Aliases for SHMT1 Gene
External Ids for SHMT1 Gene
Previous GeneCards Identifiers for SHMT1 Gene
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]
GeneCards Summary for SHMT1 Gene
SHMT1 (Serine Hydroxymethyltransferase 1) is a Protein Coding gene. Diseases associated with SHMT1 include Adult Acute Lymphocytic Leukemia and Smith-Magenis Syndrome. Among its related pathways are One carbon pool by folate and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding. An important paralog of this gene is SHMT2.
UniProtKB/Swiss-Prot Summary for SHMT1 Gene
Interconversion of serine and glycine (PubMed:8505317, PubMed:24698160).