AMT (aminomethyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
GCE,GCST,GCVT,NKH
FUSION GENES

Other Information

Locus ID:

NCBI: 275
MIM: 238310
HGNC: 473
Ensembl: ENSG00000145020

Variants:

dbSNP: 275
ClinVar: 275
TCGA: ENSG00000145020
COSMIC: AMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145020ENST00000273588P48728
ENSG00000145020ENST00000273588A0A024R2U7
ENSG00000145020ENST00000395338P48728
ENSG00000145020ENST00000399379F8WF62
ENSG00000145020ENST00000427987H0Y695
ENSG00000145020ENST00000430521C9JXJ4
ENSG00000145020ENST00000458307P48728
ENSG00000145020ENST00000462048A0A1B0GVD0
ENSG00000145020ENST00000538581B3KTU4
ENSG00000145020ENST00000635808A0A1B0GTA8
ENSG00000145020ENST00000636023A0A1B0GU55
ENSG00000145020ENST00000636070C9JXJ4
ENSG00000145020ENST00000636188A0A1B0GV07
ENSG00000145020ENST00000636199A0A1B0GWC4
ENSG00000145020ENST00000636522P48728
ENSG00000145020ENST00000636597A0A1B0GUU7
ENSG00000145020ENST00000636865A0A1B0GVP5
ENSG00000145020ENST00000637059A0A1B0GUK9
ENSG00000145020ENST00000637455A0A1B0GTB6
ENSG00000145020ENST00000637682A0A1B0GTV8
ENSG00000145020ENST00000637821C9JXJ4
ENSG00000145020ENST00000638063A0A1B0GTM2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glyoxylate and dicarboxylate metabolismKEGGko00630
One carbon pool by folateKEGGko00670
Glycine, serine and threonine metabolismKEGGhsa00260
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661
Glycine degradationREACTOMER-HSA-6783984

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
221710712012Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.44
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
164504032006Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.22
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
193675812010Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.13
196251762009PTEN identified as important risk factor of chronic obstructive pulmonary disease.12
273629132017The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.12

Citation

Dessen P

AMT (aminomethyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60279/amt