Homo sapiens Gene: AMT
Summary
InnateDB Gene IDBG-34823.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMT
Gene Name aminomethyltransferase
Synonyms GCE; GCST; GCVT; NKH;
Species Homo sapiens
Ensembl Gene ENSG00000145020
Encoded Proteins
aminomethyltransferase
aminomethyltransferase
aminomethyltransferase
aminomethyltransferase
aminomethyltransferase
aminomethyltransferase
aminomethyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:49416778-49422753
Strand Reverse strand
Band p21.31
Transcripts
ENST00000273588 ENSP00000273588
ENST00000399379 ENSP00000399943
ENST00000395338 ENSP00000378747
ENST00000427987 ENSP00000403821
ENST00000458307 ENSP00000415619
ENST00000430521 ENSP00000388068
ENST00000465925
ENST00000476226
ENST00000476127
ENST00000495436
ENST00000473163
ENST00000491800
ENST00000487589
ENST00000461210
ENST00000478594
ENST00000480957
ENST00000493046
ENST00000485108
ENST00000476828
ENST00000462048
ENST00000498571
ENST00000538581 ENSP00000443200
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:0005737 cytoplasm
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Glycine, serine and threonine metabolism pathway
One carbon pool by folate pathway
INOH
Folate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.102
RefSeq NM_000481 NM_001164710 NM_001164711 NM_001164712
HUGO
OMIM
CCDS CCDS2797 CCDS54583 CCDS54584 CCDS54585
HPRD 01997
IMGT
EMBL
GenPept
RNA Seq Atlas