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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

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 Collagen biosynthesis and modifying enzymes 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 SERPINB1.

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

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
GH01F174873 1.2 Ensembl ENCODE 12.4 -958.7 -958733 4.6 TBP HDGF HDAC1 PKNOX1 ATF1 CBX3 ARNT NFRKB RAD21 YY1 RABGAP1L SERPINC1 RNU6-307P ENSG00000237249 GC01M174850
GH01F174814 1.1 Ensembl ENCODE 13 -898.3 -898311 1.4 MXI1 TBL1XR1 JUN BMI1 ZBTB40 RELA CBX5 EED ETV6 ZNF600 RABGAP1L SERPINC1 GC01M174826 BANF1P4
GH01F173940 0.5 FANTOM5 28.3 -23.3 -23324 0.2 ATF2 SERPINC1 ZBTB37 GAS5 SNORD81 KLHL20 RC3H1 GC01M174002 GC01M174003
GH01F173861 1.2 ENCODE 11.4 +50.6 50619 10.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 TBX21 DARS2 GAS5-AS1 KLHL20 ANKRD45 GAS5 LOC730159 RC3H1 CENPL RNA5SP67 SERPINC1
GH01F174798 1 ENCODE 13.2 -882.6 -882612 2.7 HDGF PKNOX1 ZNF133 SIN3A FEZF1 GLI4 ZNF2 YY1 CBX5 ZNF207 RABGAP1L SERPINC1 RC3H1 GAS5-AS1 GC01M174826 BANF1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINC1 Gene

Chromosome:
1
Start:
173,903,800 bp from pter
End:
173,917,378 bp from pter
Size:
13,579 bases
Orientation:
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:
    P01008-ANT3_HUMAN
    Recommended name:
    Antithrombin-III
    Protein Accession:
    P01008
    Secondary Accessions:
    • B2R6P0
    • P78439
    • P78447
    • Q13815
    • Q5TC78
    • Q7KZ43
    • Q7KZ97
    • Q9UC78

    Protein attributes for SERPINC1 Gene

    Size:
    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 Asn 128, Asn 167, Asn 187, and Asn 224
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SERPINC1 (Serpin C1/Antithrombin-III)

No data available for DME Specific Peptides for SERPINC1 Gene

Domains & Families for SERPINC1 Gene

Gene Families for SERPINC1 Gene

Protein Domains for SERPINC1 Gene

Suggested Antigen Peptide Sequences for SERPINC1 Gene

Graphical View of Domain Structure for InterPro Entry

P01008

UniProtKB/Swiss-Prot:

ANT3_HUMAN :
  • Belongs to the serpin family.
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.

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

  • Taconic Biosciences Mouse Models for SERPINC1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERPINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS,TAS --
GO:0005615 extracellular space IEA,IDA 1695900
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 & Interactions for SERPINC1 Gene

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

SIGNOR curated interactions for SERPINC1 Gene

Activates:

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 IEA,TAS --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with SERPINC1: view

Drugs & Compounds for SERPINC1 Gene

(76) 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 812,256
Ardeparin Approved, Withdrawn Pharma binder, Target, potentiator 0
Tinzaparin Approved Pharma cofactor, Target, potentiator 37
Fondaparinux sodium Approved, Investigational Pharma Target, potentiator 0
Dalteparin Approved Pharma Target, potentiator 303

(54) Additional Compounds for SERPINC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
SERPINC1
ECgene alternative splicing isoforms for
SERPINC1

Expression for SERPINC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

SERPINC1

SOURCE GeneReport for Unigene cluster for SERPINC1 Gene:

Hs.75599

mRNA Expression by UniProt/SwissProt for SERPINC1 Gene:

P01008-ANT3_HUMAN
Tissue specificity: Found in plasma.
genes like me logo Genes that share expression patterns with SERPINC1: view

Primer Products

Orthologs for SERPINC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERPINC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINC1 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia SERPINC1 34 35
  • 87.69 (n)
dog
(Canis familiaris)
Mammalia SERPINC1 34 35
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Serpinc1 34 16 35
  • 85.6 (n)
rat
(Rattus norvegicus)
Mammalia Serpinc1 34
  • 84.74 (n)
oppossum
(Monodelphis domestica)
Mammalia SERPINC1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINC1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINC1 34 35
  • 70.25 (n)
lizard
(Anolis carolinensis)
Reptilia SERPINC1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinc1 34
  • 65.33 (n)
Str.15365 34
African clawed frog
(Xenopus laevis)
Amphibia serpinc1-prov 34
zebrafish
(Danio rerio)
Actinopterygii serpinc1 34 35
  • 62.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9346 34
fruit fly
(Drosophila melanogaster)
Insecta Spn1 35
  • 31 (a)
ManyToMany
Spn3 35
  • 31 (a)
ManyToMany
CG9460 36
  • 30 (a)
Spn2 35
  • 30 (a)
ManyToMany
CG6687 36
  • 28 (a)
Spn28Da 35
  • 28 (a)
ManyToMany
Spn42Db 35
  • 28 (a)
ManyToMany
Spn42De 35
  • 27 (a)
ManyToMany
Spn43Aa 35
  • 27 (a)
ManyToMany
Spn6 35
  • 27 (a)
ManyToMany
Spn4 35
  • 26 (a)
ManyToMany
Spn42Dc 35
  • 26 (a)
ManyToMany
Spn7 35
  • 26 (a)
ManyToMany
Spn28Db 35
  • 25 (a)
ManyToMany
Spn47C 35
  • 24 (a)
ManyToMany
Spn43Ab 35
  • 23 (a)
ManyToMany
nec 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea srp-7 36
  • 30 (a)
rice
(Oryza sativa)
Liliopsida Os01g0765400 34
  • 46.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6842 35
  • 33 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SERPINC1 (if available)
TreeFam:
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 Antithrombin III deficiency (AT3D) [MIM:613118], Pathogenic 173,903,978(-) TCAAG(A/G)CCAAC reference, missense
rs121909547 Antithrombin III deficiency (AT3D) [MIM:613118], Antithrombin III deficiency (AT3D) [MIM:613118], Pathogenic 173,914,726(-) ACCGG(A/C/T)GTGTC reference, missense
rs121909548 Antithrombin III deficiency (AT3D) [MIM:613118], Pathogenic 173,904,038(-) CAGCT(C/G/T)CAAGT reference, missense
rs121909549 Antithrombin III deficiency (AT3D) [MIM:613118], Antithrombin III deficiency (AT3D) [MIM:613118], Pathogenic 173,904,010(-) TGGCC(A/C/G)TTCGC reference, missense
rs121909550 Antithrombin III deficiency (AT3D) [MIM:613118], Pathogenic 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
nsv831926 CNV gain+loss 17160897
esv2758978 CNV loss 17122850

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)
SERPINC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINC1

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

Disorders for SERPINC1 Gene

MalaCards: The human disease database

(111) MalaCards diseases for SERPINC1 Gene - From: 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
  • antithrombin iii deficiency
disseminated intravascular coagulation
  • defibrination syndrome
sagittal sinus thrombosis
  • thrombosis of superior longitudinal sinus
protein s deficiency
  • protein s deficiency disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANT3_HUMAN
  • 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.55}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPINC1

Genetic Association Database (GAD)
SERPINC1
Human Genome Epidemiology (HuGE) Navigator
SERPINC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINC1
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. (Am. J. Hematol. 2004) 3 4 22 64
  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 46 64
  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 22 64
  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. (Am. J. Hematol. 1995) 3 4 22 64
  5. Biological implications of a 3 A structure of dimeric antithrombin. (PMID: 8087553) Carrell R.W. … Wardell M.R. (Structure 1994) 3 4 22 64

Products for SERPINC1 Gene

Sources for SERPINC1 Gene

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