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Description for Protein ALS2

amyotrophic lateral sclerosis 2 (juvenile)
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • MORN: Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases.
  • VPS9: Domain present in VPS9
  • RHOGEF: Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04575
    KEGG - Pathway(s):
    hsa05014
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    ALS2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 10
    Human (de-) phosphorylation sites: 10; 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:

  • Amyotrophic lateral sclerosis 2, juvenile(Pd);
  • Primary lateral sclerosis, juvenile(Pd);
  • Spastic paralysis, infantile-onset ascending(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05893 Entrez Gene ID: 57679 OMIM ID: 606352 Swissprot Accession: Q96Q42; A8K4R4;