SHMT1 (serine hydroxymethyltransferase 1)

2007-02-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
CSHMT,SHMT
FUSION GENES

Other Information

Locus ID:

NCBI: 6470
MIM: 182144
HGNC: 10850
Ensembl: ENSG00000176974

Variants:

dbSNP: 6470
ClinVar: 6470
TCGA: ENSG00000176974
COSMIC: SHMT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176974ENST00000316694P34896
ENSG00000176974ENST00000352886P34896
ENSG00000176974ENST00000354098P34896
ENSG00000176974ENST00000580002J3KRK5
ENSG00000176974ENST00000582653J3KRZ5
ENSG00000176974ENST00000618902A0A087WTD8

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glyoxylate and dicarboxylate metabolismKEGGko00630
One carbon pool by folateKEGGko00670
Glycine, serine and threonine metabolismKEGGhsa00260
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
C1-unit interconversion, eukaryotesKEGGhsa_M00141
C1-unit interconversion, eukaryotesKEGGM00141
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Carnitine synthesisREACTOMER-HSA-71262
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD22044939
PA130232992bevacizumabChemicalClinicalAnnotationassociatedPD22044939
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD18322994, 20386493
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPD22044939
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPKPD15797993, 18368069, 22838948
PA450085irinotecanChemicalClinicalAnnotationassociatedPD22044939
PA450198leucovorinChemicalClinicalAnnotationassociatedPD22044939
PA450428methotrexateChemicalClinicalAnnotationassociatedPKPD15797993, 18322994, 18368069, 20386493, 22838948

References

Pubmed IDYearTitleCitations
121614342002Cytoplasmic serine hydroxymethyltransferase mediates competition between folate-dependent deoxyribonucleotide and S-adenosylmethionine biosyntheses.87
126150032003Increase of functional diversity by alternative splicing.87
195131162009SHMT1 and SHMT2 are functionally redundant in nuclear de novo thymidylate biosynthesis.60
174461682007Evidence for small ubiquitin-like modifier-dependent nuclear import of the thymidylate biosynthesis pathway.53
183786162008Cardiac autonomic dysfunction: effects from particulate air pollution and protection by dietary methyl nutrients and metabolic polymorphisms.53
183786162008Cardiac autonomic dysfunction: effects from particulate air pollution and protection by dietary methyl nutrients and metabolic polymorphisms.53
183814592008Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.42
173112602007Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses.40
150600972004Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.39
170351412006Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.38

Citation

Dessen P

SHMT1 (serine hydroxymethyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45764/shmt1-(serine-hydroxymethyltransferase-1)