Property Summary

NCBI Gene PubMed Count 31
PubMed Score 53.73
PubTator Score 52.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
pancreatic cancer 1.500 3.4e-02
oligodendroglioma 1.200 1.3e-02
psoriasis -2.600 2.2e-25
glioblastoma 1.300 1.9e-04
group 3 medulloblastoma -2.700 1.0e-05
pancreatic ductal adenocarcinoma liver m... -2.603 7.6e-03
lung cancer 1.900 1.1e-02
pediatric high grade glioma 1.200 2.8e-03
pilocytic astrocytoma 1.800 5.6e-07
pancreatic carcinoma 1.500 3.4e-02
ovarian cancer 2.600 9.6e-05
Breast cancer 1.400 5.4e-04
pituitary cancer -1.400 9.3e-04

Synonym

Accession P23378 Q2M2F8
Symbols GCE
GCSP
HYGN1

Gene

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Protein-protein Interaction (2)

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.
23349517 study reports a novel mutation, c.2296G>T (p.Gly766Cys), in exon 19 of the glycine decarboxylase (GLDC) gene in a consanguineous Indian couple with a history of 4 neonatal deaths
22225612 Study shows that glycine metabolism and the metabolic enzyme glycine decarboxylase (GLDC) drive tumor-initiating cells and tumorigenesis in non-small cell lung cancer.
22171071 Identification of a splice acceptor site mutation and five different non-synonymous variants in GLDC were found in patients with neural tube defects.
20877624 Observational study of gene-disease association. (HuGE Navigator)
18581728 a histidine-to-aspartic acid change at amino acid position 371 (p. His371Asp mutation) in the glycine decarboxylase in a non-ketotic hyperglycemia patient.
17361008 A screening system for GLDC deletions by multiplex ligation-dependent probe amplification identified 14 deletions of different length & Alu-mediated recombination in non-ketotic hyperglycinaemia patients.
16601880 forty different gene alterations in the GLDC gene were identified in patients with glycine encephalopathy
16450403 Observational study of genotype prevalence. (HuGE Navigator)
16404748 the nonketotic hyperglycinemia is due to a novel GLDC mutation.
15864413 Single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is associated with glycine encephalopathy
15851735 The mutation in this nonketotic hyperglycinemia kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression.
15824356 Three adults with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase mutations; two novel missense mutations were found.
14552331 Missense and nonsense mutations found in glycine encephalopathy
12402263 Heterozygous GLDC gene mutation in transient neonatal hyperglycinemia.

AA Sequence

MQSCARAWGLRLGRGVGGGRRLAGGSGPCWAPRSRDSSSGGGDSAAAGASRLLERLLPRHDDFARRHIGP      1 - 70
GDKDQREMLQTLGLASIDELIEKTVPANIRLKRPLKMEDPVCENEILATLHAISSKNQIWRSYIGMGYYN     71 - 140
CSVPQTILRNLLENSGWITQYTPYQPEVSQGRLESLLNYQTMVCDITGLDMANASLLDEGTAAAEALQLC    141 - 210
YRHNKRRKFLVDPRCHPQTIAVVQTRAKYTGVLTELKLPCEMDFSGKDVSGVLFQYPDTEGKVEDFTELV    211 - 280
ERAHQSGSLACCATDLLALCILRPPGEFGVDIALGSSQRFGVPLGYGGPHAAFFAVRESLVRMMPGRMVG    281 - 350
VTRDATGKEVYRLALQTREQHIRRDKATSNICTAQALLANMAAMFAIYHGSHGLEHIARRVHNATLILSE    351 - 420
GLKRAGHQLQHDLFFDTLKIQCGCSVKEVLGRAAQRQINFRLFEDGTLGISLDETVNEKDLDDLLWIFGC    421 - 490
ESSAELVAESMGEECRGIPGSVFKRTSPFLTHQVFNSYHSETNIVRYMKKLENKDISLVHSMIPLGSCTM    491 - 560
KLNSSSELAPITWKEFANIHPFVPLDQAQGYQQLFRELEKDLCELTGYDQVCFQPNSGAQGEYAGLATIR    561 - 630
AYLNQKGEGHRTVCLIPKSAHGTNPASAHMAGMKIQPVEVDKYGNIDAVHLKAMVDKHKENLAAIMITYP    631 - 700
STNGVFEENISDVCDLIHQHGGQVYLDGANMNAQVGICRPGDFGSDVSHLNLHKTFCIPHGGGGPGMGPI    701 - 770
GVKKHLAPFLPNHPVISLKRNEDACPVGTVSAAPWGSSSILPISWAYIKMMGGKGLKQATETAILNANYM    771 - 840
AKRLETHYRILFRGARGYVGHEFILDTRPFKKSANIEAVDVAKRLQDYGFHAPTMSWPVAGTLMVEPTES    841 - 910
EDKAELDRFCDAMISIRQEIADIEEGRIDPRVNPLKMSPHSLTCVTSSHWDRPYSREVAAFPLPFVKPEN    911 - 980
KFWPTIARIDDIYGDQHLVCTCPPMEVYESPFSEQKRASS                                  981 - 1020
//

Text Mined References (36)

PMID Year Title
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.
23349517 2014 A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
22699663 2012 Genome-wide association study of periodontal pathogen colonization.
22225612 2012 Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis.
22171071 2012 Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18581728 Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.
18088087 2008 Phosphoproteome of resting human platelets.
17361008 2007 Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
16601880 2006 Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
16482509 2006 Binding specificity of Toll-like receptor cytoplasmic domains.
16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
16404748 2006 Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15864413 2005 A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
15851735 2005 Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
15824356 2005 Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14552331 2003 Gene Symbol: GLDC. Disease: NKH glycine encephalopathy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12402263 2002 Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
11592811 Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
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.
10798358 2000 Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.
6790577 1981 Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.
6778858 1980 Purification and properties of glycine decarboxylase, a component of the glycine cleavage system, from rat liver mitochondria and immunochemical comparison of this enzyme from various sources.
2773994 1989 Nonketotic hyperglycinemia in a patient with the 9p- syndrome.
2268343 1990 One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia.
1996985 1991 Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.
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.
1634607 1992 Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.