ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons.

provided by RefSeq

Biological Domains

Apoptosis, Autophagy, Cell Cycle, DNA Repair, Endolysosome, Epigenetic, Immune Response, Lipid Metabolism, Metal Binding and Homeostasis, Mitochondrial Metabolism, Oxidative Stress, Proteostasis, Structural Stabilization, Synapse, Vasculature

Pharos Class

Tclin

Also known as

ENSG00000097007 (Ensembl Release 115)

UNIPROTKB P00519

ABL, BCR-ABL, CHDSKM, JTK7, bcr/abl, c-ABL, c-ABL1, p150, v-abl

Summary of Evidence

This tab shows an overview of how the selected gene is associated with AD.

  • Genetic Association with LOAD

    Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification Committee
    False

  • Brain eQTL

    Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium study
    True

  • RNA Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Protein Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    False

  • Nominated Target

    Indicates whether or not this gene has been submitted as a nominated target to Agora.
    False

AD Risk Scores

About AD Risk Scores

The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.

AD Risk Scores for ABL1

The TRS for ABL1, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for ABL1 are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for ABL1.

Biological Domain Classification

About Biological Domains

A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.

Biological Domains for ABL1

Select a biological domain on the left to see the list of GO terms that link ABL1 to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of ABL1's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms ABL1 is annotated with.