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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SHMT1
serine hydroxymethyltransferase 1
Chromosome 17 · 17p11.2
NCBI Gene: 6470Ensembl: ENSG00000176974.23HGNC: HGNC:10850UniProt: P34896
196PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA regulatory element binding translation repressor activityglycine hydroxymethyltransferase activitythreonine aldolase activityprotein bindingneurodegenerative diseasemultiple sclerosisParkinson diseaseAlzheimer disease
✦AI Summary

SHMT1 (serine hydroxymethyltransferase 1) is a pyridoxal phosphate-dependent enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate, serving as a critical component of folate metabolism and one-carbon biosynthesis 1. The enzyme provides one-carbon units essential for DNA synthesis, methylation, and biosynthesis of methionine, purines, and pyrimidines 2. SHMT1 functions through multiple mechanisms: it acts as a metabolic enzyme facilitating serine-glycine interconversion, serves as a nuclear scaffold protein anchoring thymidylate synthesis complexes to DNA replication sites, and possesses RNA-binding capability that regulates cellular metabolism 1. The enzyme exhibits riboregulation, where RNA binding acts as an allosteric switch that selectively alters enzymatic reactivity toward serine 1. Disease relevance includes associations with cancer susceptibility, particularly non-Hodgkin lymphoma risk through the C1420T polymorphism 3, and potential protective effects against colorectal cancer in certain populations 2. SHMT1 variants are also associated with multiple sclerosis susceptibility 4 and have been identified as potential therapeutic targets for neurodegenerative diseases 5. Clinical significance extends to muscle hypertrophy, where SHMT1 genetic variations correlate with appendicular lean mass 6, highlighting its broader role in cellular growth and metabolism.

Sources cited
1
SHMT1 (serine hydroxymethyltransferase 1) is a pyridoxal phosphate-dependent enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate, serving as a critical component of folate metabolism and one-carbon biosynthesis .
PMID: 38996576
2
The enzyme provides one-carbon units essential for DNA synthesis, methylation, and biosynthesis of methionine, purines, and pyrimidines .
PMID: 25194438
3
Disease relevance includes associations with cancer susceptibility, particularly non-Hodgkin lymphoma risk through the C1420T polymorphism , and potential protective effects against colorectal cancer in certain populations .
PMID: 26666829
4
SHMT1 variants are also associated with multiple sclerosis susceptibility and have been identified as potential therapeutic targets for neurodegenerative diseases .
PMID: 30456721
5
SHMT1 variants are also associated with multiple sclerosis susceptibility and have been identified as potential therapeutic targets for neurodegenerative diseases .
PMID: 36759259
6
Clinical significance extends to muscle hypertrophy, where SHMT1 genetic variations correlate with appendicular lean mass , highlighting its broader role in cellular growth and metabolism.
PMID: 38742477
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.39Weak
Parkinson diseaseOpen Targets
0.35Weak
Alzheimer diseaseOpen Targets
0.35Weak
lysosomal storage diseaseOpen Targets
0.35Weak
preeclampsiaOpen Targets
0.25Weak
gastrointestinal stromal tumorOpen Targets
0.11Weak
Hodgkins lymphomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
maleylacetoacetate isomerase deficiencyOpen Targets
0.07Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
glycine N-methyltransferase deficiencyOpen Targets
0.06Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
Gilbert syndromeOpen Targets
0.06Suggestive
intrahepatic cholestasisOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPTLC1Protein interaction100%ADSLProtein interaction100%ADSS2Protein interaction100%ATICProtein interaction100%FPGSProtein interaction100%PPATProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
4%
Bone Marrow
4%
Ovary
4%
Lung
3%
Heart
2%
Gene Interaction Network
Click a node to explore
SHMT1SPTLC1ADSLADSS2ATICFPGSPPAT
PROTEIN STRUCTURE
Preparing viewer…
PDB7RJP · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.61–1.08]
RankingsWhere SHMT1 stands among ~20K protein-coding genes
  • #2,166of 20,598
    Most Researched196 · top quartile
  • #10,909of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedSHMT1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Phosphorylated SHMT2 Regulates Oncogenesis Through m
PMID: 38460155
Adv Sci (Weinh) · 2024
1.00
2
Association between cytosolic serine hydroxymethyltransferase (SHMT1) gene polymorphism and cancer risk: a meta-analysis.
PMID: 25194438
Biomed Pharmacother · 2014
0.90
3
Skeletal muscle hypertrophy rewires glucose metabolism: An experimental investigation and systematic review.
PMID: 38742477
J Cachexia Sarcopenia Muscle · 2024
0.80
4
The oncoprotein SET promotes serine-derived one-carbon metabolism by regulating SHMT2 enzymatic activity.
PMID: 40339130
Proc Natl Acad Sci U S A · 2025
0.72
5
Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.
PMID: 30456721
Biochem Genet · 2019
0.70