Primary Identifier | MGI:1197010 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 22218 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme binding activity; potassium channel regulator activity; and protein tag activity. Involved in several processes, including positive regulation of ATPase-coupled calcium transmembrane transporter activity; regulation of cardiac muscle cell contraction; and regulation of protein stability. Acts upstream of or within several processes, including PML body organization; protein localization to nuclear pore; and protein sumoylation. Located in XY body and nuclear body. Is active in glutamatergic synapse; postsynaptic cytosol; and presynaptic cytosol. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; eye; and genitourinary system. Human ortholog(s) of this gene implicated in orofacial cleft 10. Orthologous to human SUMO1 (small ubiquitin like modifier 1). PHENOTYPE: Knockout mice are viable with no testis or palate defects. Homozygotes for one gene-trap allele are viable and overtly normal, although MEFs have fewer PML nuclear bodies. Closer analysis of mice derived from another gene-trap line verified normal viability and palatogenesis in heterozygotes. [provided by MGI curators] |