| Primary Identifier | MGI:1099804 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 215114 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including AP-2 adaptor complex binding activity; phosphatidylinositol phosphate binding activity; and protein dimerization activity. Involved in endocytosis; presynaptic modulation of chemical synaptic transmission; and regulation of receptor-mediated endocytosis. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including brain; heart; and testis. Orthologous to human HIP1 (huntingtin interacting protein 1). PHENOTYPE: Homozygous mutants may exhibit axial skeleton defects, hematopotietic abnormalities, and testicular degeneration with increased apoptosis of postmeiotic spermatids. One line showed microphthalmia and cataracts, whereas others did not. [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
