Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.1.2.1
Transferases;
Transferring one-carbon groups;
Hydroxymethyl-, formyl- and related transferases;
glycine hydroxymethyltransferase
PDB | Resolution (Å) | PDB name |
---|---|---|
4PVF | 2.6 | Crystal structure of Homo sapiens holo serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), isoform 3, transcript variant 5, 483 aa, at 2.6 ang. resolution |
5V7I | 2.47 | Crystal structure of homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), in complex with glycine, PLP and folate-competitive pyrazolopyran inhibitor: 6-amino-4-isopropyl-3-methyl-4-(3-(pyrrolidin-1-yl)-5-(trifluoromethyl)phenyl)-1,4-dihydropyrano[2,3-c]pyrazole-5-carbonitrile |
5X3V | 2.85 | Structure of human SHMT2 protein mutant |
6DK3 | 2.04 | HUMAN MITOCHONDRIAL SERINE HYDROXYMETHYLTRANSFERASe 2 |
6H3C | 3.9 | Cryo-EM structure of the BRISC complex bound to SHMT2 |
6M5O | 2.30001 | Co-crystal structure of human serine hydroxymethyltransferase 2 in complex with Pyridoxal 5'-phosphate (PLP) and glycodeoxycholic acid |
6QVG | 2.32 | Human SHMT2 in complex with lometrexol |
6QVL | 2.28 | Human SHMT2 in complex with pemetrexed |
6R8F | 3.8 | Cryo-EM structure of the Human BRISC-SHMT2 complex |
7BYI | 2.76 | Structure of SHMT2 in complex with CBX |
8AQL | 1.23 | High-resolution crystal structure of human SHMT2 |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006564 | L-serine biosynthetic process |
Biological Process | GO:0006565 | L-serine catabolic process |
Biological Process | GO:0006563 | L-serine metabolic process |
Biological Process | GO:0046655 | folic acid metabolic process |
Biological Process | GO:0019264 | glycine biosynthetic process from serine |
Biological Process | GO:0006544 | glycine metabolic process |
Biological Process | GO:0006730 | one-carbon metabolic process |
Biological Process | GO:0008284 | positive regulation of cell population proliferation |
Biological Process | GO:0070536 | protein K63-linked deubiquitination |
Biological Process | GO:0051289 | protein homotetramerization |
Biological Process | GO:0051262 | protein tetramerization |
Biological Process | GO:0009113 | purine nucleobase biosynthetic process |
Biological Process | GO:1903715 | regulation of aerobic respiration |
Biological Process | GO:0070129 | regulation of mitochondrial translation |
Biological Process | GO:0002082 | regulation of oxidative phosphorylation |
Biological Process | GO:0034340 | response to type I interferon |
Biological Process | GO:0035999 | tetrahydrofolate interconversion |
Biological Process | GO:0046653 | tetrahydrofolate metabolic process |
Molecular Function | GO:0008732 | L-allo-threonine aldolase activity |
Molecular Function | GO:0003682 | chromatin binding |
Molecular Function | GO:0004372 | glycine hydroxymethyltransferase activity |
Molecular Function | GO:0048027 | mRNA 5'-UTR binding |
Molecular Function | GO:0000900 | mRNA regulatory element binding translation repressor activity |
Molecular Function | GO:0042803 | protein homodimerization activity |
Molecular Function | GO:0030170 | pyridoxal phosphate binding |
Molecular Function | GO:0070905 | serine binding |
Molecular Function | GO:0008270 | zinc ion binding |
Cellular Component | GO:0070552 | BRISC complex |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0070062 | extracellular exosome |
Cellular Component | GO:0015630 | microtubule cytoskeleton |
Cellular Component | GO:0005743 | mitochondrial inner membrane |
Cellular Component | GO:0005758 | mitochondrial intermembrane space |
Cellular Component | GO:0005759 | mitochondrial matrix |
Cellular Component | GO:0042645 | mitochondrial nucleoid |
Cellular Component | GO:0005739 | mitochondrion |
Cellular Component | GO:0005634 | nucleus |
InterPro | InterPro name |
---|---|
IPR001085 | Serine hydroxymethyltransferase |
IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
IPR015424 | Pyridoxal phosphate-dependent transferase |
IPR019798 | Serine hydroxymethyltransferase, pyridoxal phosphate binding site |
IPR039429 | Serine hydroxymethyltransferase-like domain |
Pfam | Pfam name |
---|---|
PF00464 | Serine hydroxymethyltransferase |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-196757 | Metabolism of folate and pterines | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-9013408 | RHOG GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm | ECO:0000269 | PubMed:24075985 |
Mitochondrion | ECO:0000269 | PubMed:21876188 |
Mitochondrion | ECO:0000269 | PubMed:24075985 |
Mitochondrion inner membrane | ECO:0000269 | PubMed:21876188 |
Mitochondrion matrix, mitochondrion nucleoid | ECO:0000269 | PubMed:18063578 |
Nucleus | ECO:0000269 | PubMed:24075985 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000193 | Bifid uvula |
HP:0000219 | Thin upper lip vermilion |
HP:0000252 | Microcephaly |
HP:0000322 | Short philtrum |
HP:0000343 | Long philtrum |
HP:0000486 | Strabismus |
HP:0000514 | Slow saccadic eye movements |
HP:0000718 | Aggressive behavior |
HP:0000733 | Abnormal repetitive mannerisms |
HP:0001181 | Adducted thumb |
HP:0001310 | Dysmetria |
HP:0001347 | Hyperreflexia |
HP:0001349 | Facial diplegia |
HP:0001510 | Growth delay |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0001684 | Secundum atrial septal defect |
HP:0002064 | Spastic gait |
HP:0002078 | Truncal ataxia |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002119 | Ventriculomegaly |
HP:0002307 | Drooling |
HP:0002342 | Intellectual disability, moderate |
HP:0002474 | Expressive language delay |
HP:0002510 | Spastic tetraplegia |
HP:0002553 | Highly arched eyebrow |
HP:0002650 | Scoliosis |
HP:0002714 | Downturned corners of mouth |
HP:0003390 | Sensory axonal neuropathy |
HP:0003487 | Babinski sign |
HP:0003577 | Congenital onset |
HP:0003623 | Neonatal onset |
HP:0004691 | 2-3 toe syndactyly |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0009623 | Proximal placement of thumb |
HP:0009943 | Complete duplication of thumb phalanx |
HP:0010864 | Intellectual disability, severe |
HP:0012407 | Scissor gait |
HP:0012650 | Perisylvian polymicrogyria |
HP:0030953 | Conjunctival hyperemia |
HP:0031936 | Delayed ability to walk |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | MONDO:0030866 | G00 | chapter6, Diseases of the nervous system | OMIM:619121 | |
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | MONDO:0030866 | G98 | chapter6, Diseases of the nervous system | OMIM:619121 |