Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Btk. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [provided by RefSeq, Nov 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Btk
  • participates in the following biological processes:
    • peptidyl-tyrosine phosphorylation ^[3]
    • protein phosphorylation ^[2]
  • performs the following molecular functions:
    • protein tyrosine kinase activity ^{[3, 4]}
  • is located in the following cellular components:
    • cytoplasm ^[4]
    • cytoplasmic vesicle ^[5]
    • nucleus ^[4]
• The gene product of Btk has been shown to bind to the gene products of Arid3a, Cd40, Grb2, Myd88, Ticam1. ^{[6, 8, 9]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Btk
  • participates in the following biological processes:
    • cell maturation ^[7]
    • I-kappaB kinase/NF-kappaB cascade ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Btk:
  • participates in the following biological processes:
    • histamine secretion by mast cell
    • protein autophosphorylation
    • response to biotic stimulus
    • response to organic substance
    • response to reactive oxygen species
  • performs the following molecular functions:
    • identical protein binding
    • phosphatidylinositol-3,4,5-trisphosphate binding
    • protein tyrosine kinase activity
  • is located in the following cellular components:
    • cytosol
    • intracellular membrane-bounded organelle
    • membrane raft
    • perinuclear region of cytoplasm
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Btk encodes a protein or proteins that contain the following InterPro domains: Pleckstrin homology domain, Pleckstrin homology-like domain, Protein kinase, ATP binding site, Protein kinase, catalytic domain, Protein kinase-like domain, Serine-threonine/tyrosine-protein kinase catalytic domain, SH2 domain, Src homology-3 domain, Tyrosine-protein kinase, active site, Tyrosine-protein kinase, catalytic domain, Zinc finger, Btk motif, indicating that the gene product:
  • participates in the following biological processes:
    • intracellular signal transduction
    • protein phosphorylation
  • performs the following molecular functions:
    • ATP binding
    • phospholipid binding
    • protein kinase activity
    • transferase activity, transferring phosphorus-containing groups

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Btk indicates that it:
  • participates in the following biological processes:
    • apoptotic process
    • innate immune response
    • phosphorylation
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • ATP binding
    • kinase activity
    • lipid binding
    • metal ion binding
    • nucleotide binding
    • transferase activity
  • is located in the following cellular components:
    • membrane
• Btk has been associated with the Enzyme Commission numbers: 2.7.10.2, which implies that the gene product:
  • participates in the following biological processes:
    • protein phosphorylation
  • performs the following molecular functions:
    • non-membrane spanning protein tyrosine kinase activity

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References

1. Antony P et al. (2003) B cell receptor directs the activation of NFAT and NF-kappaB via distinct molecular mechanisms. Exp Cell Res, 291:11-24. (PubMed:14597404)
2. Clayton E et al. (2002) A crucial role for the p110delta subunit of phosphatidylinositol 3-kinase in B cell development and activation. J Exp Med, 196:753-63. (PubMed:12235209)
3. Iseki M et al. (2000) Molecular cloning of the mouse APS as a member of the Lnk family adaptor proteins. Biochem Biophys Res Commun, 272:45-54. (PubMed:10872802)
4. Kikuchi Y et al. (2000) Identification and characterization of a molecule, BAM11, that associates with the pleckstrin homology domain of mouse Btk Int Immunol, 12:1397-408. (PubMed:11007757)
5. Kraemer FB et al. (2004) Hormone-sensitive lipase is required for high-density lipoprotein cholesteryl ester-supported adrenal steroidogenesis. Mol Endocrinol, 18:549-57. (PubMed:14657254)
6. Liu X et al. (2011) Intracellular MHC class II molecules promote TLR-triggered innate immune responses by maintaining activation of the kinase Btk. Nat Immunol, 12:416-24. (PubMed:21441935)
7. Middendorp S et al. (2004) Cellular maturation defects in Bruton's tyrosine kinase-deficient immature B cells are amplified by premature B cell receptor expression and reduced by receptor editing. J Immunol, 172:1371-9. (PubMed:14734712)
8. Nixon JC et al. (2004) Mutations in the DNA-binding domain of the transcription factor Bright act as dominant negative proteins and interfere with immunoglobulin transactivation. J Biol Chem, 279:52465-72. (PubMed:15456761)
9. Papin J et al. (2004) Bioinformatics and cellular signaling. Curr Opin Biotechnol, 15:78-81. (PubMed:15102471)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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