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Description for Protein SAR1B

SAR1 homolog B (S. cerevisiae)
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 5)
Summary:
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K07954
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
CMRD; GTP binding protein SAR1b; GTBPB; SARB; GTP binding protein Sara
Approved Symbol:
SAR1B
(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):

  • Guanosine-5'-Diphosphate(db)

    Associated Genetic Diseases:

  • Anderson disease(Pd);
  • Chylomicron retention disease(Pd);
  • Chylomicron retention disease with Marinesco-Sjogren syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09647 Entrez Gene ID: 51128 OMIM ID: 607690 Swissprot Accession: Q9Y6B6;