Primary Identifier | MGI:88279 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 12402 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SH3 domain binding activity; ephrin receptor binding activity; and ubiquitin protein ligase activity. Involved in several processes, including regulation of signal transduction; ubiquitin-dependent endocytosis; and ubiquitin-dependent protein catabolic process. Acts upstream of or within regulation of Rap protein signal transduction. Located in Golgi apparatus and cilium. Part of flotillin complex. Is active in plasma membrane. Is expressed in central nervous system; male reproductive system; and urinary system. Human ortholog(s) of this gene implicated in acute myeloid leukemia; congestive heart failure; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Orthologous to human CBL (Cbl proto-oncogene). PHENOTYPE: Homozygotes for targeted null mutations exhibit increased thymic CD3 and CD4 expression and tyrosine-phosphorylation, lymphoid hyperplasia, and altered splenic hemopoiesis. Females show increased ductal density and branching in mammary fat pads. [provided by MGI curators] |