SH3GL1

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

SH3-domain GRB2-like 1

Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

Biological Process central nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process synaptic vesicle uncoatingManual Assertion Based On ExperimentIBA:GO_Central

Cytoplasm
Early endosome membrane
Cell projection, podosome
Associated with postsynaptic endosomes in hippocampal neurons.

In some cases of acute leukemia, a translocation results in the formation of a KMT2A/MLL1-EEN fusion gene.