Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:SHMT
SHMT1C serine hydroxymethyltransferase, cytosolic |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:cancer
neural tube defects |
| gptkbp:biologicalProcess |
one-carbon metabolic process
serine hydroxymethyltransferase activity folic acid metabolic process glycine biosynthetic process |
| gptkbp:discoveredBy |
biochemical characterization
|
| gptkbp:encodes |
serine hydroxymethyltransferase, cytosolic
|
| gptkbp:Entrez_Gene_ID |
6470
ENSG00000133048 |
| gptkbp:enzymeCommissionNumber |
2.1.2.1
|
| gptkbp:expressedIn |
gptkb:cancer
gptkb:skeletal_muscle gptkb:kidney brain heart liver pancreas |
| gptkbp:fullName |
serine hydroxymethyltransferase 1
|
| gptkbp:function |
catalyzes conversion of serine and tetrahydrofolate to glycine and 5,10-methylenetetrahydrofolate
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasPolymorphism |
C1420T
G1958A |
| gptkbp:HGNC_ID |
10840
|
| https://www.w3.org/2000/01/rdf-schema#label |
SHMT1
|
| gptkbp:length |
483 amino acids
|
| gptkbp:locatedIn |
gptkb:chromosome_17
|
| gptkbp:location |
cytosol
|
| gptkbp:molecularWeight |
53 kDa
|
| gptkbp:mutationAssociatedWith |
can affect folate metabolism
can increase risk of certain cancers |
| gptkbp:OMIM |
182144
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Shmt1
|
| gptkbp:pathway |
Folate biosynthesis
Metabolism of amino acids and derivatives One carbon pool by folate |
| gptkbp:regulates |
regulated by cell cycle
regulated by folate levels |
| gptkbp:relatedTo |
one-carbon metabolism
folate cycle |
| gptkbp:UniProtID |
P34896
|
| gptkbp:bfsParent |
gptkb:serine_hydroxymethyltransferase
gptkb:chromosome_17q11.2 |
| gptkbp:bfsLayer |
8
|