Primary Identifier | MGI:1926252 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 67903 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin binding activity; identical protein binding activity; and myosin binding activity. Involved in several processes, including negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of transforming growth factor beta receptor signaling pathway; and presynaptic modulation of chemical synaptic transmission. Acts upstream of or within several processes, including cellular response to interleukin-7; endothelial cell migration; and glutamate secretion. Located in several cellular components, including dendrite; synaptic vesicle; and vesicle membrane. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including future brain; genitourinary system; hemolymphoid system gland; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in oculopharyngodistal myopathy 2. Orthologous to human GIPC1 (GIPC PDZ domain containing family member 1). PHENOTYPE: Mice homozygous for a gene trapped allele display reduced body and heart weight, selective arteriogenesis and arterial endothelial cell defects, and impaired cardiac performance and wound healing. Mice homozygous for a knock-out allele exhibit low molecular weight proteinuria. [provided by MGI curators] |