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Description for Protein ALMS1

Alstrom syndrome 1
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined. (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:
    Alstrom syndrome gene; KIAA0328
    Approved Symbol:
    ALMS1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 14
    Human (de-) phosphorylation sites: 14; 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:

  • Alstrom syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06023 Entrez Gene ID: 7840 OMIM ID: 606844 Swissprot Accession: Q8TCU4;