MGP Database

MGP001184

Record overview

MGPD ID	MGP001184
Gene ID	2653
Species	Homo sapiens (Human)
Gene Name	glycine cleavage system protein H (aminomethyl carrier)
Gene Symbol	GCSH
Synonyms	GCE; NKH;
Alternate names	glycine cleavage system H protein, mitochondrial; lipoic acid-containing protein; mitochondrial glycine cleavage system H-protein;
Chromosome	16
Map Location	16q23.2
Summary	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
Orthologs	View orthologs and multiple alignments for GCSH

Proteins

glycine cleavage system H protein, mitochondrial precursor

Refseq ID:	NP_004474
Protein GI:	49574537
UniProt ID:	P23434
mRNA ID:	NM_004483
Length:	173
RefSeq Status:

`MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWVTTENGIGTVGISNFAQEALGDVVYCSLPEVGTKLNKQDEF GALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYEDGWLIKMTLSNPSELDELMSEEAYEKYIKSIEE`

transit_peptide: 1..48
calculated_mol_wt: 5089
peptide sequence: 
MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALL

mat_peptide: 49..173
product: glycine cleavage system H protein, mitochondrial
calculated_mol_wt: 13813
peptide sequence: 
SVRKFTEKHEWVTTENGIGTVGISNFAQEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYEDGWLIKMT
LSNPSELDELMSEEAYEKYIKSIEE