Preferred Label : ABL1 wt Allele;
NCIt synonyms : ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase wt Allele; v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene; JTK7; ABL; Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene; CHDSKM; c-ABL1; v-abl; Abelson Strain of Murine Leukemia Virus Gene;
NCIt related terms : c-ABL;
NCIt definition : Human ABL1 wild-type allele is located in the vicinity of 9q34.1 and is approximately
173 kb in length. This allele, which encodes proto-oncogene tyrosine-protein kinase
ABL1 protein, plays a role in cell cycle regulation and ribosomal biogenesis. The
ABL1 gene is translocated in chronic myelogeneous leukemia, acute lymphoblastic leukemia
and, in rare cases, acute myelogenous leukemia.;
Alternative definition : NCI-GLOSS: An enzyme that is involved in many cell processes, such as cell division.
The gene for c-ABL is on chromosome 9. In most patients with chronic myelogenous leukemia
(CML), the part of chromosome 9 with c-ABL has broken off and traded places with part
of chromosome 22 to form the BCR-ABL fusion gene.;
NCIt note : In some types of leukemia, the ABL1 gene forms an oncogenic BCR-ABL fusion gene via
a t(9;22)(q34;q11) translocation. Certain allelic variants of the ABL1 gene detected
in leukemia patients confer resistance to the chemotherapeutic agent imatinib mesylate.
The ABL1 gene undergoes alternative splicing to yield two protein isoforms. Alternatively-spliced
exon 1a encodes a nuclear ABL1 protein isoform that enhances target gene transcription.
Alternatively spliced exon 1b encodes a myristylated, plasma membrane-associated ABL1
protein isoform.;
GenBank Accession Number : NM_007313;
Codes from synonyms : CDR0000561228;
Origin ID : C51061;
UMLS CUI : C1704928;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
