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Description for Protein SBDS

Shwachman-Bodian-Diamond syndrome
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(platelet: 4; undefined: 1)
Summary:
This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
SDS; LOC51119; FLJ10917; SWDS; CGI97
Approved Symbol:
SBDS
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 5
Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Shwachman-diamond syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07393 Entrez Gene ID: 51119 OMIM ID: 607444 Swissprot Accession: Q9Y3A5;