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Description for Protein ATL1

atlastin GTPase 1
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 4/1)
(membrane: 1; microparticles: 1; phosphoproteome: 1; platelet: 4; undefined: 1)
Summary:
The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    GTP-binding protein 3; Guanine nucleotide-binding protein 3; Brain-specific GTP-binding protein; GBP3; Atlastin isoform a; Atlastin isoform b
    Approved Symbol:
    ATL1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; Platelet phosphorylation sites: 2
    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:

  • Spastic paraplegia 3, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 2
  • Isoform 2 : 2
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 05918 Entrez Gene ID: 51062 OMIM ID: 606439 Swissprot Accession: Q8WXF7; Q69YH7; Q53F53;