SERPINC1 Gene
protein-coding GIFtS: 68
GCID: GC01M173872
|
|
serpin peptidase inhibitor, clade C (antithrombin), member...(Previous names: serine (or cysteine) proteinase inhibitor, clade C (antithrombin),...)
(Previous symbol: AT3)
| |
Aliases
for SERPINC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member 11 2 | | AT3D2 | | AT31 2 3 5 | | THPH72 | | ATIII1 2 3 | | Antithrombin III2 | | Serine (Or Cysteine) Proteinase Inhibitor, Clade C (Antithrombin), Member 11 2 | | Antithrombin-III1 | | Serpin C12 3 | | Serine-Cysteine Proteinase Inhibitor Clade C Member 12 | | MGC225791 | | |
Export aliases for SERPINC1 gene to outside databasesPrevious GC identifers: GC01M171412 GC01M169301 GC01M170453 GC01M171112 GC01M170604 GC01M172139 GC01M145098 |
Summaries
for SERPINC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SERPINC1:
The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This proteininhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the bloodcoagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of themature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence ofheparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-IIIdeficiency. (provided by RefSeq, Jul 2009)
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008Function: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-IIIinhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatlyenhanced in the presence of heparin
Gene Wiki entry for SERPINC1 (Antithrombin)
|
Genomic Views
for SERPINC1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SERPINC1 gene promoter:
N-Myc PPAR-alpha Egr-1 HTF CUTL1 Evi-1 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for SERPINC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q25.1 Ensembl cytogenetic band: 1q25.1 HGNC cytogenetic band: 1q25.1SERPINC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M173872: view genomic region
(about GC identifiers)
Start:
|
173,872,942 bp from pter |
End:
|
173,886,516 bp from pter |
Size:
|
13,575 bases |
Orientation:
|
minus strand |
|
Proteins
for SERPINC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 (See
protein sequence)Recommended Name: Antithrombin-III precursor Size: 464 amino acids; 52602 Da
Subunit: Forms protease inhibiting heterodimer with TMPRSS7
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;
6/27 PDB 3D structures from  and Proteopedia  for SERPINC1 (see all 27):1ANT (3D)
1ATH (3D)
1AZX (3D)
1BR8 (3D)
1DZG (3D)
1DZH (3D)
Secondary accessions: B2R6P0 P78439 P78447 Q13815 Q5TC78 Q7KZ43 Q7KZ97 Q9UC78Explore the universe of human proteins at neXtProt for SERPINC1: NX_P01008
Post-translational modifications:
Phosphorylation sites are present in the extracellular medium1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P01008
SERPINC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000479.1
ENSEMBL proteins: ENSP00000356671 Reactome Protein details: P01008
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
SERPINC1 for ontologies About GeneDecksing
SERPINC1 Antibody Products:
Assay Products for SERPINC1: |
Protein
Domains /
Families
for SERPINC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SERPINC1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P01008ProtoNet protein and cluster: P01008 1 Blocks protein family: IPB000215 Serpin
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008Similarity: Belongs to the serpin family |
Function
for SERPINC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008Function: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-IIIinhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatlyenhanced in the presence of heparin
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINC1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SERPINC1 (NM_000488) | |  | Sino Biological Human cDNA Clone for SERPINC1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SERPINC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINC1 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
SERPINC1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SERPINC1:
Animal Models:
Mouse knock-out Serpinc1tm1Sai for SERPINC1
12 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Serpinc1):
SERPINC1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SERPINC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Formation of Fibrin Clot (Clotting Cascade) | | | 2 | Blood Coagulation Cascade | | | 3 | Complement and coagulation cascades | | | 4 | Common Pathway | | | 5 | Selected targets of C/EBPalpha | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for SERPINC1
1  R&D Systems Pathway for SERPINC1
3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SERPINC1
2  BioSystems Pathways for SERPINC1
3 
Reactome Pathways for SERPINC1
1 
Kegg Pathway (Kegg details for SERPINC1):
SERPINC1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPINC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)
5/22 Interacting proteins for SERPINC1 (P010083 ENSP000003566714) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | 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 |
IBA | -- | | GO:0050728 | negative regulation of inflammatory response |
IEA | -- |
SERPINC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for SERPINC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SERPINC1 for compounds About GeneDecksing
 Browse Tocris compounds for SERPINC1
1 HMDB Compound for SERPINC1 About this table
10 DrugBank Compounds for SERPINC1 About this table
10/118 Novoseek chemical compound relationships for SERPINC1 gene (see all 118) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| heparin |
94.1 |
2623 |
8180343 (9), 20079161 (9), 8788110 (9), 2237824 (8) (see all 99) |
| fibrinogen |
93.5 |
1299 |
9746270 (5), 8545565 (5), 18728028 (5), 16444428 (4) (see all 99) |
| heparin pentasaccharide |
90.5 |
49 |
9242619 (3), 12353073 (2), 9541411 (2), 10433728 (1) (see all 33) |
| hirudin |
86.9 |
152 |
8706141 (3), 18827975 (3), 18772359 (3), 12361208 (2) (see all 99) |
| fondaparinux |
83.2 |
76 |
19690236 (6), 12383040 (4), 15317404 (2), 12871328 (2) (see all 51) |
| argatroban |
83.1 |
103 |
12897104 (5), 18636042 (4), 9528269 (4), 9288875 (3) (see all 59) |
| bivalirudin |
77 |
30 |
12812377 (2), 17560876 (2), 15320792 (1), 18452778 (1) (see all 24) |
| ximelagatran |
72 |
11 |
15320792 (1), 18506123 (1), 18393143 (1), 14760212 (1) (see all 10) |
| hirugen |
70.8 |
8 |
8706141 (2), 7781782 (1), 14512086 (1), 10457984 (1) (see all 6) |
| dermatan sulfate |
68.7 |
40 |
7833476 (3), 2226466 (2), 15533757 (2), 1554154 (1) (see all 27) |
1 PharmGKB related drug/compound annotation for SERPINC1 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about SERPINC1 / ANT3
|
Transcripts
for SERPINC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SERPINC1 gene: NM_000488.3 Unigene Cluster for SERPINC1: Serpin peptidase inhibitor, clade C (antithrombin), member 1 Hs.75599 [show with all ESTs]Unigene Representative Sequence: AF1301003 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000367698(uc001gjt.3) ENST00000487183 ENST00000494024
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINC1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SERPINC1 (NM_000488) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SERPINC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINC1 |
Additional cDNA sequence: AF130100.1 AK312654.1 BC022309.1 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): AV661445 AV656549 AV654825 AV646887 AV661758 AV686233 BG564842 AV648982 AV658713 AV647313 AV684449 AV691715 AL532135 BC022309 AV695001 AV653713 BG567450 AV647437 BG617043 AV647404 AV648634 AV682951 AV657158 AV655960
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINC1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
|---|
|
| SP1: | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | - | | | | | | | | | | - | | - | | - | | - | | | | | | |
| SP3: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SERPINC1
|
Expression
for SERPINC1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SERPINC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCAGAGTAG
About this image
See SERPINC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SERPINC1
SOURCE GeneReport for Unigene cluster: Hs.75599
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008Tissue specificity: Found in plasma
SABiosciences Expression via Pathway-Focused PCR Arrays including SERPINC1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SERPINC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SERPINC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINC1 |
Orthologs
for SERPINC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SERPINC1 gene from 5/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SERPINC11 |
serpin peptidase inhibitor, clade C (antithrombin), more |
70.25(n)
69.57(a) |
|
424440 XM_422282.3 XP_422282.3 |
lizard
(Anolis carolinensis) |
Reptilia |
SERPINC16 |
-- |
60(a) |
1 ↔ 1 |
4(71428264-71441485) |
African clawed frog
(Xenopus laevis) |
Amphibia |
serpinc1-prov2 |
serine (or cysteine) proteinase inhibitor, clade C more |
75.85(n) |
|
BC041211.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
serpinc12 |
serine (or cysteine) proteinase inhibitor, clade C more |
76.12(n) |
|
321545 AF515272.1 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
SRP31 |
serpin-Z1 |
45.86(n)
33.9(a) |
|
842706 NM_105076.1 NP_176586.1 |
ENSEMBL Gene Tree for SERPINC1 (if available)
TreeFam Gene Tree for SERPINC1 (if available) |
Paralogs
for SERPINC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SERPINC1 gene
- SERPINB72 SERPINB12 SERPINI12 SERPINB52 SERPINB122 SERPINI22 SERPINB22 SERPINB102
- SERPINB32 SERPINB42 SERPINE22 SERPINB62 SERPINB92 SERPINE12 SERPINE32 SERPINB132
- SERPINB82
18/23 SIMAP similar genes for SERPINC1 using alignment to 2 protein entries: ANT3_HUMAN (see all proteins)
(see all similar genes):AT3 SERPINB1 SERPINB3 SERPINB7 SERPINB8 SERPINB11
SCCA2 SERPINB4 SERPINB6 SERPINE1 SERPINI1 SERPINB10
SERPINB13 SERPINA3 SERPINA6 SERPINB9 SERPINI2 SERPINE2
SERPINC1 for paralogs About GeneDecksing
|
Genomic Variants
for SERPINC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SERPINC1 (173872942 - 173886516 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SERPINC1
1 CNV: 3320
Human Gene Mutation Database (HGMD): SERPINC1
Locus Specific Mutation Databases (LSDB): SERPINC1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SERPINC1 |
|
Disorders
/ Diseases
for SERPINC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SERPINC1 for disorders About GeneDecksing
OMIM gene information: 107300
OMIM disorders: 613118
UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008
Defects in SERPINC1 are the cause of antithrombin III deficiency (AT3D) [MIM:613118]. AT3D is an importantrisk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency 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-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-IIIantigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations
20/237  diseases for SERPINC1 (see all 237): About MalaCardsantithrombin iii deficiency legg-calve-perthes disease alpha-1-antichymotrypsin deficiency sagittal sinus thrombosis
disseminated intravascular coagulation factor xii deficiency severe pre-eclampsia factor vii deficiency
heparin-induced thrombocytopenia deep vein thrombosis retinal vein occlusion alpha 1-antitrypsin deficiency
pre-eclampsia portal vein thrombosis patent foramen ovale spinal cord injury
klippel-trenaunay syndrome suppurative otitis media retinal artery occlusion spinal cord infarction
20 diseases from the University of Copenhagen DISEASES database for SERPINC1:Disseminated intravascular coagulation Antithrombin III deficiency Protein S deficiency Vascular disease
Protein C deficiency Thrombocytopenia Myocardial infarction Antiphospholipid syndrome
Brain disease Hyperhomocysteinemia Intermediate coronary syndrome Liver disease
Kidney disease Coronary heart disease Placental abruption Cancer
Respiratory failure Mitral valve stenosis Diabetes mellitus Lupus erythematosus 10/98 Novoseek disease relationships for SERPINC1 gene (see all 98) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| antithrombin iii deficiency |
96.3 |
273 |
12897104 (4), 18926244 (3), 10987006 (3), 8291376 (3) (see all 99) |
| thrombophilia |
93.9 |
219 |
10625206 (3), 9630308 (2), 17107615 (2), 18760065 (2) (see all 99) |
| protein s deficiency |
92.1 |
154 |
15706484 (3), 9746774 (3), 9003158 (2), 11486107 (2) (see all 99) |
| apc resistance |
91.9 |
181 |
16422365 (2), 8834124 (2), 9865798 (2), 10195932 (2) (see all 99) |
| thrombosis |
89.2 |
346 |
12888870 (5), 8148939 (4), 18575842 (4), 9764672 (3) (see all 99) |
| protein c deficiency |
89.1 |
87 |
2363123 (2), 17244921 (2), 12542252 (2), 9158617 (2) (see all 80) |
| disseminated intravascular coagulation |
88.2 |
123 |
8572009 (3), 8813091 (3), 9662467 (2), 9577159 (2) (see all 89) |
| thromboembolism |
86.9 |
128 |
19132194 (4), 19514602 (3), 10515862 (3), 11127851 (2) (see all 94) |
| venous thrombosis |
86.5 |
148 |
1696577 (4), 12542252 (3), 9479609 (3), 12492585 (2) (see all 99) |
| coagulopathy |
82.2 |
53 |
7514043 (3), 1638825 (1), 8419725 (1), 9008760 (1) (see all 45) |
Genetic Association Database (GAD): SERPINC1
Human Genome Epidemiology (HuGE) Navigator: SERPINC1 (20 documents)
Export disorders for SERPINC1 gene to outside databases
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Publications
for SERPINC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for SERPINC1 gene, integrated from 9 sources (see all 2877):
(articles sorted by number of sources associating them with SERPINC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. (PubMed id 12595305)1, 2, 4, 9 Picard V.... Aiach M. (2003)
- Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. (PubMed id 8443391)1, 2, 4, 9 Okajima K.... Takatsuki K. (1993)
- Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine. (PubMed id 2229057)1, 2, 9 Gandrille S.... Clauser E. (1990)
- Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. (PubMed id 7959685)1, 2, 9 Millar D.S.... Cooper D.N. (1994)
- Site-directed mutagenesis of alanine-382 of human antithrombin III. (PubMed id 2013320)1, 2, 9 Austin R.C.... Blachjman M.A. (1991)
- Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. (PubMed id 7832187)1, 2, 9 Okajima K.... Takatsuki K. (1995)
- Biological implications of a 3 A structure of dimeric antithrombin. (PubMed id 8087553)1, 2, 9 Carrell R.W.... Wardell M.R. (1994)
- Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. (PubMed id 16908819)1, 2, 9 Kuhli C.... Hattenbach L.-O. (2006)
- Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. (PubMed id 12353073)1, 2, 9 Mushunje A.... Carrell R.W. (2002)
- Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity. (PubMed id 15853774)1, 2, 9 Szabo R....Bugge T.H. (2005)
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External Searches for SERPINC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
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Genome Databases showing SERPINC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing SERPINC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SERPINC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SERPINC1 | Pharmacogenomics, SNPs, Pathways | | 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.ncbi.nlm.nih.gov/sites/GeneTests/lab/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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About This Section
| Patent Information for SERPINC1 gene:
Search GeneIP for patents involving SERPINC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SERPINC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | OriGene Antibodies for SERPINC1 | | OriGene shRNA RFP for SERPINC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SERPINC1 | | | OriGene Protein Over-expression Lysate for SERPINC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SERPINC1 | | OriGene 3'-UTR Clone for SERPINC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for SERPINC1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SERPINC1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SERPINC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPINC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINC1 |
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|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINC1 |
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