Homo sapiens Gene: SHMT1
Summary
InnateDB Gene IDBG-33954.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SHMT1
Gene Name serine hydroxymethyltransferase 1 (soluble)
Synonyms CSHMT; SHMT
Species Homo sapiens
Ensembl Gene ENSG00000176974
Encoded Proteins
serine hydroxymethyltransferase 1 (soluble)
serine hydroxymethyltransferase 1 (soluble)
serine hydroxymethyltransferase 1 (soluble)
serine hydroxymethyltransferase 1 (soluble)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:18327860-18363563
Strand Reverse strand
Band p11.2
Transcripts
ENST00000316694 ENSP00000318868
ENST00000354098 ENSP00000318805
ENST00000352886 ENSP00000345881
ENST00000395684
ENST00000395682
ENST00000579558
ENST00000583780 ENSP00000462041
ENST00000582653 ENSP00000462227
ENST00000580002 ENSP00000462043
ENST00000582352
ENST00000618902 ENSP00000477782
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
Experimentally validated
Total 33 [view]
Protein-Protein 33 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004372 glycine hydroxymethyltransferase activity
GO:0008242 omega peptidase activity
GO:0008732 L-allo-threonine aldolase activity
GO:0016597 amino acid binding
GO:0030170 pyridoxal phosphate binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0006508 proteolysis
GO:0006544 glycine metabolic process
GO:0006545 glycine biosynthetic process
GO:0006563 L-serine metabolic process
GO:0006565 L-serine catabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009058 biosynthetic process
GO:0009113 purine nucleobase biosynthetic process
GO:0019264 glycine biosynthetic process from serine
GO:0034641 cellular nitrogen compound metabolic process
GO:0035999 tetrahydrofolate interconversion
GO:0044281 small molecule metabolic process
GO:0045329 carnitine biosynthetic process
GO:0046655 folic acid metabolic process
GO:0051262 protein tetramerization
GO:0051289 protein homotetramerization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Carnitine synthesis pathway
Metabolism of folate and pterines pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Metabolism of amino acids and derivatives pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
One carbon pool by folate pathway
Cyanoamino acid metabolism pathway
Glycine, serine and threonine metabolism pathway
Glyoxylate and dicarboxylate metabolism pathway
INOH
Folate metabolism pathway
Glycine Serine metabolism pathway
Lysine degradation pathway
PID NCI
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 6470
UniGene Hs.513987 Hs.736265
RefSeq NM_001281786 NM_004169 NM_148918 XM_005256767
HUGO HGNC:10850
OMIM 182144
CCDS CCDS11196 CCDS11197 CCDS62112
HPRD 01643
IMGT
EMBL
GenPept
RNA Seq Atlas 102466733 6470