ENSG00000099937


Homo sapiens

Features
Gene ID: ENSG00000099937
  
Biological name :SERPIND1
  
Synonyms : P05546 / SERPIND1 / serpin family D member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q11.21
Gene start: 20773879
Gene end: 20787720
  
Corresponding Affymetrix probe sets: 205576_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000384050
Ensembl peptide - ENSP00000215727
NCBI entrez gene - 3053     See in Manteia.
OMIM - 142360
RefSeq - NM_000185
RefSeq Peptide - NP_000176
swissprot - P05546
Ensembl - ENSG00000099937
  
Related genetic diseases (OMIM): 612356 - Thrombophilia due to heparin cofactor II deficiency, 612356
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
 serpind1ENSDARG00000021208Danio rerio
 SERPIND1ENSGALG00000039239Gallus gallus
 P49182ENSMUSG00000022766Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q86WD7 / SERPINA9 / serpin family A member 9ENSG0000017005427
P01011 / SERPINA3 / serpin family A member 3ENSG0000019613626
Q9UK55 / SERPINA10 / serpin family A member 10ENSG0000014009325
P08185 / SERPINA6 / serpin family A member 6ENSG0000017009924
P29622 / SERPINA4 / serpin family A member 4ENSG0000010066524
P01009 / SERPINA1 / serpin family A member 1ENSG0000019724924
P05154 / SERPINA5 / serpin family A member 5ENSG0000018848823
Q86U17 / SERPINA11 / serpin family A member 11ENSG0000018691023
Q8IW75 / SERPINA12 / serpin family A member 12ENSG0000016595322
P05543 / SERPINA7 / serpin family A member 7ENSG0000012356122
SERPINA2 / serpin family A member 2 (gene/pseudogene)ENSG0000025859714


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR033831  Heparin cofactor II
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006935 chemotaxis 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:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004866 endopeptidase inhibitor activity TAS
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IBA
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


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:0004761 Post-angioplasty coronary artery restenosis 
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 HP:0004850 recurrent deep vein thrombosis 
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 HP:0005521 Disseminated intravascular coagulation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / complex / reaction






 

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