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Literature summary for 3.4.21.27 extracted from

  • Mitchell, M.J.; Dai, L.; Clarke, J.B.; Bolton-Maggs, P.H.; Savidge, G.F.; Alhaq, A.
    Characterisation of five factor XI mutations (2007), Thromb. Haemost., 97, 884-889.
    View publication on PubMed
Search for more literature for 3.4.21.27

Cloned(Commentary)

Cloned (Comment) Organism
genetic location on chromosome 4q35, stable expression of wild-type and mutant enzymes in BHK-570 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
M102T site-directed mutagenesis,missense mutation identified from large scale screening, the mutant enzyme is not secreted from the transfected cell resulting in a cross-reactive material negative phenotype Homo sapiens
M18I site-directed mutagenesis, missense mutation identified from large scale screening, the mutant enzyme is not secreted from the transfected cell resulting in a cross-reactive material negative phenotype Homo sapiens
P520L site-directed mutagenesis, similar to the wild-ype enzyme Homo sapiens
R378C site-directed mutagenesis, missense mutation identified from large scale screening, the mutant enzyme is normally secreted from the transfected cell, but shows negligible factor IX activation activity Homo sapiens
T575M site-directed mutagenesis, missense mutation identified from large scale screening, the mutant enzyme is normally secreted from the transfected cell, but shows negligible factor IX activation activity Homo sapiens
Y133S site-directed mutagenesis, missense mutation identified from large scale screening, the mutant enzyme is not secreted from the transfected cell resulting in a cross-reactive material negative phenotype Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
extracellular the enzyme is secreted Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
factor IX + H2O Homo sapiens
-
 activated factor IX + ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
proteolytic modification the zymogen FXI is activated by proteolytic cleavage to FXIa Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
plasma
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
factor IX + H2O
-
 Homo sapiens activated factor IX + ?
-
 ?

Synonyms

Synonyms Comment Organism
factor XI
-
 Homo sapiens