• Gene id: 6470

Gene Summary

• Gene Symbol: SHMT1   Gene   UCSC   Ensembl
• Aliases: CSHMT, SHMT
• Gene name: serine hydroxymethyltransferase 1
• Alternate names: serine hydroxymethyltransferase, cytosolic, cytoplasmic serine hydroxymethyltransferase, glycine hydroxymethyltransferase, serine hydroxymethyltransferase 1 (soluble), serine methylase,
• Gene location: 17p11.2 (18363562: 18327859)     Exons: 14     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 182144

Protein Summary

• Protein general information: P34896  
  • Name: Serine hydroxymethyltransferase, cytosolic (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)
  • Length: 483  
  • Mass: 53083
• Sequence:

  MTMPVNGAHKDADLWSSHDKMLAQPLKDSDVEVYNIIKKESNRQRVGLELIASENFASRAVLEALGSCLNNKYSE
  GYPGQRYYGGTEFIDELETLCQKRALQAYKLDPQCWGVNVQPYSGSPANFAVYTALVEPHGRIMGLDLPDGGHLT
  HGFMTDKKKISATSIFFESMPYKVNPDTGYINYDQLEENARLFHPKLIIAGTSCYSRNLEYARLRKIADENGAYL
  MADMAHISGLVAAGVVPSPFEHCHVVTTTTHKTLRGCRAGMIFYRKGVKSVDPKTGKEILYNLESLINSAVFPGL
  QGGPHNHAIAGVAVALKQAMTLEFKVYQHQVVANCRALSEALTELGYKIVTGGSDNHLILVDLRSKGTDGGRAEK
  VLEACSIACNKNTCPGDRSALRPSGLRLGTPALTSRGLLEKDFQKVAHFIHRGIELTLQIQSDTGVRATLKEFKE
  RLAGDKYQAAVQALREEVESFASLFPLPGLPDF

• Structural information:
  • Interpro: IPR015424  IPR015422  IPR015421  IPR001085  IPR019798   IPR039429  
  • Prosite: PS00096
  • CDD: cd00378
  • PDB: 1BJ4 6FL5
  • PDBsum: 1BJ4 6FL5
  • STRING: ENSP00000318868
• Other Databases: GeneCards:  SHMT1  Malacards:  SHMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904482	cellular response to tetrahydrofolate	IBA	biological process
GO:0051289	protein homotetramerization	IBA	biological process
GO:0046655	folic acid metabolic process	IBA	biological process
GO:0046653	tetrahydrofolate metabolic process	IBA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0035999	tetrahydrofolate interconversion	IBA	biological process
GO:0030170	pyridoxal phosphate binding	IBA	molecular function
GO:0019264	glycine biosynthetic process from serine	IBA	biological process
GO:0016597	amino acid binding	IBA	molecular function
GO:0008270	zinc ion binding	IBA	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0006565	L-serine catabolic process	IBA	biological process
GO:0006544	glycine metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IBA	biological process
GO:0070905	serine binding	IBA	molecular function
GO:0050897	cobalt ion binding	IBA	molecular function
GO:0048027	mRNA 5'-UTR binding	IBA	molecular function
GO:0009113	purine nucleobase biosynthetic process	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004372	glycine hydroxymethyltransferase activity	IBA	molecular function
GO:0000900	translation repressor activity, mRNA regulatory element binding	IBA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0006544	glycine metabolic process	IDA	biological process
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0006563	L-serine metabolic process	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0019264	glycine biosynthetic process from serine	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0035999	tetrahydrofolate interconversion	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004372	glycine hydroxymethyltransferase activity	IEA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004372	glycine hydroxymethyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045329	carnitine biosynthetic process	TAS	biological process
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006544	glycine metabolic process	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0019264	glycine biosynthetic process from serine	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006231	dTMP biosynthetic process	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IEA	molecular function
GO:0006545	glycine biosynthetic process	IEA	biological process
GO:0008732	L-allo-threonine aldolase activity	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:1904482	cellular response to tetrahydrofolate	IDA	biological process
GO:0035999	tetrahydrofolate interconversion	IDA	biological process
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0070905	serine binding	IDA	molecular function
GO:0036094	small molecule binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035999	tetrahydrofolate interconversion	IEA	biological process
GO:0000900	translation repressor activity, mRNA regulatory element binding	IDA	molecular function
GO:0017148	negative regulation of translation	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0048027	mRNA 5'-UTR binding	IDA	molecular function
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0006565	L-serine catabolic process	IDA	biological process
GO:0009113	purine nucleobase biosynthetic process	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0046655	folic acid metabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00260	Glycine, serine and threonine metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa01523	Antifolate resistance
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Breast cancer	PMID:17896178
Ovarian cancer	PMID:17031801
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq