This web page was produced as an assignment for Gen677 at UW-Madison Spring 2010

Ontology

The goal of gene ontology (GO) is used to unify and collaberate terms to describe the functions and products of proteins transcribed by proteins. The three categories of GO include the biological process, cellular components, and molecular function. (2)  The biological process refers to the biological objective the protein performs in the organism and generally consist of multiple molecular functions.  The cellular components consist of where in the cell the protein performs its molecular action.  The molecular function is the biochemical role the protein has.   

The gene ontology for the ABL1 gene was found using AmiGO (1)AmiGO (1) found 14 biological processes, 8 cellular
components, and 13 molecular functions for the ABL1 gene.  They are as followed:

Biological Process
  • Actin cytoskeleton organization
  • Axon guidance
  • Blood coagulation
  • Cell adhesion
  • DNA damage response, signal transduction resulting in induction of apoptosis
  • Mismatch repair
  • Muscle cell differentiation
  • Negative regulation of protein serine/threonine kinase activity
  • Peptidyl-tyrosine phosphorylation
  • Positive regulation of muscle cell differentation
  • Positive regulation of oxidoreductase activity
  • Protein modification process
  • Regulation of transcritption involved in S phase of mitotic cell cycle
  • Regulation of transcription, DNA-dependent

Cellular Component
  • Cytoplasm
  • Cytoskeleton
  • Cytosol
  • Membrane
  • Nuclear membrane
  • Nucleolus
  • Nucleus
  • Perinuclear region of cytoplasm

Molecular Function
  • ATP binding
  • DNA binding
  • Magnesium ion binding
  • Manganese ion binding
  • Mitogen-activated protein kinase binding
  • Non-membrane spanning protein tyrosine kinase activity
  • Nucleotide binding
  • Proline-rich region binding
  • Protein binding
  • Protein C-terminus binding
  • Protein tyrosine kinase activity
  • SH3 domain binding
  • Transferase activity

Analysis

CML is a blood stem cell disorder where myeloid stem cells differentiate in an unregulated manner resulting in an abnormal amount of granulocytes.  This is believed to be caused by the tyrosine kinase activity of the ABL1 portion of the bcr-abl fusion gene.  The BCR portion of the fusion gene acts as a promoter of the ABL1 portion and replaces the SH3 domain, the regulator of the tyrosine kinase activity.  Other proteins attach to the tyrosine kinase domain to be phosphorylated and promote the cell cycle processes including cell growith and cell differentiation.

References

1.  AmiGO http://amigo.geneontology.org/cgi-bin/amigo/go.cgi
2.  Gene Ontology Consortium. (2000). Gene ontology: tool for the unification of biology.  Nature Genetics, 25, 25-29.

Sara Schroeder 
[email protected]
last updated May 13, 2011

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