| Primary Identifier | MGI:700010 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 20405 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including SH3 domain binding activity; beta-1 adrenergic receptor binding activity; and enzyme binding activity. Involved in synaptic vesicle uncoating. Predicted to be located in cytosol. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density, intracellular component. Is expressed in several structures, including central nervous system; chondrocranium; liver; spleen; and testis. Human ortholog(s) of this gene implicated in acute myeloid leukemia and high grade glioma. Orthologous to human SH3GL1 (SH3 domain containing GRB2 like 1, endophilin A2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
