SHMT1 Back

serine hydroxymethyltransferase 1 (soluble)

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NCBI Description of SHMT1
This gene encodes the cellular 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. Alternative splicing of this gene results in 2 transcript variants encoding 2 different isoforms. Additional transcript variants have been described, but their biological validity has not been determined.

Community Annotation of SHMT1 Add / Edit SHMT1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SHMT1 is highly significantly mutated in
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SHMT1 is significantly mutated in
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SHMT1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SHMT1