SHMT1 Gene Summary [Human]
This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Details
| Type | Retained Intron |
| Official Symbol | SHMT1 |
| Official Name | serine hydroxymethyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:10850] |
| Ensembl ID | ENSG00000176974 |
| Bio databases IDs | |
| Aliases | serine hydroxymethyltransferase 1, cytoplasmic serine hydroxymethyltransferase, 14 kDa protein |
| Synonyms | AC127537.8, CSHMT, Hydroxymethyltransferase, LRRGT00032, mSHMT, mshmt1, mshmt2, Serine Hydroxymethyl Transferase, serine hydroxymethyltransferase 1, serine hydroxymethyltransferase 1 (soluble), SHMT |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SHMT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aldehyde lyase
- L-allo-threonine aldolase
- enzyme
- Aminotransferase class I and II
- protein binding
- identical protein binding
- amino acid binding
- pyridoxal phosphate binding
- binding protein
- mRNA 5' UTR binding
- nucleic acid binding translation repressor
- protein homodimerization
- AAT_I
- glycine hydroxymethyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- tumorigenesis
regulates
- glycine
- L-serine
- carnitine
- dTMP
- PRKN
- S-adenosylmethionine
- folic acid
- uracil
- L-tetrahydrofolic acid
- purine base
role in cell
- growth
- response by
- translation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- nucleoplasm
- nuclear rim
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SHMT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein homotetramerization
- glycine biosynthetic process from serine
- L-serine metabolic process
- folic acid metabolic process
- tetrahydrofolate interconversion
- tetrahydrofolate metabolic process
- dTMP biosynthetic process
- purine base biosynthetic process
- negative regulation of translation
- L-serine catabolic process
- glycine metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytoplasm
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- serine binding
- identical protein binding
- pyridoxal phosphate binding
- protein homodimerization activity
- protein binding
- mRNA 5'-UTR binding
- translation repressor activity, nucleic acid binding
- glycine hydroxymethyltransferase activity
- small molecule binding