Property Summary

NCBI Gene PubMed Count 28
PubMed Score 154.46
PubTator Score 53.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -1.400 1.7e-03
adrenocortical carcinoma -1.731 2.9e-06
primary pancreatic ductal adenocarcinoma -1.275 5.9e-03
non-small cell lung cancer -1.045 1.3e-13
Breast cancer -2.400 3.8e-02
interstitial cystitis -1.200 5.5e-05
atypical teratoid/rhabdoid tumor -1.100 4.5e-05
primary Sjogren syndrome -1.200 1.4e-02
ulcerative colitis -1.200 1.0e-06
pancreatic cancer -1.200 6.3e-03

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)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19161160 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
16450403 Observational study of genotype prevalence. (HuGE Navigator)
16051266 x-ray crystallographic structure of human T-protein of glycine cleavage system

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.
19416867 2009 The transcriptome of human CD34+ hematopoietic stem-progenitor cells.
19367581 2010 Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19161160 2009 An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11286506 2001 Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
9600239 1998 A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
8188235 1994 Structure and chromosomal localization of the aminomethyltransferase gene (AMT)
8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
7916605 1993 Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system.
6790577 1981 Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.
6111451 1981 Influence of phenothiazines or reserpine on the formation of 14C-glycine from U-14C-serine.
1993704 1991 The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures.