ID:GCSH_HUMAN DESCRIPTION: RecName: Full=Glycine cleavage system H protein, mitochondrial; Flags: Precursor; FUNCTION: The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine group of glycine from the P protein to the T protein. COFACTOR: Binds 1 lipoyl cofactor covalently. SUBUNIT: The glycine cleavage system is composed of four proteins: P, T, L and H. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in GCSH are a cause of non-ketotic hyperglycinemia (NKH) [MIM:605899]; also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. SIMILARITY: Belongs to the GcvH family. SIMILARITY: Contains 1 lipoyl-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GCSH"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gcsh/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P23434
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004047 aminomethyltransferase activity GO:0005515 protein binding
Biological Process: GO:0006546 glycine catabolic process GO:0009249 protein lipoylation GO:0019464 glycine decarboxylation via glycine cleavage system GO:0032259 methylation
LP896043 - Sequence 907 from Patent EP3253886. BC000790 - Homo sapiens glycine cleavage system protein H (aminomethyl carrier), mRNA (cDNA clone MGC:5190 IMAGE:3451361), complete cds. BC009065 - Homo sapiens glycine cleavage system protein H (aminomethyl carrier), mRNA (cDNA clone IMAGE:3872097). D00723 - Homo sapiens mRNA for hydrogen carrier protein, a component of an enzyme complex, glycine synthase (EC 2.1.2.10). M69175 - Human H-protein mRNA, complete cds. BC020922 - Homo sapiens glycine cleavage system protein H (aminomethyl carrier), mRNA (cDNA clone MGC:24621 IMAGE:4247157), complete cds. JD350480 - Sequence 331504 from Patent EP1572962. JD087342 - Sequence 68366 from Patent EP1572962. JD410946 - Sequence 391970 from Patent EP1572962. JD168347 - Sequence 149371 from Patent EP1572962. AY533031 - Homo sapiens mitochondrial glycine cleavage system H-protein precursor mRNA, partial cds; nuclear gene for mitochondrial product. AK311978 - Homo sapiens cDNA, FLJ92251, Homo sapiens glycine cleavage system protein H (aminomethyl carrier) (GCSH), mRNA. KJ896874 - Synthetic construct Homo sapiens clone ccsbBroadEn_06268 GCSH gene, encodes complete protein. BT009827 - Homo sapiens glycine cleavage system protein H (aminomethyl carrier) mRNA, complete cds. CR457072 - Homo sapiens full open reading frame cDNA clone RZPDo834H017D for gene GCSH, glycine cleavage system protein H (aminomethyl carrier); complete cds, incl. stopcodon. KJ901449 - Synthetic construct Homo sapiens clone ccsbBroadEn_10843 GCSH gene, encodes complete protein.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P23434 (Reactome details) participates in the following event(s):
R-HSA-6793590 LIPT2 transfers octanoyl group to GCSH R-HSA-6792572 LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs R-HSA-6793591 LIAS:2(4Fe-4S) transforms octanoyl-K107-GCSH to lipoyl-K107-GCSH R-HSA-5693967 GLDC dimer:2xPXLP decarboxylates Gly R-HSA-5694018 DLD dimer:2xFAD oxidises GCSH:DHLL to GCSH:lipoate R-HSA-5693977 AMT transfers NH2CH2 from GCSH:SAMDLL to THF R-HSA-389661 Glyoxylate metabolism and glycine degradation R-HSA-6783984 Glycine degradation R-HSA-71291 Metabolism of nitrogenous molecules R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
