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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]
GCSH (Glycine Cleavage System Protein H) is a Protein Coding gene. Diseases associated with GCSH include Glycine Encephalopathy and Atypical Glycine Encephalopathy. Among its related pathways are Glyoxylate and dicarboxylate metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include enzyme binding and aminomethyltransferase activity. An important paralog of this gene is ENSG00000284512.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004047 | aminomethyltransferase activity | TAS | 3348809 |
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,TAS | 3348809 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005960 | glycine cleavage complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Glyoxylate metabolism and glycine degradation | ||
3 | Carbon metabolism | ||
4 | Glycine, serine and threonine metabolism | ||
5 | Glyoxylate and dicarboxylate metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006546 | glycine catabolic process | TAS | 1671321 |
GO:0009249 | protein lipoylation | IDA | 1671321 |
GO:0019464 | glycine decarboxylation via glycine cleavage system | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glycine | Approved, Vet_approved | Nutra | Agonist, Full agonist, Enzyme, substrate | 196 | ||
Ammonia | Approved | Pharma | 0 | |||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Lipoic acid | Approved, Investigational | Nutra | 0 | |||
NADH | Approved | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
5,10-Methylene-THF |
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31690-11-6 |
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Hydrogen Ion |
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This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GCSH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GCSH 31 |
|
OneToMany | |
LOC101905887 30 |
|
||||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | GCSH 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GCSH 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gcsh 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gcsh 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
GCSH 30 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | GCSH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gcsh 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gcsha 30 |
|
||
gcshb 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006548 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | ppl 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F52A8.5 30 31 32 |
|
OneToMany | |
gcsh-1 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCV3 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A03597g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR396W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G35120 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0170100 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gcv3 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08877 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
647095 | Uncertain Significance: Non-ketotic hyperglycinemia | 81,096,190(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
654342 | Uncertain Significance: Non-ketotic hyperglycinemia | 81,096,257(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
695849 | Likely Benign: not provided | 81,096,246(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
699808 | Likely Benign: Non-ketotic hyperglycinemia | 81,096,207(-) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
701349 | Likely Benign: not provided | 81,084,491(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1003113 | CNV | deletion | 20482838 |
esv1126856 | CNV | deletion | 17803354 |
esv2127465 | CNV | deletion | 18987734 |
esv2422360 | CNV | duplication | 17116639 |
esv2490578 | CNV | deletion | 19546169 |
esv2714774 | CNV | deletion | 23290073 |
esv2751615 | CNV | gain | 17911159 |
esv3553747 | CNV | deletion | 23714750 |
esv3639309 | CNV | loss | 21293372 |
esv6143 | CNV | loss | 19470904 |
nsv1062724 | CNV | gain | 25217958 |
nsv1067144 | CNV | loss | 25217958 |
nsv1070359 | CNV | deletion | 25765185 |
nsv1127517 | CNV | deletion | 24896259 |
nsv1138468 | CNV | deletion | 24896259 |
nsv958835 | CNV | deletion | 24416366 |
nsv978006 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycine encephalopathy |
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atypical glycine encephalopathy |
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cutis laxa, autosomal dominant 3 |
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cutis laxa, autosomal dominant 1 |
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cutis laxa, autosomal dominant 2 |
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