Property Summary

NCBI Gene PubMed Count 28
PubMed Score 154.46
PubTator Score 53.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Nonketotic Hyperglycinemia 3
Disease Target Count P-value
non-small cell lung cancer 2798 1.28270969426781E-13
ulcerative colitis 2087 1.04092065744263E-6
adrenocortical carcinoma 1427 2.86696331287385E-6
atypical teratoid/rhabdoid tumor 1095 4.5438576459952E-5
interstitial cystitis 2299 5.5485815501343E-5
osteosarcoma 7933 0.00171891877355647
primary pancreatic ductal adenocarcinoma 1271 0.00591467339414928
pancreatic cancer 2300 0.00631871412430853
primary Sjogren syndrome 789 0.0142368331952775
Breast cancer 3099 0.0382297880111965
Disease Target Count Z-score Confidence
Crohn's disease 304 0.0 2.0
Disease Target Count Z-score Confidence
Familial lipoprotein lipase deficiency 3 3.439 1.7
Disease Target Count
Glycine encephalopathy 28
Disease Target Count
Non-ketotic hyperglycinemia 3

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -1.400 0.002
adrenocortical carcinoma -1.731 0.000
primary pancreatic ductal adenocarcinoma -1.275 0.006
non-small cell lung cancer -1.045 0.000
Breast cancer -2.400 0.038
interstitial cystitis -1.200 0.000
atypical teratoid/rhabdoid tumor -1.100 0.000
primary Sjogren syndrome -1.200 0.014
ulcerative colitis -1.200 0.000
pancreatic cancer -1.200 0.006

Synonym

Accession P48728 A8K3I5 B4DE61 B4DJQ0 E9PBG1 Q96IG6
Symbols GCE
NKH
GCST
GCVT

Gene

AMT

PANTHER Protein Class (2)

PDB

1WSR   1WSV  

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly EggNOG Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (15)

PMID Text
25231368 Data indicate no mutation was found in glycine cleavage system protein-H (GCSH) and suggest that mutations in both glycine decarboxylase (GLDC) and aminomethyltransferase (AMT) are the main cause of glycine encephalopathy in Malaysian population.
22404213 Knockdown of aminomethyltransferase (AMT) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells
22171071 Two unique non-synonymous changes were identified in the AMT gene in patients with neural tube defects.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20307617 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19367581 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
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AA Sequence

MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHL      1 - 70
HTRQHCSLFDVSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHL     71 - 140
YVVSNAGCWEKDLALMQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVM    141 - 210
EVFGVSGCRVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEH    211 - 280
TTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSG    281 - 350
CPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYYTLK                     351 - 403
//

Text Mined References (31)

PMID Year Title
26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.
25231368 2014 Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22171071 2012 Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20307617 2010 Association analysis of 3p21 with Crohn's disease in a New Zealand population.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
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