| Primary Identifier | MGI:2151013 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 111173 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables small GTPase binding activity. A structural constituent of presynaptic active zone. Involved in regulation of calcium-dependent activation of synaptic vesicle fusion; regulation of presynaptic cytosolic calcium ion concentration; and synaptic vesicle priming. Acts upstream of or within retrograde transport, endosome to Golgi. Located in cytoplasm and synapse. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic cytosol. Is expressed in several structures, including genitourinary system; gut gland; oral epithelium; retina; and telencephalon. Orthologous to human ERC1 (ELKS/RAB6-interacting/CAST family member 1). PHENOTYPE: Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. [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
