SERPINC1 Gene
protein-coding GIFtS : 63
GC01M172139
serpin peptidase inhibitor, clade C (antithrombin), member 1 (Previous names: serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: AT3 )
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Aliases & Descriptions for SERPINC1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AT3 2 , 3 ATIII 1 , 2 , 3 MGC22579 1 , 2 OTTHUMP00000035393 2
Descriptions antithrombin (aa 375-432) 2 antithrombin III 2 coding sequence signal peptide antithrombin part 1 2 serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1 1 , 2 serpin peptidase inhibitor, clade C (antithrombin), member 1 2 serpin peptidase inhibitor, clade C, member 1 2 signal peptide antithrombin part 1 2
Search outside databases for aliases for SERPINC1 genePrevious GC identifers: GC01M171412 GC01M169301 GC01M170453 GC01M171112 GC01M170604
Summaries for SERPINC1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 Function : Most important serine protease inhibitor in plasma that regulates the blood coagulationcascade. AT-III inhibits thrombin as well as factors IXa, Xa and XIa. Its inhibitory activity isgreatly enhanced in the presence of heparin
Gene Wiki entry for SERPINC1 (Antithrombin)
Genomic Location for SERPINC1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SERPINC1 gene Entrez Gene cytogenetic band: 1q23-q25.1 Ensembl cytogenetic band: 1q25.1 HGNC cytogenetic band: 1q23-q25.1 SERPINC1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M172139:
(about GC identifiers )
Start:
172,139,562 bp from pter
End:
172,153,096 bp from pter
Size:
13,535 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000001.9 NT_004487.18 Proteins for SERPINC1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 (See
protein sequence )Recommended Name: Antithrombin-III precursor Size : 464 amino acids; 52602 Da
Subcellular location : Secreted, extracellular space
Mass spectrometry : Mass=57863; Method=Electrospray; Range=33-464; Source=PubMed:7734359;
Mass spectrometry : Mass=57911; Method=Electrospray; Range=33-464; Note=Variant Thr-414;Source=PubMed:7734359;
PDB structures from and Proteopedia : 1ANT (3D)
 1ATH (3D)
 1AZX (3D)
 1BR8 (3D)
 1DZG (3D)
 1DZH (3D)
 1E03 (3D)
 1E04 (3D)
 1E05 (3D)
 1JVQ (3D)
 1LK6 (3D)
 1NQ9 (3D)
 1OYH (3D)
 1R1L (3D)
 1SR5 (3D)
 1T1F (3D)
 1TB6 (3D)
 2ANT (3D)
 2B4X (3D)
 2B5T (3D)
 2BEH (3D)
 2GD4 (3D)
 2HIJ (3D)
 2ZNH (3D)
 3EVJ (3D)
 
Secondary accessions : B2R6P0 P78439 P78447 Q13815 Q5TC78 Q7KZ43 Q7KZ97 Q9UC78
REFSEQ proteins: NP_000479.1 ENSEMBL proteins: ENSP00000356671 ENSP00000307953 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: SERPINC1 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for SERPINC1: Assays for SERPINC1:
Protein
Domains/ Families for SERPINC1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P01008 ProtoNet protein and cluster: P01008
1 Blocks protein family : IPB000215 Serpin UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 Similarity : Belongs to the serpin family
Gene Function for SERPINC1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000488 Applied Biosystems Silencer ® siRNAs for SERPINC1 Sigma-Aldrich siRNA and siRNA Panels for SERPINC1 Sigma-Aldrich shRNA Panels and shRNA for SERPINC1 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000488                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000488                                  untagged cDNA clone in CMV expression vector: NM_000488  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000488 UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 Function : Most important serine protease inhibitor in plasma that regulates the blood coagulationcascade. AT-III inhibits thrombin as well as factors IXa, Xa and XIa. Its inhibitory activity isgreatly enhanced in the presence of heparin
15 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Serpinc1) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for SERPINC1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for SERPINC1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for SERPINC1 5/62 Interacting proteins for SERPINC1 (P01008 1 ENSP00000356671 3 ) via UniProtKB, MINT, and/or STRING (see all 62
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0007596 blood coagulation
IEA --
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Drugs & Compounds for SERPINC1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for SERPINC1 10/17 Novoseek chemical compound relationships for SERPINC1 gene (see all 17
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen
93.44
1250
9746270 (5), 8545565 (5), 18728028 (5), 16444428 (4) (see all 99 )
heparin pentasaccharide
90.27
42
9242619 (3), 12353073 (2), 9541411 (2), 10433728 (1) (see all 30 )
hirugen
71.48
8
8706141 (2), 7781782 (1), 14512086 (1), 10457984 (1) (see all 6 )
heparan sulfate
67.22
83
11006120 (3), 7542805 (2), 12138164 (2), 9213829 (2) (see all 56 )
homocysteine
65.69
112
12080632 (3), 8176841 (3), 17669712 (2), 15934123 (2) (see all 88 )
p-amino benzamidine
64.65
1
10648407 (1)
4-vinylaniline
61.98
1
1457941 (1)
fibrinopeptide a
61.26
7
7516205 (1), 9769933 (1), 7952409 (1), 7603735 (1) (see all 5 )
glycosaminoglycan
59.01
32
7888673 (2), 1740413 (2), 7806495 (2), 8429040 (1) (see all 22 )
rivaroxaban
57.96
3
17404541 (1), 19170587 (1), 17701479 (1)
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Transcripts for SERPINC1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000488 Sigma-Aldrich siRNA and siRNA Panels for SERPINC1 Sigma-Aldrich shRNA Panels and shRNA for SERPINC1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000488
REFSEQ mRNAs for SERPINC1 gene: NM_000488.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000488
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000488                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000488                                  untagged cDNA clone in CMV expression vector: NM_000488  
Additional cDNA sequence: AF130100.1 AK312654.1 BC022309.1 CR619869.1 D29832.1
9 DOTS entries : DT.417074 DT.95152449 DT.91754456 DT.100815145 DT.91754464 DT.95226132 DT.100815146 DT.91754455 DT.121424933
24/60 AceView cDNA sequences (see all 60
):AV646887 AV656549 AV654825 AV661445 AL532135 AV691715 AV648982 AV647437 AV686233 AV648634 BC022309 BG567450 AV653713 BG564842 AV655960 AV695001 AV657158 BG567126 AV682951 AV684449 AV661758 AV647404 BG617043 AV647313
highest scoring ESTs for SERPINC1 :AL532135 AV686225 AV690770 AV691885 BE971193 BG562782 BG563372 BG564415 BG564766 BG567126
Unigene Cluster for SERPINC1: Serpin peptidase inhibitor, clade C (antithrombin), member 1 Hs.75599 [show with all ESTs ] Unigene Representative Sequence: AF130100 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINC1 ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 SP1 :       -   -   -                       SP2 :       -   -   -           -   -   -   -       SP3 :       -                           SP4 :       -   -                         SP5 :           -                      
About this scheme ECgene alternative splicing isoforms for SERPINC1 2 Ensembl transcripts including schematic representations : ENST00000367698
ENST00000351522
Expression for SERPINC1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SERPINC1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SERPINC1 1 / 2 / 3
4 probe-sets matching SERPINC1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGCAGAGTAGSOURCE GeneReport for Unigene cluster: Hs.75599 Expression variation in blood from EXPOLDB for SERPINC1
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 Tissue specificity : Found in plasma
Orthologs for SERPINC1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SERPINC1 gene from 5/13 species (see all 13
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
SERPINC11
--
serpin peptidase inhibitor, clade C (antithrombin), more
86.44(n) 87.01(a)
480066 XM_845386.1 XP_850479.1
chimpanzee (Pan troglodytes)
SERPINC11
--
serpin peptidase inhibitor, clade C (antithrombin), more
99.43(n) 99.57(a)
457528 XM_001151521.1 XP_001151521.1
cow (Bos taurus)
SERPINC11
--
serpin peptidase inhibitor, clade C (antithrombin), more
87.69(n) 87.26(a)
540261 NM_001034698.1 NP_001029870.1
rat (Rattus norvegicus)
Serpinc11
--
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), more
84.74(n) 85.96(a)
304917 NM_001012027.1 NP_001012027.1
mouse (Mus musculus)
Serpinc11 , 5
1 (84.60 cM) 5
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), more 1, 5
85.6(n) 1 87.69(a) 1
11905 1 NM_080844.3 1 NP_543120.1 1 AB043785 5 AI114908 5 (see all 11 )
About this table Species with no ortholog for SERPINC1 ENSEMBL Gene Tree for SERPINC1 Paralogs for SERPINC1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SERPINC1 gene SERPINH1 2 SERPINB5 2
SNPs/Variants for SERPINC1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SERPINC1 (up to first 250kb)
Disorders & Mutations for SERPINC1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 107300 UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008
Defects in SERPINC1 are the cause of antithrombin-III deficiency (AT3D) [MIM:107300]. AT3Dis an important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by atendency to recurrent thrombosis. AT3D is classified into 4 types. Type I: characterized by a 50%decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-bindingdomain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels arenormal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations
10/99 Novoseek disease relationships for SERPINC1 gene (see all 99
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
antithrombin iii deficiency
96.25
262
12897104 (4), 18926244 (3), 10987006 (3), 9479609 (3) (see all 99 )
thrombophilia
93.85
205
10625206 (3), 9630308 (2), 17107615 (2), 18760065 (2) (see all 99 )
protein s deficiency
91.98
147
15706484 (3), 9746774 (3), 9003158 (2), 11486107 (2) (see all 99 )
apc resistance
91.64
166
16422365 (2), 8834124 (2), 9865798 (2), 10195932 (2) (see all 99 )
thrombosis
89.29
332
12888870 (5), 8148939 (4), 18575842 (4), 9764672 (3) (see all 99 )
protein c deficiency
88.92
80
2363123 (2), 17244921 (2), 12542252 (2), 9158617 (2) (see all 75 )
disseminated intravascular coagulation
88.01
111
8572009 (3), 8813091 (3), 9662467 (2), 9577159 (2) (see all 82 )
thromboembolism
86.89
123
19132194 (4), 10515862 (3), 11127851 (2), 9342999 (2) (see all 91 )
venous thrombosis
86.32
144
1696577 (4), 12542252 (3), 9479609 (3), 12492585 (2) (see all 99 )
coagulopathy
81.89
50
7514043 (3), 1638825 (1), 8419725 (1), 9008760 (1) (see all 42 )
About this table Human Gene Mutation Database : SERPINC1 Genetic Association Database: SERPINC1 Human Genome Epidemiology Navigator: SERPINC1 (8 documents)
Medical News for SERPINC1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SERPINC1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/2302 PubMed articles for SERPINC1 gene (see all 2302
): Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. (PubMed id 12595305) 1, 3, 4, 6 Picard V.... Aiach M. (2003) Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. (PubMed id 8443391) 1, 3, 4, 6 Okajima K.... Takatsuki K. (1993) Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. (PubMed id 7959685) 1, 3, 4 Millar D.S.... Cooper D.N. (1994) Site-directed mutagenesis of alanine-382 of human antithrombin III. (PubMed id 2013320) 1, 3, 4 Austin R.C.... Blachjman M.A. (1991) Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. (PubMed id 16908819) 1, 3, 4 Kuhli C.... Hattenbach L.-O. (2006) Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. (PubMed id 12353073) 1, 3, 4 Mushunje A.... Carrell R.W. (2002) Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. (PubMed id 7832187) 1, 3, 4 Okajima K.... Takatsuki K. (1995) Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins. (PubMed id 1906811) 1, 3, 4 Perry D.J....Carrell R.W. (1991) Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699) 3, 4 Lewandrowski U.... Sickmann A. (2006) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 3, 4 Liu T.... Smith R.D. (2005)
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Wikipedia http://en.wikipedia.org/wiki/Antithrombin Antithrombin mutation database http://www1.imperial.ac.uk/medicine/about/divisions/is/haemo/coag/antithrombin/ GeneReviews http://www.genetests.org/query?gene=SERPINC1 SeattleSNPs http://pga.gs.washington.edu/data/serpinc1/ SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SERPINC1
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