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SERPINC1 (serpin family C member 1)

Identity

Alias (NCBI)AT3
AT3D
ATIII
ATIII-R2
ATIII-T1
ATIII-T2
THPH7
HGNC (Hugo) SERPINC1
HGNC Alias symbATIII
MGC22579
HGNC Alias nameantithrombin III
 signal peptide antithrombin part 1
 coding sequence signal peptide antithrombin part 1
 antithrombin (aa 375-432)
HGNC Previous nameAT3
HGNC Previous nameserine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
 serpin peptidase inhibitor, clade C (antithrombin), member 1
LocusID (NCBI) 462
Atlas_Id 45637
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 173903519 and ends at 173917327 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SULT2A1 (19q13.33) / SERPINC1 (1q25.1)

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
LRG (Locus Reference Genomic)LRG_577
Cards
Entrez_Gene (NCBI)SERPINC1    serpin family C member 1
AliasesAT3; AT3D; ATIII; ATIII-R2; 
ATIII-T1; ATIII-T2; THPH7
GeneCards (Weizmann)SERPINC1
Ensembl hg19 (Hinxton)ENSG00000117601 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117601 [Gene_View]  ENSG00000117601 [Sequence]  chr1:173903519-173917327 [Contig_View]  SERPINC1 [Vega]
ICGC DataPortalENSG00000117601
TCGA cBioPortalSERPINC1
AceView (NCBI)SERPINC1
Genatlas (Paris)SERPINC1
SOURCE (Princeton)SERPINC1
Genetics Home Reference (NIH)SERPINC1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINC1  -     chr1:173903519-173917327 -  1q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINC1  -     1q25.1   [Description]    (hg19-Feb_2009)
GoldenPathSERPINC1 - 1q25.1 [CytoView hg19]  SERPINC1 - 1q25.1 [CytoView hg38]
ImmunoBaseENSG00000117601
Genome Data Viewer NCBISERPINC1 [Mapview hg19]  
OMIM107300   613118   
Gene and transcription
Genbank (Entrez)AF130100 AK312654 BC022309 D29832 H62671
RefSeq transcript (Entrez)NM_000488 NM_001365052 NM_001386302 NM_001386303 NM_001386304 NM_001386305 NM_001386306
Consensus coding sequences : CCDS (NCBI)SERPINC1
Gene ExpressionSERPINC1 [ NCBI-GEO ]   SERPINC1 [ EBI - ARRAY_EXPRESS ]   SERPINC1 [ SEEK ]   SERPINC1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINC1 [ Firebrowse - Broad ]
GenevisibleExpression of SERPINC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)462
GTEX Portal (Tissue expression)SERPINC1
Human Protein AtlasENSG00000117601-SERPINC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01008   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01008  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01008
PhosPhoSitePlusP01008
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Antithrombin_domain    AT-III    Serpin_CS    Serpin_dom    Serpin_fam    Serpin_sf    Serpin_sf_1    Serpin_sf_2   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPINC1
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   
PDB Europe1ANT    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   
Structural Biology KnowledgeBase1ANT    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   
SCOP (Structural Classification of Proteins)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   
CATH (Classification of proteins structures)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   
SuperfamilyP01008
AlphaFold pdb e-kbP01008   
Human Protein Atlas [tissue]ENSG00000117601-SERPINC1 [tissue]
HPRD00122
Protein Interaction databases
DIP (DOE-UCLA)P01008
IntAct (EBI)P01008
BioGRIDSERPINC1
STRING (EMBL)SERPINC1
ZODIACSERPINC1
Ontologies - Pathways
QuickGOP01008
Ontology : AmiGOprotease binding  acute inflammatory response to antigenic stimulus  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  extracellular space  extracellular space  endoplasmic reticulum lumen  plasma membrane  response to nutrient  lactation  blood coagulation  heparin binding  negative regulation of endopeptidase activity  identical protein binding  post-translational protein modification  cellular protein metabolic process  collagen-containing extracellular matrix  extracellular exosome  blood microparticle  regulation of blood coagulation, intrinsic pathway  
Ontology : EGO-EBIprotease binding  acute inflammatory response to antigenic stimulus  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  extracellular space  extracellular space  endoplasmic reticulum lumen  plasma membrane  response to nutrient  lactation  blood coagulation  heparin binding  negative regulation of endopeptidase activity  identical protein binding  post-translational protein modification  cellular protein metabolic process  collagen-containing extracellular matrix  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   
NDEx NetworkSERPINC1
Atlas of Cancer Signalling NetworkSERPINC1
Wikipedia pathwaysSERPINC1
Orthology - Evolution
OrthoDB462
GeneTree (enSembl)ENSG00000117601
Phylogenetic Trees/Animal Genes : TreeFamSERPINC1
Homologs : HomoloGeneSERPINC1
Homology/Alignments : Family Browser (UCSC)SERPINC1
Gene fusions - Rearrangements
Fusion : QuiverSERPINC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPINC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINC1
dbVarSERPINC1
ClinVarSERPINC1
MonarchSERPINC1
1000_GenomesSERPINC1 
Exome Variant ServerSERPINC1
GNOMAD BrowserENSG00000117601
Varsome BrowserSERPINC1
ACMGSERPINC1 variants
VarityP01008
Genomic Variants (DGV)SERPINC1 [DGVbeta]
DECIPHERSERPINC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPINC1 
Mutations
ICGC Data PortalSERPINC1 
TCGA Data PortalSERPINC1 
Broad Tumor PortalSERPINC1
OASIS PortalSERPINC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSERPINC1
Mutations and Diseases : HGMDSERPINC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSERPINC1
DgiDB (Drug Gene Interaction Database)SERPINC1
DoCM (Curated mutations)SERPINC1
CIViC (Clinical Interpretations of Variants in Cancer)SERPINC1
Cancer3DSERPINC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107300    613118   
Orphanet3590   
DisGeNETSERPINC1
MedgenSERPINC1
Genetic Testing Registry SERPINC1
NextProtP01008 [Medical]
GENETestsSERPINC1
Target ValidationSERPINC1
Huge Navigator SERPINC1 [HugePedia]
ClinGenSERPINC1
Clinical trials, drugs, therapy
MyCancerGenomeSERPINC1
Protein Interactions : CTDSERPINC1
Pharm GKB GenePA35026
PharosP01008
Clinical trialSERPINC1
Miscellaneous
canSAR (ICR)SERPINC1
HarmonizomeSERPINC1
DataMed IndexSERPINC1
Probes
Litterature
PubMed264 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSERPINC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:30:42 CEST 2021

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