• Gene id: 2653

Gene Summary

• Gene Symbol: GCSH   Gene   UCSC   Ensembl
• Aliases: GCE, NKH
• Gene name: glycine cleavage system protein H
• Alternate names: glycine cleavage system H protein, mitochondrial, glycine cleavage system protein H (aminomethyl carrier), lipoic acid-containing protein, mitochondrial glycine cleavage system H-protein,
• Gene location: 16q23.2 (89901867: 89935613)     Exons: 9     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 238330

Protein Summary

• Protein general information: P23434  
  • Name: Glycine cleavage system H protein, mitochondrial (Lipoic acid containing protein)
  • Length: 173  
  • Mass: 18885
• Sequence:

  MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWVTTENGIGTVGISNFA
  QEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYEDGWLIKMTLS
  NPSELDELMSEEAYEKYIKSIEE

• Structural information:
  • Protein Domains: (66..14-)
    (/note="Lipoyl-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01066"-)
  • Interpro: IPR003016  IPR000089  IPR002930  IPR033753  IPR017453   IPR011053  
  • Prosite: PS50968 PS00189
  • CDD: cd06848
  • STRING: ENSP00000319531
• Other Databases: GeneCards:  GCSH  Malacards:  GCSH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009249	protein lipoylation	IDA	biological process
GO:0005960	glycine cleavage complex	IEA	cellular component
GO:0019464	glycine decarboxylation via glycine cleavage system	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004047	aminomethyltransferase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0005960	glycine cleavage complex	TAS	cellular component
GO:0006546	glycine catabolic process	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00260	Glycine, serine and threonine metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism

Diseases

Associated diseases	References
Nonketotic hyperglycinemia	KEGG:H00191
Nonketotic hyperglycinemia	KEGG:H00191
Amino acid metabolic disorder	PMID:7070876
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)