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Description for Protein BBS7

Bardet-Biedl syndrome 7
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    BBS2L1; BBS2 like 1; FLJ10715; BBS7 gene; BBS2 like protein 1; Bardet-Biedl syndrome 7 protein isoform a; Bardet-Biedl syndrome 7 protein isoform b
    Approved Symbol:
    BBS7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Bardet-Biedl syndrome 7(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07399 Entrez Gene ID: 55212 OMIM ID: 607590 Swissprot Accession: Q8IWZ6;