ENSG00000124713


Homo sapiens

Features
Gene ID: ENSG00000124713
  
Biological name :GNMT
  
Synonyms : glycine N-methyltransferase / GNMT / Q14749
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.1
Gene start: 42960758
Gene end: 42963880
  
Corresponding Affymetrix probe sets: 210328_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000361894
NCBI entrez gene - 27232     See in Manteia.
NCBI entrez gene - 107080644     See in Manteia.
OMIM - 606628
RefSeq - NM_018960
RefSeq - NM_001318856
RefSeq - NM_001318865
RefSeq Peptide - NP_001305785
RefSeq Peptide - NP_001305794
RefSeq Peptide - NP_061833
swissprot - Q14749
swissprot - V9HW60
Ensembl - ENSG00000124713
  
Related genetic diseases (OMIM): 606664 - Glycine N-methyltransferase deficiency, 606664
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gnmtENSDARG00000006840Danio rerio
 GNMTENSGALG00000043290Gallus gallus
 GnmtENSMUSG00000002769Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR014369  Glycine/Sarcosine N-methyltransferase
 IPR029063  S-adenosyl-L-methionine-dependent methyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005977 glycogen metabolic process IEA
 biological_processGO:0006111 regulation of gluconeogenesis IEA
 biological_processGO:0006464 cellular protein modification process NAS
 biological_processGO:0006555 methionine metabolic process IEA
 biological_processGO:0006730 one-carbon metabolic process IEA
 biological_processGO:0032259 methylation IEA
 biological_processGO:0034641 cellular nitrogen compound metabolic process TAS
 biological_processGO:0046500 S-adenosylmethionine metabolic process IDA
 biological_processGO:0051289 protein homotetramerization IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005542 folic acid binding IEA
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0016594 glycine binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017174 glycine N-methyltransferase activity TAS
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Metabolism of ingested SeMet, Sec, MeSec into H2Se
Glyoxylate metabolism and glycine degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003235 Hypermethioninemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124713 GNMT / Q14749 / glycine N-methyltransferase  / complex






 

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