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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 HGNC Symbols for SERPINC1 Gene

  • AT3

Previous GeneCards Identifiers for SERPINC1 Gene

  • GC01M171412
  • GC01M169301
  • GC01M170453
  • GC01M171112
  • GC01M170604
  • GC01M172139
  • GC01M173872
  • GC01M145098

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

Regulatory Elements for SERPINC1 Gene

Genomic Location for SERPINC1 Gene

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

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

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

Proteomics data for SERPINC1 Gene at MOPED

Post-translational modifications for SERPINC1 Gene

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

Other Protein References for SERPINC1 Gene

ENSEMBL proteins:
Reactome Protein details:
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 for SERPINC1 Gene

Gene Families for SERPINC1 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01008

UniProtKB/Swiss-Prot:

ANT3_HUMAN :
  • P01008
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 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:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SERPINC1

In Situ Assay Products

Flow Cytometry Products

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

COMPARTMENTS
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
1 R&D Systems pathway for SERPINC1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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
Heparin
  • Arteven
9005-49-6

(10) Drugbank Compounds for SERPINC1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target
Ardeparin
target potentiator
Dalteparin
  • Daltepariininatrium
9041-08-1 target potentiator
Enoxaparin
  • 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
eltrombopag
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SERPINC1

Primer 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 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).

Protein differential expression in normal tissues for SERPINC1 Gene

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

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

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

Expression partners for SERPINC1 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SERPINC1 35
  • 87.69 (n)
  • 87.26 (a)
SERPINC1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINC1 35
  • 87.3 (n)
  • 88.31 (a)
SERPINC1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinc1 35
  • 85.6 (n)
  • 87.69 (a)
Serpinc1 16
Serpinc1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SERPINC1 35
  • 99.43 (n)
  • 99.57 (a)
SERPINC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpinc1 35
  • 84.74 (n)
  • 85.96 (a)
oppossum
(Monodelphis domestica)
Mammalia SERPINC1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINC1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINC1 35
  • 70.25 (n)
  • 69.57 (a)
SERPINC1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINC1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinc1 35
  • 65.33 (n)
  • 68.15 (a)
Str.15365 35
African clawed frog
(Xenopus laevis)
Amphibia serpinc1-prov 35
zebrafish
(Danio rerio)
Actinopterygii serpinc1 35
  • 62.76 (n)
  • 60.23 (a)
serpinc1 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9346 35
fruit fly
(Drosophila melanogaster)
Insecta CG6687 37
  • 28 (a)
CG9460 37
  • 30 (a)
nec 36
  • 21 (a)
ManyToMany
Spn1 36
  • 31 (a)
ManyToMany
Spn2 36
  • 30 (a)
ManyToMany
Spn28Da 36
  • 28 (a)
ManyToMany
Spn28Db 36
  • 25 (a)
ManyToMany
Spn3 36
  • 31 (a)
ManyToMany
Spn4 36
  • 26 (a)
ManyToMany
Spn42Db 36
  • 28 (a)
ManyToMany
Spn42Dc 36
  • 26 (a)
ManyToMany
Spn42De 36
  • 27 (a)
ManyToMany
Spn43Aa 36
  • 27 (a)
ManyToMany
Spn43Ab 36
  • 23 (a)
ManyToMany
Spn47C 36
  • 24 (a)
ManyToMany
Spn6 36
  • 27 (a)
ManyToMany
Spn7 36
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea srp-7 37
  • 30 (a)
rice
(Oryza sativa)
Liliopsida Os01g0765400 35
  • 46.26 (n)
  • 32.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6842 36
  • 33 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SERPINC1 (if available)
TreeFam:
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
SERPINC1
Human Gene Mutation Database (HGMD)
SERPINC1
Locus Specific Mutation Databases (LSDB)
SERPINC1

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

Disorders for SERPINC1 Gene

(1) OMIM Diseases for SERPINC1 Gene (107300)

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.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)
SERPINC1
Human Genome Epidemiology (HuGE) Navigator
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. 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 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 23
  4. Biological implications of a 3 A structure of dimeric antithrombin. (PMID: 8087553) Carrell R.W. … Wardell M.R. (Structure 1994) 3 4 23
  5. 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

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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