SHMT1 (serine hydroxymethyltransferase 1)

2007-02-01  

Identity

HGNC
SHMT1
LOCATION
17p11.2
LOCUSID
6470
ALIAS
CSHMT,SHMT
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
364172802023Serine hydroxymethyltransferase 1 promotes low-grade glioma progression by activating mTORC1 signaling.1
364172802023Serine hydroxymethyltransferase 1 promotes low-grade glioma progression by activating mTORC1 signaling.1
339745842022Association Between SHMT1 rs1979277 Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Systematic Review and Meta-analysis.1
343414792022Targeting serine hydroxymethyltransferases 1 and 2 for T-cell acute lymphoblastic leukemia therapy.20
339745842022Association Between SHMT1 rs1979277 Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Systematic Review and Meta-analysis.1
343414792022Targeting serine hydroxymethyltransferases 1 and 2 for T-cell acute lymphoblastic leukemia therapy.20
332597752021The association between serine hydroxymethyl transferase 1 gene hypermethylation and ischemic stroke.3
333267522021Tumor Reliance on Cytosolic versus Mitochondrial One-Carbon Flux Depends on Folate Availability.23
332597752021The association between serine hydroxymethyl transferase 1 gene hypermethylation and ischemic stroke.3
333267522021Tumor Reliance on Cytosolic versus Mitochondrial One-Carbon Flux Depends on Folate Availability.23
317132932020A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.4
317132932020A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.4
304118152019Serine hydroxymethyltransferase 1 promoter hypermethylation increases the risk of essential hypertension.5
304567212019Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.4
308096702019The moonlighting RNA-binding activity of cytosolic serine hydroxymethyltransferase contributes to control compartmentalization of serine metabolism.21

Citation

Dessen P

SHMT1 (serine hydroxymethyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45764/case-report-explorer/css/lib/js/template.js