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SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1)

Identity

Other namesAT3
AT3D
ATIII
THPH7
HGNC (Hugo) SERPINC1
LocusID (NCBI) 462
Location 1q25.1
Location_base_pair Starts at 173872942 and ends at 173886516 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SERPINC1   775
Cards
Entrez_Gene (NCBI)SERPINC1  462  serpin peptidase inhibitor, clade C (antithrombin), member 1
GeneCards (Weizmann)SERPINC1
Ensembl (Hinxton)ENSG00000117601 [Gene_View]  chr1:173872942-173886516 [Contig_View]  SERPINC1 [Vega]
ICGC DataPortalENSG00000117601
AceView (NCBI)SERPINC1
Genatlas (Paris)SERPINC1
WikiGenes462
SOURCE (Princeton)NM_000488
Genomic and cartography
GoldenPath (UCSC)SERPINC1  -  1q25.1   chr1:173872942-173886516 -  1q25.1   [Description]    (hg19-Feb_2009)
EnsemblSERPINC1 - 1q25.1 [CytoView]
Mapping of homologs : NCBISERPINC1 [Mapview]
OMIM107300   613118   
Gene and transcription
Genbank (Entrez)AF130100 AK312654 BC022309 D29832 H62671
RefSeq transcript (Entrez)NM_000488
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_012462 NT_004487 NW_001838533 NW_004929293
Consensus coding sequences : CCDS (NCBI)SERPINC1
Cluster EST : UnigeneHs.75599 [ NCBI ]
CGAP (NCI)Hs.75599
Alternative Splicing : Fast-db (Paris)GSHG0002750
Alternative Splicing GalleryENSG00000117601
Gene ExpressionSERPINC1 [ NCBI-GEO ]     SERPINC1 [ SEEK ]   SERPINC1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01008 (Uniprot)
NextProtP01008  [Medical]
With graphics : InterProP01008
Splice isoforms : SwissVarP01008 (Swissvar)
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)AT-III    Serpin_CS    Serpin_dom    Serpin_fam   
Related proteins : CluSTrP01008
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
DMDM Disease mutations462
Blocks (Seattle)P01008
PDB (SRS)1ANT    1ATH    1AZX    1BR8    1DZG    1DZH    1E03    1E04    1E05    1JVQ    1LK6    1NQ9    1OYH    1R1L    1SR5    1T1F    1TB6    2ANT    2B4X    2B5T    2BEH    2GD4    2HIJ    2ZNH    3EVJ    3KCG    4EB1   
PDB (PDBSum)1ANT    1ATH    1AZX    1BR8    1DZG    1DZH    1E03    1E04    1E05    1JVQ    1LK6    1NQ9    1OYH    1R1L    1SR5    1T1F    1TB6    2ANT    2B4X    2B5T    2BEH    2GD4    2HIJ    2ZNH    3EVJ    3KCG    4EB1   
PDB (IMB)1ANT    1ATH    1AZX    1BR8    1DZG    1DZH    1E03    1E04    1E05    1JVQ    1LK6    1NQ9    1OYH    1R1L    1SR5    1T1F    1TB6    2ANT    2B4X    2B5T    2BEH    2GD4    2HIJ    2ZNH    3EVJ    3KCG    4EB1   
PDB (RSDB)1ANT    1ATH    1AZX    1BR8    1DZG    1DZH    1E03    1E04    1E05    1JVQ    1LK6    1NQ9    1OYH    1R1L    1SR5    1T1F    1TB6    2ANT    2B4X    2B5T    2BEH    2GD4    2HIJ    2ZNH    3EVJ    3KCG    4EB1   
Human Protein AtlasENSG00000117601
Peptide AtlasP01008
HPRD00122
IPIIPI00032179   IPI00844156   
Protein Interaction databases
DIP (DOE-UCLA)P01008
IntAct (EBI)P01008
FunCoupENSG00000117601
BioGRIDSERPINC1
InParanoidP01008
Interologous Interaction database P01008
IntegromeDBSERPINC1
STRING (EMBL)SERPINC1
Ontologies - Pathways
Ontology : AmiGOprotease binding  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  plasma membrane  response to nutrient  blood coagulation  heparin binding  negative regulation of endopeptidase activity  regulation of proteolysis  negative regulation of inflammatory response  extracellular vesicular exosome  blood microparticle  regulation of blood coagulation, intrinsic pathway  
Ontology : EGO-EBIprotease binding  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  plasma membrane  response to nutrient  blood coagulation  heparin binding  negative regulation of endopeptidase activity  regulation of proteolysis  negative regulation of inflammatory response  extracellular vesicular exosome  blood microparticle  regulation of blood coagulation, intrinsic pathway  
Pathways : BIOCARTAExtrinsic Prothrombin Activation Pathway [Genes]    Acute Myocardial Infarction [Genes]    Intrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
Protein Interaction DatabaseSERPINC1
Wikipedia pathwaysSERPINC1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SERPINC1
SNP (GeneSNP Utah)SERPINC1
SNP : HGBaseSERPINC1
Genetic variants : HAPMAPSERPINC1
1000_GenomesSERPINC1 
ICGC programENSG00000117601 
CONAN: Copy Number AnalysisSERPINC1 
Somatic Mutations in Cancer : COSMICSERPINC1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Mutations and Diseases : HGMDSERPINC1
OMIM107300    613118   
MedgenSERPINC1
GENETestsSERPINC1
Disease Genetic AssociationSERPINC1
Huge Navigator SERPINC1 [HugePedia]  SERPINC1 [HugeCancerGEM]
Genomic VariantsSERPINC1  SERPINC1 [DGVbeta]
Exome VariantSERPINC1
dbVarSERPINC1
ClinVarSERPINC1
snp3D : Map Gene to Disease462
General knowledge
Homologs : HomoloGeneSERPINC1
Homology/Alignments : Family Browser (UCSC)SERPINC1
Phylogenetic Trees/Animal Genes : TreeFamSERPINC1
Chemical/Protein Interactions : CTD462
Chemical/Pharm GKB GenePA35026
Clinical trialSERPINC1
Cancer Resource (Charite)ENSG00000117601
Other databases
Probes
Litterature
PubMed187 Pubmed reference(s) in Entrez
CoreMineSERPINC1
iHOPSERPINC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:15:47 CEST 2014

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