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FLASH GENE
Symbol SHMT1 contributors: mct - updated : 25-08-2012
HGNC name serine hydroxymethyltransferase 1 (soluble)
HGNC id 10850
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated ubiquitinated
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,cytosolic
intracellular,nucleus
text
  • SUMO and ubiquitin modification of SHMT1 occurs on the same lysine residue and determine the localization and accumulation of SHMT1 in the nucleus
  • basic FUNCTION
  • catalyzing serine synthesis
  • putative regulator of cell growth and proliferation
  • SHMT1 and SHMT2 are functionally redundant in nuclear de novo thymidylate biosynthesis
  • SHMT1-mediated nuclear de novo thymidylate synthesis is critical for maintaining DNA integrity
  • catalyzes the transfer of a beta-carbon from serine to tetrahydrofolate to form glycine and 5,10-methylene-tetrahydrofolate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism monocarbon
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    pyridoxal phosphate
    protein
  • interact with UBE2I and was a substrate for UBE2I-catalyzed small ubiquitin-like modifier (SUMO) modification in vitro
  • cell & other
  • interacts with components of the proteasome in both the nucleus and cytoplasm, indicating that degradation occurs in both compartments
  • REGULATION
    Other ubiquitinated at the small ubiquitin-like modifier (SUMO) consensus motif and ubiquitination at that site is required for SHMT1 degradation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Smith-Magenis syndrome
    tumoral     --other  
    aberrantly expressed in breast and ovarian cancer (
    Susceptibility to Down syndrome in young woman (DS)
    Variant & Polymorphism SNP
  • protective role for the genotypes SHMT1 CC and CT (C1420T) on maternal risk for DS, but he concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT1
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS