GCSH (glycine cleavage system protein H)

2021-06-01  

Identity

HGNC
LOCATION
16q23.2
LOCUSID
ALIAS
GCE,NKH

Other Information

Locus ID:

NCBI: 2653
MIM: 238330
HGNC: 4208
Ensembl: ENSG00000140905

Variants:

dbSNP: 2653
ClinVar: 2653
TCGA: ENSG00000140905
COSMIC: GCSH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140905ENST00000315467P23434
ENSG00000140905ENST00000561801H3BUH9
ENSG00000140905ENST00000564386H3BUG8
ENSG00000140905ENST00000564477H3BPF0
ENSG00000140905ENST00000566566H3BNV1
ENSG00000140905ENST00000569885H3BQ30
ENSG00000140905ENST00000639169A0A1W2PNX3
ENSG00000140905ENST00000639689A0A1W2PQX3
ENSG00000140905ENST00000640150A0A1W2PQV2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glyoxylate and dicarboxylate metabolismKEGGko00630
Glycine, serine and threonine metabolismKEGGhsa00260
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661
Glycine degradationREACTOMER-HSA-6783984

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
164504032006Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.22
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.9
252313682014Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.7
303375572018GCSH antisense regulation determines breast cancer cells' viability.2
124022632002Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.1
215394572011Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.1
192992302009Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.0

Citation

Dessen P

GCSH (glycine cleavage system protein H)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58167/gcsh