GNMT

Protein identityUniProt · HPA

UniProt accession

Q14749

Gene

GNMT

Ensembl

ENSG00000124713

Chromosome

6

Canonical length

295 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

This locus represents naturally occurring readthrough transcription between the upstream CNPY3 (canopy FGF signaling regulator 3) and the downstream GNMT (glycine N-methyltransferase) genes. Readthrough transcripts may encode proteins that have amino acid similarity with proteins encoded by both individual genes. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

295 residues, UniProt reviewed canonical sequence.

>Q14749|GNMT
     1  MVDSVYRTRS LGVAAEGLPD QYADGEAARV WQLYIGDTRS RTAEYKAWLL GLLRQHGCQR
    61  VLDVACGTGV DSIMLVEEGF SVTSVDASDK MLKYALKERW NRRHEPAFDK WVIEEANWMT
   121  LDKDVPQSAE GGFDAVICLG NSFAHLPDCK GDQSEHRLAL KNIASMVRAG GLLVIDHRNY
   181  DHILSTGCAP PGKNIYYKSD LTKDVTTSVL IVNNKAHMVT LDYTVQVPGA GQDGSPGLSK
   241  FRLSYYPHCL ASFTELLQAA FGGKCQHSVL GDFKPYKPGQ TYIPCYFIHV LKRTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNMT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

564 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNMT.

Disease | AllUniProt

Conditions GNMT is implicated in, by any mechanism.

• Glycine N-methyltransferase deficiency (GNMT deficiency) MIM:606664

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 138 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycine N-methyltransferase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0

gnomAD missense Z

0.35

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycogen metabolic process
• methionine metabolic process
• methylation
• one-carbon metabolic process
• protein homotetramerization
• regulation of gluconeogenesis
• S-adenosylhomocysteine metabolic process
• S-adenosylmethionine metabolic process
• sarcosine metabolic process

Molecular functions

• folic acid binding
• glycine binding
• identical protein binding
• S-adenosyl-L-methionine binding
• glycine N-methyltransferase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Methyltransferase domain 25
• Methyltransferase domain
• Glycine/Sarcosine N-methyltransferase

KeywordsUniProt

• Acetylation
• Cytoplasm
• Folate-binding
• Methyltransferase
• Phosphoprotein
• S-adenosyl-L-methionine
• Transferase

InteractionsUniProt · HPA

Protein binding partners of GNMT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARRB1