Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6470
Gene name Gene Name - the full gene name approved by the HGNC.
Serine hydroxymethyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHMT1
Synonyms (NCBI Gene) Gene synonyms aliases
CSHMT, SHMT
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016266 hsa-miR-193b-3p Microarray 20304954
MIRT045899 hsa-miR-125b-5p CLASH 23622248
MIRT666395 hsa-miR-548a-3p HITS-CLIP 23824327
MIRT666394 hsa-miR-548ar-3p HITS-CLIP 23824327
MIRT666393 hsa-miR-548az-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
MYC Unknown 12138190
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000900 Function MRNA regulatory element binding translation repressor activity IDA 10995219
GO:0004372 Function Glycine hydroxymethyltransferase activity IBA
GO:0004372 Function Glycine hydroxymethyltransferase activity IDA 8505317, 10995219, 17482557, 24698160
GO:0004372 Function Glycine hydroxymethyltransferase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 30613765, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182144 10850 ENSG00000176974
Protein
UniProt ID P34896
Protein name Serine hydroxymethyltransferase, cytosolic (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)
Protein function Interconversion of serine and glycine (PubMed:24698160, PubMed:8505317).
PDB 1BJ4 , 6FL5 , 6M5W , 7RJL , 7RJP , 8A11 , 8R7H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00464 SHMT 26 425 Serine hydroxymethyltransferase Domain
Sequence
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycine, serine and threonine metabolism
Glyoxylate and dicarboxylate metabolism
One carbon pool by folate
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Biosynthesis of cofactors
Antifolate resistance
Folate transport and metabolism
  Metabolism of folate and pterines
Carnitine synthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gastrointestinal stromal tumor gastrointestinal stromal tumor N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26553359
Alopecia Associate 16447238
Breast Neoplasms Associate 17595805, 24979213, 25496516, 25598430, 27347936
Breast Neoplasms Inhibit 27347936
Calcinosis Associate 30071536
Carcinoma Stimulate 27277113
Carcinoma Ductal Associate 25053597
Carcinoma Hepatocellular Associate 25318605, 27936032
Carcinoma Lobular Associate 25053597
Carcinoma Medullary Inhibit 27277113