HGNC Approved Gene Symbol: SHC1P2
Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,226,963-44,230,072 (from NCBI)
The SHC1 gene (600560), located on 1q21, encodes an adaptor protein, SHC, that binds to the receptor for epidermal growth factor (EGFR; 131550) (Pelicci et al., 1992). The protein, which is found in 3 different isoforms with molecular weights of 46, 52, and 66 kD, contains one SH2 domain and a region of homology to collagen. The SH2 domain binds to tyrosine phosphorylated proteins involved in signal transduction pathways, such as EGFR (131550) and TRKA (191315), the receptor for nerve growth factor. SHC is then itself tyrosine phosphorylated at residue 317, either by these receptor tyrosine kinases or other tyrosine kinases. Tyrosine phosphorylated SHC can then bind to other SH2-containing proteins. Yulug et al. (1995) noted that SHC does not appear to possess any enzymatic activity of its own but acts as an adaptor protein by bringing together other signaling proteins. The SHC protein, which is ubiquitously expressed, is probably a key mediator of signal transduction pathways triggered by a large number of growth factors.
Yulug et al. (1995) sequenced the region corresponding to the SHC1 3-prime UTR and that of a new SHC-related gene, SHCL1, and mapped cosmids for both loci by fluorescence in situ hybridization. They found that the SHCL1 gene is located on 17q21-q22.
Pelicci, G., Lanfrancone, L., Grignani, F., McGlade, J., Cavallo, F., Forni, G., Nicoletti, I., Grignani, F., Pawson, T., Pelicci, P. G. A novel transforming protein (SHC) with an SH2 domain is implicated in mitogenic signal transduction. Cell 70: 93-104, 1992. [PubMed: 1623525] [Full Text: https://doi.org/10.1016/0092-8674(92)90536-l]
Yulug, I. G., Egan, S. E., See, C. G., Fisher, E. M. C. A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1. Hum. Genet. 96: 245-248, 1995. [PubMed: 7635484] [Full Text: https://doi.org/10.1007/BF00207393]