ABL1
Summary: 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, Aug 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:189980 Ensembl IDEnsembl:ENSG00000097007 HGNC IDHGNC:HGNC:76 PHARMGKB IDPA24413 Map Location9q34.12 | |||||
GO terms in ABL1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0000278 | mitotic cell cycle |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | IEA | GO:0001922 | B-1 B cell homeostasis |
| BP | IMP | GO:0001934 | positive regulation of protein phosphorylation |
| BP | IEA | GO:0002322 | B cell proliferation involved in immune response |
| BP | IEA | GO:0002333 | transitional one stage B cell differentiation |
Gene expression in normal tissue: ABL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABL1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | arfpathway | tumor suppressor arf inhibits ribosomal biogenesis |
| biocarta | atmpathway | atm signaling pathway |
| biocarta | g1pathway | cell cycle: g1/s check point |
| biocarta | lis1pathway | lissencephaly gene (lis1) in neuronal migration and development |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-1266738 | Developmental Biology |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABL1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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