GCAT (glycine C-acetyltransferase)

2007-02-01  

Identity

HGNC
GCAT
LOCATION
22q13.1
LOCUSID
23464
ALIAS
KBL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23464
MIM: 607422
HGNC: 4188
Ensembl: ENSG00000100116

Variants:

dbSNP: 23464
ClinVar: 23464
TCGA: ENSG00000100116
COSMIC: GCAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100116ENST00000248924O75600
ENSG00000100116ENST00000323205O75600
ENSG00000100116ENST00000426858F2Z340
ENSG00000100116ENST00000445195C9IZC9
ENSG00000100116ENST00000451984H7BZ75

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Glycine, serine and threonine metabolismKEGGhsa00260
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Threonine catabolismREACTOMER-HSA-8849175

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 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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
121749082002Effect of four genes (ALDH1, NRF1, JAM and KBL) on proliferation arrest in a non-small cell bronchopulmonary cancer line.1
121749082002Effect of four genes (ALDH1, NRF1, JAM and KBL) on proliferation arrest in a non-small cell bronchopulmonary cancer line.1

Citation

Dessen P

GCAT (glycine C-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45940/haematological-explorer/css/js/lib/popper.js