Homo sapiens Protein: AMT
Summary
InnateDB Protein IDBP-377235.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMT
Protein Name aminomethyltransferase
Synonyms GCE; GCST; GCVT; NKH;
Species Homo sapiens
Ensembl Protein ENSP00000415619
InnateDB Gene IDBG-34823 (AMT)
Protein Structure
UniProt Annotation
Function The glycine cleavage system catalyzes the degradation of glycine.
Subcellular Localization Mitochondrion.
Disease Associations Non-ketotic hyperglycinemia (NKH) [MIM:605899]: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. {ECO:0000269PubMed:10873393, ECO:0000269PubMed:11286506, ECO:0000269PubMed:8005589, ECO:0000269PubMed:9600239, ECO:0000269PubMed:9621520}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 1 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004047 aminomethyltransferase activity
GO:0008483 transaminase activity
Biological Process
GO:0006546 glycine catabolic process
GO:0032259 methylation
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR006222 Glycine cleavage T-protein, N-terminal
IPR013977 Glycine cleavage T-protein, C-terminal barrel domain
IPR028896 Aminomethyltransferase/Dimethylsulfonioproprionate demethylase DmdA
IPR029043 Glycine cleavage T-protein/YgfZ, C-terminal domain
PFAM PF01571
PF08669
PRINTS
PIRSF PIRSF006487
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P48728
PhosphoSite PhosphoSite-P48728
TrEMBL
UniProt Splice Variant
Entrez Gene 275
UniGene Hs.102
RefSeq NP_001158182
HUGO HGNC:473
OMIM 238310
CCDS CCDS54584
HPRD 01997
IMGT
EMBL AC104452 AK290600 AK293481 AK296177 BC007546 CH471055 D13811 D14686
GenPept AAH07546 BAA02967 BAA03512 BAF83289 BAG56972 BAG58912 EAW64984