Version: 8.0.0Date: Tue Jan 28 2025
Gene
ABL1
- Species
- Homo sapiens
- Symbol
- ABL1
- Name
- ABL proto-oncogene 1, non-receptor tyrosine kinase
- Synonyms
- Abelson tyrosine-protein kinase 1
- ABL
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA binding activity; metal ion binding activity; and protein kinase binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cell-substrate adhesion; and regulation of protein phosphorylation. Acts upstream of or within several processes, including negative regulation of ubiquitin-protein transferase activity; phospholipase C-inhibiting G protein-coupled receptor signaling pathway; and positive regulation of cytosolic calcium ion concentration. Located in cytosol; nuclear lumen; and perinuclear region of cytoplasm. Part of protein-containing complex. Implicated in gastrointestinal system cancer (multiple) and leukemia (multiple). Biomarker of Parkinson's disease; colorectal cancer; lung non-small cell carcinoma; and stomach cancer.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46037
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr9:130713043...130887675 + (174.63 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.