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FLASH GENE
Symbol SHMT1 contributors: mct - updated : 25-08-2012
HGNC name serine hydroxymethyltransferase 1 (soluble)
HGNC id 10850
Location 17p11.2      Physical location : 18.231.194 - 18.266.856
Synonym name cytoplasmic serine hydroxymethyltransferase
Synonym symbol(s) CSHMT, SHMT
EC.number 2.1.2.1
DNA
TYPE functioning gene
STRUCTURE 35.67 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
motif
text structure
  • no TATA
  • 5'- (UTR) contains an internal ribosome entry site (IRES) that regulates SHMT1 expression
  • MAPPING cloned Y linked N status confirmed
    Map see SMCR (phenotype)
    Physical map
    TOM1L2 17p11.2 target of myb1-like 2 (chicken) DKFZP586M1120 17p11.2 hypothetical protein DKFZp586M1120 ATPAF2 17p11.2 ATP synthase mitochondrial F1 complex assembly factor 2 MGC3048 17p11.2 hypothetical protein MGC3048 DRG2 17p11.2 developmentally regulated GTP binding protein 2 MYO15A 17p11.2 myosin XVA FLJ20308 17p11.2 hypothetical protein FLJ20308 LLGL1 17p11.2 lethal giant larvae homolog 1 (Drosophila) FLII 17p11.2 flightless I homolog (Drosophila) SMCR7 17p12 Smith-Magenis syndrome chromosome region, candidate 7 TOP3A 17p11.2 topoisomerase (DNA) III alpha SMCR8 17p11.2 Smith-Magenis syndrome chromosome region, candidate 8 SHMT1 17p11.2 serine hydroxymethyltransferase 1 (soluble) LOC339237 17p11.2 similar to Envoplakin (210 kDa paraneoplastic pemphigus antigen) (p210) (210 kDa cornified envelope precursor) LOC339240 17p11.2 keratin pseudogene LOC339241 17p11.2 keratin pseudogene LOC339242 17p11.2 similar to Keratin, type I cytoskeletal 14 (Cytokeratin 14) (K14) (CK 14) LOC339243 17p11.2 similar to Keratin, type I cytoskeletal 16 (Cytokeratin 16) (K16) (CK 16) LOC339244 17p11.2 keratin pseudogene LOC252968 17p11.2 karyopherin (importin) beta 2 pseudogene LOC147158 17p11.2 lectin, galactoside-binding, soluble, 9 (galectin 9) pseudogene LOC201288 17p11.2 nitric oxide synthase 2A (inducible, hepatocytes) pseudogene LOC220594 17p11.2 TL132 protein FLJ11800 17p11.2 hypothetical protein FLJ11800 LOC252840 17p11.1 signal recognition particle 68kD pseudogene LOC201287 17p11.2 KIAA0565 related gene FLJ36492 17p11.2 hypothetical protein FLJ36492 FLJ40244 17p11.2 hypothetical protein FLJ40244 LOC388345 17 similar to poly(A) binding protein interacting protein 1 isoform 1; polyadenylate binding protein-interacting protein 1; PABC1-interacting protein 1 FOXO3B 17p11 forkhead box O3B LOC390771 17 similar to Ubiquitin-conjugating enzyme E2-24 kDa (Ubiquitin-protein ligase) (Ubiquitin carrier protein) (E2-EPF5) LOC147166 17p11.2 similar to Tripartite motif protein 16 (Estrogen-responsive B box protein)
    regionally located within the Smith-Magenis critical region
    RNA
    TRANSCRIPTS type messenger
    text with several alternatively spliced isoforms(Girgis)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2423 - 444 - 2012 22194612
    12 - 2540 - 483 - 2012 22194612
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Reproductivefemale systemuteruscervix  
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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