AMT

Protein identityUniProt · HPA

UniProt accession

P48728

Gene

AMT

Ensembl

ENSG00000145020

Chromosome

3

Canonical length

403 aa

Protein class

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

Subcellular location

Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

403 residues, UniProt reviewed canonical sequence.

>P48728|AMT
     1  MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV AFAGWSLPVQ
    61  YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES LVVGDIAELR PNQGTLSLFT
   121  NEAGGILDDL IVTNTSEGHL YVVSNAGCWE KDLALMQDKV RELQNQGRDV GLEVLDNALL
   181  ALQGPTAAQV LQAGVADDLR KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA
   241  VHLATAILKN PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM
   301  DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG CPSPSLKKNV
   361  AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY TLK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMT 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

53 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMT.

Disease | AllUniProt

Conditions AMT is implicated in, by any mechanism.

• Glycine encephalopathy 2 (GCE2) MIM:620398

Disease | GeneticClinVar

147 pathogenic / likely-pathogenic of 772 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycine encephalopathy
• Glycine encephalopathy 1
• Glycine encephalopathy 2
• Inborn genetic diseases
• Neurodevelopmental delay

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)

0.79

gnomAD pLI

0

gnomAD missense Z

-0.1

DepMap mean gene effect

-0.02

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

• glycine catabolic process
• glycine decarboxylation via glycine cleavage system

Molecular functions

• transaminase activity
• aminomethyltransferase activity

Cellular components

• glycine cleavage complex
• mitochondrial matrix
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• GCVT, N-terminal domain
• Aminomethyltransferase, C-terminal domain
• Aminomethyltransferase superfamily
• Aminomethyltransferase-like
• Glycine cleavage T-protein/YgfZ, C-terminal
• GCVT N-terminal domain
• Glycine cleavage T-protein C-terminal barrel domain
• Glycine cleavage system T protein

KeywordsUniProt

• Aminotransferase
• Mitochondrion
• Transferase
• Transit peptide