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 coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature pro... See more...

Aliases for SERPINC1 Gene

Aliases for SERPINC1 Gene

  • Serpin Family C Member 1 2 3 5
  • ATIII 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade C (Antithrombin), Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member 1 2 3
  • Antithrombin-III 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
  • Serpin C1 4
  • ATIII-R2 3
  • ATIII-T1 3
  • ATIII-T2 3
  • SERPINC1 5
  • MGC22579 2
  • 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
  • GC01M174065
  • GC01M174079
  • GC01M174094
  • GC01M174131
  • GC01M173926
  • GC01M173950
  • GC01M173964
  • GC01M173999
  • GC01M174014
  • GC01M174024
  • GC01M174037
  • GC01M174050
  • GC01M174153
  • GC01M174189

Summaries for SERPINC1 Gene

Entrez Gene Summary for SERPINC1 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 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. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]

GeneCards Summary for SERPINC1 Gene

SERPINC1 (Serpin Family C Member 1) is a Protein Coding gene. Diseases associated with SERPINC1 include Antithrombin Iii Deficiency and Thrombosis. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPINB1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINC1 Gene

Genomics for SERPINC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J173917 Promoter 0.9 EPDnew 250.7 0.0 -20 0.1 CEBPA ATF3 YY1 CHD2 FOXA2 RXRA SAP130 ZBTB33 RARA DMAP1 HSALNG0008550 SERPINC1 RF00017-345 RC3H1
GH01J174798 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 13.2 -883.3 -883283 4 ZNF207 ZNF600 ZNF580 ATF2 POLR2A ZNF10 ZIC2 YY1 BCL11A SIN3A RABGAP1L SERPINC1 RC3H1 RF00017-348 piR-49097-004 CACYBP GPR52
GH01J174021 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -104.5 -104472 4.8 BCLAF1 ZNF207 MYC IKZF1 ZNF600 ZNF592 POLR2A ZNF10 ATF3 ZSCAN16 LINC02776 RC3H1 ANKRD45 RNA5SP67 SERPINC1 CENPL DARS2 GAS5 HSALNG0008559
GH01J173861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 +50.6 50567 10.3 BCLAF1 SP1 ZNF207 IKZF1 NCOR1 ZNF600 MYC SSRP1 JUND ZNF580 ZBTB37 GAS5-AS1 CENPL HG975395 SNORA103 SNORD44 SNORD74 SNORD75 SNORD76 SNORD77
GH01J174873 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12.4 -958.8 -958783 4.6 NCOR1 MYC IKZF1 ZNF592 ATF3 POLR2A NFIC ZIC2 TBP MNT RABGAP1L SERPINC1 RNU6-307P lnc-CACYBP-3 piR-37895-012 CACYBP GPR52
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINC1

Top Transcription factor binding sites by QIAGEN in the SERPINC1 gene promoter:
  • ATF
  • CUTL1
  • Egr-1
  • Evi-1
  • HTF
  • N-Myc
  • PPAR-alpha

Genomic Locations for SERPINC1 Gene

Latest Assembly
chr1:173,903,800-173,917,327
(GRCh38/hg38)
Size:
13,528 bases
Orientation:
Minus strand

Previous Assembly
chr1:173,872,938-173,886,465
(GRCh37/hg19 by Entrez Gene)
Size:
13,528 bases
Orientation:
Minus strand

chr1:173,872,947-173,886,516
(GRCh37/hg19 by Ensembl)
Size:
13,570 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 Asn128, Asn167, Asn187, and Asn224
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ANT3_HUMAN (766)

Other Protein References for SERPINC1 Gene

Antibodies for research

No data available for DME Specific Peptides for SERPINC1 Gene

Domains & Families for SERPINC1 Gene

Gene Families for SERPINC1 Gene

HGNC:
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

GenScript: Design optimal peptide antigens:
  • Serpin C1 (ANT3_HUMAN)
  • Antithrombin (Q8IZZ8_HUMAN)
  • Antithrombin (Q8IZZ9_HUMAN)
  • Antithrombin (Q8J000_HUMAN)
  • Antithrombin (Q8J001_HUMAN)

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.

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 IBA,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 Models for research

  • Taconic Biosciences Mouse Models for SERPINC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINC1

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
endoplasmic reticulum 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 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 IBA,IDA 1695900
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
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

Pathways by source for SERPINC1 Gene

1 R&D Systems pathway for SERPINC1 Gene
3 Qiagen pathways for SERPINC1 Gene
  • Blood Coagulation Cascade
  • Extrinsic Prothrombin Activation Pathway
  • Intrinsic Prothrombin Activation Pathway

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

Drugs & Compounds for SERPINC1 Gene

(93) 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 Target, potentiator, cofactor 1160
Ardeparin Approved, Investigational, Withdrawn Pharma Target, potentiator, binder 0
Danaparoid Approved, Withdrawn Pharma Target, positive allosteric modulator, inhibitor 4
Fondaparinux Approved, Investigational Pharma Target, potentiator 90
Tinzaparin Approved Pharma Target, potentiator, cofactor 452

(45) 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

mRNA/cDNA for SERPINC1 Gene

7 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINC1

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

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, MaxQB, and MOPED for SERPINC1 Gene



Protein tissue co-expression partners for SERPINC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SERPINC1 Gene

  • Liver(5)
  • Blood(4.7)
  • Nervous system(4.5)
  • Bone marrow(4.4)
  • Heart(3.9)
  • Kidney(3.3)
  • Intestine(3)
  • Lung(2.7)
  • Pancreas(2.6)
  • Gall bladder(2.6)
  • Adrenal gland(2.4)
  • Eye(2.3)
  • Stomach(2.3)
  • Muscle(2.3)
  • Skin(2.3)
  • Urine(2.2)
  • Spleen(2)

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

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

Primer products for research

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 29 30
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SERPINC1 29 30
  • 87.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SERPINC1 29 30
  • 87.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Serpinc1 29 16 30
  • 85.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serpinc1 29
  • 84.74 (n)
Oppossum
(Monodelphis domestica)
Mammalia SERPINC1 30
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SERPINC1 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SERPINC1 29 30
  • 70.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SERPINC1 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia serpinc1 29
  • 65.33 (n)
Str.15365 29
African clawed frog
(Xenopus laevis)
Amphibia serpinc1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii serpinc1 29 30
  • 62.76 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9346 29
Fruit Fly
(Drosophila melanogaster)
Insecta Spn1 30
  • 31 (a)
ManyToMany
Spn3 30
  • 31 (a)
ManyToMany
Spn2 30
  • 30 (a)
ManyToMany
CG9460 31
  • 30 (a)
Spn42Db 30
  • 28 (a)
ManyToMany
Spn28Da 30
  • 28 (a)
ManyToMany
CG6687 31
  • 28 (a)
Spn43Aa 30
  • 27 (a)
ManyToMany
Spn6 30
  • 27 (a)
ManyToMany
Spn42De 30
  • 27 (a)
ManyToMany
Spn4 30
  • 26 (a)
ManyToMany
Spn42Dc 30
  • 26 (a)
ManyToMany
Spn7 30
  • 26 (a)
ManyToMany
Spn28Db 30
  • 25 (a)
ManyToMany
Spn47C 30
  • 24 (a)
ManyToMany
Spn43Ab 30
  • 23 (a)
ManyToMany
nec 30
  • 21 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea srp-7 31
  • 30 (a)
Rice
(Oryza sativa)
Liliopsida Os01g0765400 29
  • 46.26 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6842 30
  • 33 (a)
OneToOne
Species where no ortholog for SERPINC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINC1: view image
Alliance of Genome Resources:
Additional Orthologs for SERPINC1

Paralogs for SERPINC1 Gene

Variants for SERPINC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1001692 Uncertain Significance: Antithrombin III deficiency 173,914,678(-) A/G
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His)
MISSENSE
1013539 Uncertain Significance: not provided 173,909,822(-) C/T
NM_000488.4(SERPINC1):c.883G>A (p.Val295Met)
MISSENSE
1020274 Uncertain Significance: Antithrombin III deficiency 173,909,834(-) G/A
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)
MISSENSE
1028786 Uncertain Significance: Antithrombin III deficiency 173,914,553(-) C/T
NM_000488.4(SERPINC1):c.408G>A (p.Glu136=)
SYNONYMOUS
1046588 Uncertain Significance: Antithrombin III deficiency 173,910,851(-) A/T
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SERPINC1 Gene

Human Gene Mutation Database (HGMD)
SERPINC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINC1
Leiden Open Variation Database (LOVD)
SERPINC1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SERPINC1 Gene

MalaCards: The human disease database

(158) MalaCards diseases for SERPINC1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
antithrombin iii deficiency
  • at3d
thrombosis
  • thrombosis of blood vessel
disseminated intravascular coagulation
  • defibrination syndrome
sagittal sinus thrombosis
  • thrombosis of superior longitudinal sinus
hepatic veno-occlusive disease
  • veno-occlusive 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: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 variants affecting the gene represented in this entry.

Additional Disease Information for SERPINC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINC1: view

No data available for Genatlas for SERPINC1 Gene

Publications for SERPINC1 Gene

  1. Thrombophilia and unexplained pregnancy loss in Indian patients. (PMID: 19004141) Vora S … Ghosh K (The National medical journal of India 2008) 3 22 40
  2. Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity. (PMID: 15853774) Szabo R … Bugge TH (The Biochemical journal 2005) 3 4 22
  3. 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
  4. 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 40
  5. 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

Products for SERPINC1 Gene

Sources for SERPINC1 Gene