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  Domain Name: SH3
Src Homology 3 domain superfamily. Src Homology 3 (SH3) domains are protein interaction domains that bind proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs. Thus, they are referred to as proline-recognition domains (PRDs). SH3 domains are less selective and show more diverse specificity compared to other PRDs. They have been shown to bind peptide sequences that lack the PxxP motif; examples include the PxxDY motif of Eps8 and the RKxxYxxY sequence in SKAP55. SH3 domain containing proteins play versatile and diverse roles in the cell, including the regulation of enzymes, changing the subcellular localization of signaling pathway components, and mediating the formation of multiprotein complex assemblies, among others. Many members of this superfamily are adaptor proteins that associate with a number of protein partners, facilitating complex formation and signal transduction.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 47
Total Disease Mutations Found: 14
This domain occurred 177 times on human genes (399 proteins).



  CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION
  EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9
  EPISODIC ATAXIA, TYPE 5, INCLUDED
  GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
  MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
  NATIVE AMERICAN MYOPATHY
  SHORT SYNDROME (SHORTS)
  TYPE I


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
peptide ligand binding si










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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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