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Gene Review

SH3GL3  -  SH3-domain GRB2-like 3

Homo sapiens

Synonyms: CNSA3, EEN-B2, Endophilin-3, Endophilin-A3, HsT19371, ...
 
 
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High impact information on SH3GL3

  • SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates [1].
  • Here, we show that the SH3GL3 protein, which is preferentially expressed in brain and testis, selectively interacts with the HD exon 1 protein (HDex1p) containing a glutamine repeat in the pathological range and promotes the formation of insoluble polyglutamine-containing aggregates in vivo [1].
  • The C-terminal SH3 domain in SH3GL3 and the proline-rich region in HDex1p are essential for the interaction [1].
  • Coimmunoprecipitations and immunofluorescence studies revealed that SH3GL3 and HDex1p colocalize in transfected COS cells [1].
  • Three of these transcripts are in-frame and show a peculiar tissue distribution: SH3GL2 is preferentially expressed in the brain, SH3GL3 in brain and testis, and SH3GL1 is ubiquitous [2].
 

Physical interactions of SH3GL3

  • Additionally, an anti-SH3GL3 antibody was also able to coimmunoprecipitate the full-length huntingtin from an HD human brain extract [1].

References

  1. SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates. Sittler, A., Wälter, S., Wedemeyer, N., Hasenbank, R., Scherzinger, E., Eickhoff, H., Bates, G.P., Lehrach, H., Wanker, E.E. Mol. Cell (1998) [Pubmed]
  2. A novel SH3-containing human gene family preferentially expressed in the central nervous system. Giachino, C., Lantelme, E., Lanzetti, L., Saccone, S., Bella Valle, G., Migone, N. Genomics (1997) [Pubmed]
 
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