ENSG00000164344


Homo sapiens

Features
Gene ID: ENSG00000164344
  
Biological name :KLKB1
  
Synonyms : kallikrein B1 / KLKB1 / P03952
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q35.2
Gene start: 186208979
Gene end: 186258471
  
Corresponding Affymetrix probe sets: 206541_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426629
Ensembl peptide - ENSP00000264690
Ensembl peptide - ENSP00000412366
Ensembl peptide - ENSP00000415563
Ensembl peptide - ENSP00000424469
NCBI entrez gene - 3818     See in Manteia.
OMIM - 229000
RefSeq - XM_017008184
RefSeq - NM_000892
RefSeq - NM_001318394
RefSeq - NM_001318396
RefSeq - XM_011531930
RefSeq - XM_017008181
RefSeq - XM_017008182
RefSeq - XM_017008183
RefSeq Peptide - NP_000883
RefSeq Peptide - NP_001305325
RefSeq Peptide - NP_001305323
swissprot - H0YAC1
swissprot - C9J075
swissprot - P03952
swissprot - E9PBC5
swissprot - C9JCT1
Ensembl - ENSG00000164344
  
Related genetic diseases (OMIM): 612423 - Fletcher factor (prekallikrein) deficiency, 612423
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
 ENSGALG00000013571Gallus gallus
 Klkb1ENSMUSG00000109764Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
F11 / P03951 / coagulation factor XIENSG0000008892657
CORIN / Q9Y5Q5 / corin, serine peptidaseENSG0000014524423
Q8IU80 / TMPRSS6 / transmembrane serine protease 6ENSG0000018704523
P98073 / TMPRSS15 / transmembrane serine protease 15ENSG0000015464622
ST14 / Q9Y5Y6 / suppression of tumorigenicity 14ENSG0000014941822
Q7RTY8 / TMPRSS7 / transmembrane serine protease 7ENSG0000017604022
Q9BYE2 / TMPRSS13 / transmembrane serine protease 13ENSG0000013774721
P57727 / TMPRSS3 / transmembrane serine protease 3ENSG0000016018320
HPN / hepsin / P05981ENSG0000010570720
O15393 / TMPRSS2 / transmembrane serine protease 2ENSG0000018401220
Q9H3S3 / TMPRSS5 / transmembrane serine protease 5ENSG0000016668220
Q7Z410 / TMPRSS9 / transmembrane serine protease 9ENSG0000017829719
Q9NRS4 / TMPRSS4 / transmembrane serine protease 4ENSG0000013764819


Protein motifs (from Interpro)
Interpro ID Name
 IPR000177  Apple domain
 IPR001128  Cytochrome P450
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR003609  PAN/Apple domain
 IPR009003  Peptidase S1, PA clan
 IPR017972  Cytochrome P450, conserved site
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR033116  Serine proteases, trypsin family, serine active site
 IPR034813  Plasma kallikrein
 IPR036396  Cytochrome P450 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002542 Factor XII activation TAS
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007597 blood coagulation, intrinsic pathway IEA
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0022617 extracellular matrix disassembly TAS
 biological_processGO:0031638 zymogen activation TAS
 biological_processGO:0031639 plasminogen activation IDA
 biological_processGO:0042730 fibrinolysis IEA
 biological_processGO:0051919 positive regulation of fibrinolysis IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Intrinsic Pathway of Fibrin Clot Formation
Activation of Matrix Metalloproteinases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0003645 Prolonged partial thromboplastin time 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108561 C1QBP / Q07021 / complement C1q binding protein  / reaction / complex
 ENSG00000149968 MMP3 / P08254 / matrix metallopeptidase 3  / reaction
 ENSG00000131187 F12 / P00748 / coagulation factor XII  / reaction
 ENSG00000164344 KLKB1 / P03952 / kallikrein B1  / complex
 ENSG00000113889 KNG1 / P01042 / kininogen 1  / complex / reaction
 ENSG00000137509 PRCP / P42785 / prolylcarboxypeptidase  / reaction
 ENSG00000149131 P05155 / SERPING1 / serpin family G member 1  / reaction / complex
 ENSG00000175899 A2M / P01023 / alpha-2-macroglobulin  / reaction / complex






 

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