ENSG00000117601


Homo sapiens

Features
Gene ID: ENSG00000117601
  
Biological name :SERPINC1
  
Synonyms : P01008 / SERPINC1 / serpin family C member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q25.1
Gene start: 173903804
Gene end: 173917378
  
Corresponding Affymetrix probe sets: 1554491_a_at (Human Genome U133 Plus 2.0 Array)   210049_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000478688
Ensembl peptide - ENSP00000356671
NCBI entrez gene - 462     See in Manteia.
OMIM - 107300
RefSeq - XM_005245198
RefSeq - NM_000488
RefSeq Peptide - NP_000479
swissprot - P01008
swissprot - Q8TCE1
swissprot - A0A024R944
Ensembl - ENSG00000117601
  
Related genetic diseases (OMIM): 613118 - Thrombophilia due to antithrombin III deficiency, 613118
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 serpinc1ENSDARG00000042684Danio rerio
 SERPINC1ENSGALG00000004591Gallus gallus
 P32261ENSMUSG00000026715Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96P63 / SERPINB12 / serpin family B member 12ENSG0000016663431
O75635 / SERPINB7 / serpin family B member 7ENSG0000016639628
Q99574 / SERPINI1 / serpin family I member 1ENSG0000016353627
O75830 / SERPINI2 / serpin family I member 2ENSG0000011420427
Q96P15 / SERPINB11 / serpin family B member 11 (gene/pseudogene)ENSG0000020607225
P07093 / SERPINE2 / serpin family E member 2ENSG0000013591925
A8MV23 / SERPINE3 / serpin family E member 3ENSG0000025330924
P05121 / SERPINE1 / serpin family E member 1ENSG0000010636623
P50454 / SERPINH1 / serpin family H member 1ENSG0000014925719


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR015555  Antithrombin-III
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR033829  Antithrombin serpin domain
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002438 acute inflammatory response to antigenic stimulus IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0007595 lactation IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0030193 regulation of blood coagulation IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:2000266 regulation of blood coagulation, intrinsic pathway IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001976 Antithrombin III deficiency 
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 HP:0002204 Pulmonary embolism 
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 HP:0002625 Deep venous thrombosis 
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 HP:0004419 Recurrent thrombophlebitis 
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 HP:0005305 Cerebral venous thrombosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / complex / reaction
 ENSG00000117601 P01008 / SERPINC1 / serpin family C member 1  / complex






 

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