylation sites are present in the extracellular medium
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn128, Asn167, Asn187, and Asn224

Other Protein References for SERPINC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINC1 Gene

Domains for SERPINC1 Gene

Gene Families for SERPINC1 Gene

  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINC1 Gene


Suggested Antigen Peptide Sequences for SERPINC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the serpin family.:
    • P01008
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.

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 NAS 12878203
GO:0005515 protein binding IPI 12878203
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with SERPINC1: view
genes like me logo Genes that share phenotypes with SERPINC1: view

Animal Models for SERPINC1 Gene

MGI Knock Outs for SERPINC1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

Jensen Localization Image for SERPINC1 Gene COMPARTMENTS Subcellular localization image for SERPINC1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
cytosol 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 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 IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 23376485
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with SERPINC1: view

Pathways for SERPINC1 Gene

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

Pathways by source for SERPINC1 Gene

1 KEGG pathway for SERPINC1 Gene

Gene Ontology (GO) - Biological Process for SERPINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007584 response to nutrient IEA --
GO:0007596 blood coagulation TAS --
GO:0010951 negative regulation of endopeptidase activity IBA --
GO:0030162 regulation of proteolysis --
GO:0050728 negative regulation of inflammatory response IEA --
genes like me logo Genes that share ontologies with SERPINC1: view

Compounds for SERPINC1 Gene

(1) HMDB Compounds for SERPINC1 Gene

Compound Synonyms Cas Number PubMed IDs
  • Arteven

(10) Drugbank Compounds for SERPINC1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3458-28-4 target
target potentiator
  • Daltepariininatrium
9041-08-1 target potentiator
  • LMWH
9005-49-6 target potentiator
Fondaparinux sodium
114870-03-0 target potentiator

(118) Novoseek inferred chemical compound relationships for SERPINC1 Gene

Compound -log(P) Hits PubMed IDs
heparin 94.1 474
fibrinogen 93.5 238
heparin pentasaccharide 90.5 37
hirudin 86.9 111
fondaparinux 83.2 64

(1) PharmGKB related drug/compound annotations for SERPINC1 Gene

Drug/compound Annotation
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:

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 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 (52.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINC1 Gene

SOURCE GeneReport for Unigene cluster for SERPINC1 Gene Hs.75599

mRNA Expression by UniProt/SwissProt for SERPINC1 Gene

Tissue specificity: Found in plasma
genes like me logo Genes that share expressions 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 35
  • 99.43 (n)
  • 99.57 (a)
  • 100 (a)
(Bos Taurus)
Mammalia SERPINC1 35
  • 87.69 (n)
  • 87.26 (a)
  • 87 (a)
(Canis familiaris)
Mammalia SERPINC1 35
  • 87.3 (n)
  • 88.31 (a)
  • 88 (a)
(Mus musculus)
Mammalia Serpinc1 35
  • 85.6 (n)
  • 87.69 (a)
Serpinc1 16
Serpinc1 36
  • 87 (a)
(Monodelphis domestica)
Mammalia SERPINC1 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia SERPINC1 36
  • 71 (a)
(Rattus norvegicus)
Mammalia Serpinc1 35
  • 84.74 (n)
  • 85.96 (a)
(Gallus gallus)
Aves SERPINC1 35
  • 70.25 (n)
  • 69.57 (a)
  • 68 (a)
(Anolis carolinensis)
Reptilia SERPINC1 36
  • 61 (a)
African clawed frog
(Xenopus laevis)
Amphibia serpinc1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinc1 35
  • 65.33 (n)
  • 68.15 (a)
Str.15365 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9346 35
(Danio rerio)
Actinopterygii serpinc1 35
  • 62.76 (n)
  • 60.23 (a)
serpinc1 36
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta nec 36
  • 21 (a)
Spn1 36
  • 31 (a)
Spn2 36
  • 30 (a)
Spn28Da 36
  • 28 (a)
Spn28Db 36
  • 25 (a)
Spn3 36
  • 31 (a)
Spn4 36
  • 26 (a)
Spn42Db 36
  • 28 (a)
Spn42Dc 36
  • 26 (a)
Spn42De 36
  • 27 (a)
Spn43Aa 36
  • 27 (a)
Spn43Ab 36
  • 23 (a)
Spn47C 36
  • 24 (a)
Spn6 36
  • 27 (a)
Spn7 36
  • 26 (a)
CG9460 37
  • 30 (a)
CG6687 37
  • 28 (a)
(Caenorhabditis elegans)
Secernentea srp-7 37
  • 30 (a)
(Oryza sativa)
Liliopsida Os01g0765400 35
  • 46.26 (n)
  • 32.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6842 36
  • 33 (a)
Species with no ortholog for SERPINC1:
  • 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

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

Variants for SERPINC1 Gene

Sequence variations from dbSNP and Humsavar for SERPINC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs677 -- 173,907,423(-) TCTTA(C/G)GGTAC intron-variant
rs5877 -- 173,909,724(-) AAGGT(A/G)GAGAA reference, synonymous-codon
rs5878 -- 173,909,694(-) CTGCA(A/G)GAGTG reference, synonymous-codon
rs5879 -- 173,903,934(-) CTGAA(C/T)ACTAT reference, synonymous-codon
rs941988 -- 173,912,755(-) AGACT(A/G)AATCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831926 CNV Gain+Loss 17160897
dgv149e1 CNV Complex 17122850

Relevant External Links for SERPINC1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for SERPINC1 Gene

(1) OMIM Diseases for SERPINC1 Gene (107300)


  • 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: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.54}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(98) Novoseek inferred disease relationships for SERPINC1 Gene

Disease -log(P) Hits PubMed IDs
antithrombin iii deficiency 96.3 135
thrombophilia 93.9 109
protein s deficiency 92.1 112
apc resistance 91.9 107
thrombosis 89.2 151

Relevant External Links for SERPINC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SERPINC1: view

Publications for SERPINC1 Gene

  1. Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. (PMID: 8443391) Okajima K. … Takatsuki K. (Blood 1993) 3 4 23 48
  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 23 48
  3. Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. (PMID: 12353073) Mushunje A. … Carrell R.W. (Thromb. Haemost. 2002) 3 4 23
  4. Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. (PMID: 7959685) Millar D.S. … Cooper D.N. (Hum. Genet. 1994) 3 4 23
  5. Antithrombin-III Stockholm: a codon 392 (Gly-->Asp) mutation with normal heparin binding and impaired serine protease reactivity. (PMID: 1547341) Blajchman M.A. … Schulman S. (Blood 1992) 3 4 23

Products for SERPINC1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate SERPINC1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for SERPINC1
    • Block miRNA regulation of SERPINC1 using miScript Target Protectors

    Sources for SERPINC1 Gene

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