Property Summary

NCBI Gene PubMed Count 18
PubMed Score 36.69
PubTator Score 25.68

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P23434 Q9H1E9
Symbols GCE
NKH

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (6)

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.
21539457 There is no detectable glycine cleavage enzyme activity in human skin fibroblasts.
19844255 Observational study of gene-disease association. (HuGE Navigator)
19299230 Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system.
16450403 Observational study of genotype prevalence. (HuGE Navigator)
12402263 Heterozygous GCSH gene mutation in transient neonatal hyperglycinemia.

AA Sequence

MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWVTTENGIGTVG      1 - 70
ISNFAQEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYE     71 - 140
DGWLIKMTLSNPSELDELMSEEAYEKYIKSIEE                                         141 - 173
//

Text Mined References (21)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
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.
21539457 2011 Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.
21269460 2011 Initial characterization of the human central proteome.
19844255 2010 Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
19299230 2009 Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.
16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
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.
11752456 2001 Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver.
11450847 2001 Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
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.
3348809 1988 Cloning of cDNA encoding human H-protein, a constituent of the glycine cleavage system.
2025283 1991 The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning.
1671321 1991 The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.