[C.elegansII] n2030 : vulvaless, hermaphrodite sex muscles show subtle positioning defect, Soc (suppressor of clr-1),impenetrant Mel (rod-like larval lethal); pleiotropic effects on migration, vulval induction etc. ME0. OA5: strong alleles n1619, n2019; weaker alleles n1781, n2195 (Soc, weak Egl, ME3),n1619, n1779 (synergizes with alleles of unc-71,unc-73, egl-15, egl-17,to give stronger Sem defect). Cloned: encodes predicted SH3-SH2-SH3 protein with 60% identity to human GRB2, functional equivalence. [Clark et al. 1992; Stern et al. 1993; DeVore et al.1995; MT; NH]
sem-5 encodes a Src homology (SH) domain 2 and 3-containing protein, orthologous to human GRB2 (OMIM:108355) and Drosophila Drk; sem-5 functions in multiple signaling pathways during development including those regulating sex myoblast migration, muscle membrane extension, vulval induction, fluid balance, viability, and formation of the male tail; SEM-5 acts downstream of the LET-23 epidermal growth factor receptor to negatively regulate RAS-, MAP-, and IP-3-, mediated signal transduction; a sem-5::yfp promoter fusion is expressed in many cells throughout development, including the hypodermis, intestine, neurons, body wall muscles, and vulval precursor cells.
Enables epidermal growth factor receptor binding activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; male genitalia development; and regulation of vulval development. Predicted to be located in cytoplasm; nucleoplasm; and plasma membrane. Predicted to be part of COP9 signalosome. Expressed in several structures, including P3.p hermaphrodite; P4.p hermaphrodite; P5.p hermaphrodite; P7.p hermaphrodite; and P8.p hermaphrodite. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 114; breast cancer; and reproductive organ cancer (multiple). Is an ortholog of human GRB2 (growth factor receptor bound protein 2).