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Gene Review

SH3BGR  -  SH3 domain binding glutamate-rich protein

Homo sapiens

Synonyms: 21-GARP, 21-glutamic acid-rich protein, SH3 domain-binding glutamic acid-rich protein, SH3BGR protein
 
 
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Disease relevance of SH3BGR

 

High impact information on SH3BGR

 

Biological context of SH3BGR

  • SH3BGR encodes a novel protein that is characterized by the presence of a proline-rich region containing the consensus sequence for a SH3-binding domain and by an acidic carboxyl-terminal region containing a glutamic acid-rich domain predicted to assume a coiled coil [6].
  • Sequencing of the SH3BGR promoter region has allowed the identification of several potential regulatory elements of this candidate gene for the congenital heart disease and other potential DS features [3].
 

Anatomical context of SH3BGR

  • Using direct cDNA selection we have identified a new gene, SH3BGR, that maps to 21q22.3, proximal to HMG14, and is differentially expressed in heart and skeletal muscle [6].
 

Other interactions of SH3BGR

References

  1. The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily. Mazzocco, M., Maffei, M., Egeo, A., Vergano, A., Arrigo, P., Di Lisi, R., Ghiotto, F., Scartezzini, P. Gene (2002) [Pubmed]
  2. A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli. Mazzocco, M., Arrigo, P., Egeo, A., Maffei, M., Vergano, A., Di Lisi, R., Ghiotto, F., Ciccone, E., Cinti, R., Ravazzolo, R., Scartezzini, P. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  3. High-resolution physical map and identification of potentially regulatory sequences of the human SH3BGR located in the Down syndrome chromosomal region. Vidal-Taboada, J.M., Bergoñon, S., Scartezzini, P., Egeo, A., Nizetic, D., Oliva, R. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  4. The suppression of SH3BGRL is important for v-Rel-mediated transformation. Majid, S.M., Liss, A.S., You, M., Bose, H.R. Oncogene (2006) [Pubmed]
  5. Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region. Sandri, C., Di Lisi, R., Picard, A., Argentini, C., Calabria, E., Myklak, K., Scartezzini, P., Schiaffino, S. Hum. Genet. (2004) [Pubmed]
  6. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. Scartezzini, P., Egeo, A., Colella, S., Fumagalli, P., Arrigo, P., Nizetic, D., Taramelli, R., Rasore-Quartino, A. Hum. Genet. (1997) [Pubmed]
 
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