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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
Atlas_Id 45637
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 hg19 (Hinxton)ENSG00000117601 [Gene_View]  chr1:173872942-173886516 [Contig_View]  SERPINC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000117601 [Gene_View]  chr1:173872942-173886516 [Contig_View]  SERPINC1 [Vega]
ICGC DataPortalENSG00000117601
TCGA cBioPortalSERPINC1
AceView (NCBI)SERPINC1
Genatlas (Paris)SERPINC1
WikiGenes462
SOURCE (Princeton)SERPINC1
Genomic and cartography
GoldenPath hg19 (UCSC)SERPINC1  -     chr1:173872942-173886516 -  1q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SERPINC1  -     1q25.1   [Description]    (hg38-Dec_2013)
EnsemblSERPINC1 - 1q25.1 [CytoView hg19]  SERPINC1 - 1q25.1 [CytoView hg38]
Mapping of homologs : NCBISERPINC1 [Mapview hg19]  SERPINC1 [Mapview hg38]
OMIM107300   613118   
Gene and transcription
Genbank (Entrez)AF130100 AK312654 BC022309 D29832 H62671
RefSeq transcript (Entrez)NM_000488
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_012462 NT_004487 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01008 (Uniprot)
NextProtP01008  [Medical]  [Publications]
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
IntegromeDBSERPINC1
STRING (EMBL)SERPINC1
Ontologies - Pathways
QuickGOP01008
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  negative regulation of inflammatory response  extracellular 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  negative regulation of inflammatory response  extracellular 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
DoCM (Curated mutations)SERPINC1
Wikipedia pathwaysSERPINC1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerSERPINC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINC1
dbVarSERPINC1
ClinVarSERPINC1
1000_GenomesSERPINC1 
Exome Variant ServerSERPINC1
SNP (GeneSNP Utah)SERPINC1
SNP : HGBaseSERPINC1
Genetic variants : HAPMAPSERPINC1
Genomic Variants (DGV)SERPINC1 [DGVbeta]
Mutations
ICGC Data PortalSERPINC1 
TCGA Data PortalSERPINC1 
Tumor PortalSERPINC1
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:173872942-173886516
CONAN: Copy Number AnalysisSERPINC1 
Mutations and Diseases : HGMDSERPINC1
OMIM107300    613118   
MedgenSERPINC1
NextProtP01008 [Medical]
GENETestsSERPINC1
Disease Genetic AssociationSERPINC1
Huge Navigator SERPINC1 [HugePedia]  SERPINC1 [HugeCancerGEM]
snp3D : Map Gene to Disease462
DGIdb (Drug Gene Interaction db)SERPINC1
BioCentury BCIQSERPINC1
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
PubMed193 Pubmed reference(s) in Entrez
CoreMineSERPINC1
GoPubMedSERPINC1
iHOPSERPINC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 12:16:08 CEST 2015

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