Homo sapiens Gene: SHMT1 | |||||||||||||||||||||||||||||||||||
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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)
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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] |
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Gene Information | |||||||||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||||||||
Genomic Location | Chromosome 17:18327860-18363563 | ||||||||||||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||||||||||||
Band | p11.2 | ||||||||||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
One carbon pool by folate pathway
Cyanoamino acid metabolism pathway
Glycine, serine and threonine metabolism pathway
Glyoxylate and dicarboxylate metabolism pathway
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INOH |
Folate metabolism pathway
Glycine Serine metabolism pathway
Lysine degradation pathway
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PID NCI |
Validated targets of C-MYC transcriptional activation
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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 | ||||||||||||||||||||||||||||||||||