Entity Details

Primary name GCSH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP23434
EntryNameGCSH_HUMAN
FullNameGlycine cleavage system H protein, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length173
SequenceStatuscomplete
DateCreated1991-11-01
DateModified2021-06-02

Ontological Relatives

GenesGCSH

GO terms

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GOName
GO:0004047 aminomethyltransferase activity
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005960 glycine cleavage complex
GO:0006546 glycine catabolic process
GO:0009249 protein lipoylation
GO:0019464 glycine decarboxylation via glycine cleavage system

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000089 Biotin/lipoyl attachmentDomainDomain
IPR002930 Glycine cleavage system H-proteinFamilyFamily
IPR003016 2-oxo acid dehydrogenase, lipoyl-binding siteSiteBinding site
IPR011053 Single hybrid motifFamilyHomologous superfamily
IPR017453 Glycine cleavage system H-protein, subgroupFamilyFamily
IPR033753 Glycine cleavage system H-protein/SimiateFamilyFamily

Diseases

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Disease IDSourceNameDescription
605899 OMIMNon-ketotic hyperglycinemia (NKH)Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00145 GlycineDrugbanksmall molecule
DB03187 6-(Hydroxyethyldithio)-8-(Aminomethylthio)Octanoic AcidDrugbanksmall molecule
DB03760 Dihydrolipoic AcidDrugbanksmall molecule

Interactions

10 interactions