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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
  • Antithrombin-III 3 4
  • 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 Isoform 3
  • Antithrombin III 2
  • Serpin C1 4
  • ATIII-R2 3
  • ATIII-T1 3
  • ATIII-T2 3
  • 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
  • GC01M173926
  • GC01M173950
  • GC01M173964
  • GC01M173999
  • GC01M174014
  • GC01M174024
  • GC01M174037
  • GC01M174050

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 Antithrombin Iii Deficiency and Disseminated Intravascular Coagulation. Among its related pathways are Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPINB3.

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

GeneHancer (GH) Regulatory Elements for SERPINC1 Gene

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 1.1 EPDnew 600.7 +0.0 31 0.1 ZFX CEBPG SP1 RXRA CEBPA RXRB FOXA2 GABPA NR2C1 ZNF766 SERPINC1 PIR48592
GH01J174798 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.2 -883.2 -883232 4 ZNF384 ZSCAN21 SP7 SP1 ZNF548 CREM PRDM1 MLLT1 MZF1 IKZF1 RABGAP1L SERPINC1 RC3H1 GC01M174826 BANF1P4
GH01J174873 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 12.4 -958.8 -958824 4.8 MLLT1 GTF2F1 SP1 PRDM1 ZNF639 SMARCA4 IKZF1 RXRA DPF2 ZIC2 RABGAP1L SERPINC1 RNU6-307P ENSG00000237249 GC01M174850
GH01J173861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.4 +50.6 50618 10.3 MTA3 ZFX SP1 ELF3 CBFA2T2 ZNF148 NKRF POLR2A MLLT1 GTF2F1 CENPL ZBTB37 SNORD80 SNORD79 SNORD78 SNORD77 SNORD76 SNORD75 SNORD74 SNORD44
GH01J174017 Promoter 0.8 Ensembl 25.2 -99.9 -99923 0.6 ZNF384 MZF1 ZSCAN5C ZBTB17 PRDM6 ZNF362 RC3H1-IT1 SERPINC1 RNA5SP67 CENPL DARS2 RC3H1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SERPINC1 Gene
chr1:173,903,800-173,917,378
(GRCh38/hg38)
Size:
13,579 bases
Orientation:
Minus strand
chr1:173,872,942-173,886,516
(GRCh37/hg19)
Size:
13,575 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 isoforms=187, isoforms=128, posLast=224224, and posLast=167167
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ANT3_HUMAN (766)

Other Protein References for SERPINC1 Gene

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 NAS,IEA 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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for SERPINC1 - Now 50% OFF >
  • * SERPINC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SERPINC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
cytosol 2
cytoskeleton 1
nucleus 1
lysosome 1
peroxisome 0
golgi apparatus 0

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: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

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

(84) 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, Target, potentiator, cofactor 983
Ardeparin Approved, Investigational, Withdrawn Pharma Target, potentiator, binder 0
Danaparoid Approved, Withdrawn Pharma Target, positive allosteric modulator, inhibitor 3
Fondaparinux Approved, Investigational Pharma Target, potentiator 83
Tinzaparin Approved Pharma Target, potentiator, cofactor 45

(48) 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

Unigene Clusters for SERPINC1 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for SERPINC1 - Now 50% OFF >
  • * SERPINC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SERPINC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 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, 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.

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
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

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 35 34
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINC1 35 34
  • 87.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINC1 35 34
  • 87.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinc1 17 35 34
  • 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 35 34
  • 70.25 (n)
OneToOne
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 35 34 34
  • 62.76 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9346 34
fruit fly
(Drosophila melanogaster)
Insecta Spn1 35
  • 31 (a)
ManyToMany
Spn3 35
  • 31 (a)
ManyToMany
Spn2 35
  • 30 (a)
ManyToMany
CG9460 36
  • 30 (a)
Spn42Db 35
  • 28 (a)
ManyToMany
Spn28Da 35
  • 28 (a)
ManyToMany
CG6687 36
  • 28 (a)
Spn43Aa 35
  • 27 (a)
ManyToMany
Spn6 35
  • 27 (a)
ManyToMany
Spn42De 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)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINC1: view image

Paralogs for SERPINC1 Gene

Variants for SERPINC1 Gene

Sequence variations from dbSNP and Humsavar for SERPINC1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1170430756 Antithrombin III deficiency (AT3D) [MIM:613118] 173,911,987(-) T/C coding_sequence_variant, missense_variant
rs1188571702 Antithrombin III deficiency (AT3D) [MIM:613118] 173,903,962(-) A/G coding_sequence_variant, missense_variant
rs121909546 pathogenic, Antithrombin III deficiency, Antithrombin III deficiency (AT3D) [MIM:613118] 173,903,978(-) C/T coding_sequence_variant, missense_variant
rs121909547 pathogenic, Antithrombin III deficiency, Antithrombin III deficiency (AT3D) [MIM:613118], Antithrombin III deficiency (AT3D) [MIM:613118] 173,914,726(-) G/A/T coding_sequence_variant, missense_variant
rs121909548 likely-benign, uncertain-significance, pathogenic, Antithrombin III deficiency, Antithrombin deficiency, not specified, Antithrombin III deficiency (AT3D) [MIM:613118], Antithrombin III deficiency (AT3D) [MIM:613118] 173,904,038(-) C/A/G coding_sequence_variant, missense_variant

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

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

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

Disorders for SERPINC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
antithrombin iii deficiency
  • at3d
disseminated intravascular coagulation
  • defibrination syndrome
hepatic veno-occlusive disease
  • budd-chiari 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: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.

Additional Disease Information for SERPINC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 58
  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 58
  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 23 58
  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 23 58
  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 23 58

Products for SERPINC1 Gene

Sources for SERPINC1 Gene

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