| Primary Identifier | MGI:1345181 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 23969 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytoskeletal protein binding activity; identical protein binding activity; and phospholipid binding activity. Involved in plasma membrane tubulation; protein localization to membrane; and synaptic vesicle endocytosis. Acts upstream of or within negative regulation of endocytosis. Located in COPI-coated vesicle and ruffle membrane. Is active in photoreceptor ribbon synapse and presynaptic endocytic zone. Is expressed in central nervous system; dorsal root ganglion; nasal cavity epithelium; and retina. Orthologous to human PACSIN1 (protein kinase C and casein kinase substrate in neurons 1). PHENOTYPE: Homozygotes for a gene trapped allele show altered type I interferon responses in plasmacytoid dendritic cells. Homozygotes for a null allele show impaired synaptic vesicle formation, synaptic transmission and neuronal network activity, and develop generalized seizures with tonic-clonic convulsions. [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
