• Gene id: 6472

Gene Summary

• Gene Symbol: SHMT2   Gene   UCSC   Ensembl
• Aliases: GLYA, HEL-S-51e, SHMT
• Gene name: serine hydroxymethyltransferase 2
• Alternate names: serine hydroxymethyltransferase, mitochondrial, GLY A+, epididymis secretory sperm binding protein Li 51e, glycine auxotroph A, human complement for hamster, glycine hydroxymethyltransferase, serine aldolase, serine hydroxymethylase, serine hydroxymethyltransfer,
• Gene location: 12q13.3 (57229684: 57234934)     Exons: 35     NC_000012.12
• Gene summary(Entrez): This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glyci
• OMIM: 138450

Protein Summary

• Protein general information: P34897  
  • Name: Serine hydroxymethyltransferase, mitochondrial (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)
  • Length: 504  
  • Mass: 55993
• Sequence:

  MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIA
  SENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAV
  YTALLQPHDRIMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGT
  SAYARLIDYARMREVCDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVD
  PKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSG
  GTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDE
  GVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGFDEH

• Structural information:
  • Interpro: IPR015424  IPR015422  IPR015421  IPR001085  IPR019798   IPR039429  
  • Prosite: PS00096
  • CDD: cd00378
  • PDB: 4PVF 5V7I 5X3V 6DK3 6H3C 6QVG 6QVL 6R8F
  • PDBsum: 4PVF 5V7I 5X3V 6DK3 6H3C 6QVG 6QVL 6R8F
  • STRING: ENSP00000333667
• Other Databases: GeneCards:  SHMT2  Malacards:  SHMT2

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:0034340	response to type I interferon	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:0002082	regulation of oxidative phosphorylation	IBA	biological process
GO:0070905	serine binding	IBA	molecular function
GO:0070552	BRISC complex	IBA	cellular component
GO:0050897	cobalt ion binding	IBA	molecular function
GO:0042802	identical protein binding	IBA	molecular function
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0004372	glycine hydroxymethyltransferase activity	IBA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0006730	one-carbon metabolic process	IDA	biological process
GO:0006544	glycine metabolic process	IDA	biological process
GO:0034340	response to type I interferon	IDA	biological process
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0006544	glycine metabolic process	IDA	biological process
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0006730	one-carbon metabolic process	IDA	biological process
GO:0006730	one-carbon metabolic process	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0070552	BRISC complex	IDA	cellular component
GO:0051262	protein tetramerization	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0006563	L-serine metabolic process	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0006563	L-serine metabolic process	IDA	biological process
GO:0002082	regulation of oxidative phosphorylation	IMP	biological process
GO:0002082	regulation of oxidative phosphorylation	IMP	biological process
GO:0070536	protein K63-linked deubiquitination	IMP	biological process
GO:1903715	regulation of aerobic respiration	IMP	biological process
GO:0070129	regulation of mitochondrial translation	IMP	biological process
GO:1903715	regulation of aerobic respiration	IMP	biological process
GO:0070129	regulation of mitochondrial translation	IMP	biological process
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:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004372	glycine hydroxymethyltransferase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:1903715	regulation of aerobic respiration	IEA	biological process
GO:0070129	regulation of mitochondrial translation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0008732	L-allo-threonine aldolase activity	IEA	molecular function
GO:0006564	L-serine biosynthetic process	IEA	biological process
GO:0006545	glycine biosynthetic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004372	glycine hydroxymethyltransferase activity	IEA	molecular function
GO:0002082	regulation of oxidative phosphorylation	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0019264	glycine biosynthetic process from serine	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0006544	glycine metabolic process	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0035999	tetrahydrofolate interconversion	IEA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0006730	one-carbon metabolic process	IDA	biological process
GO:0004372	glycine hydroxymethyltransferase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881