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Description for Protein SMNDC1

survival motor neuron domain containing 1
18 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • TUDOR: Tudor domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12839
    KEGG - Pathway(s):
    hsa03040
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Splicing factor 30, survival of motor neuron-related; Survival of motor neuron-related splicing factor 30; 30 kDa splicing factor SMNrp; Survival motor neuron domain containing protein 1; Survival of motor neuron related protein; SPF30; SMNR
    Approved Symbol:
    SMNDC1
    (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:

    None Available
    Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 04627 Entrez Gene ID: 10285 OMIM ID: 603519 Swissprot Accession: O75940