GCSH (glycine cleavage system protein H)

2021-06-01  

Identity

HGNC
GCSH
LOCATION
16q23.2
LOCUSID
2653
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
361905152023Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.1
361905152023Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.1
338902912021Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.3
338902912021Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.3
303375572018GCSH antisense regulation determines breast cancer cells' viability.13
303375572018GCSH antisense regulation determines breast cancer cells' viability.13
252313682014Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.13
252313682014Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.13
215394572011Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.1
215394572011Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.1
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.10
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.10
192992302009Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.0
192992302009Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.0
164504032006Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.32

Citation

Dessen P

GCSH (glycine cleavage system protein H)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

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