GBE1 (1,4-alpha-glucan branching enzyme 1)

2014-11-01  

Identity

HGNC
GBE1
LOCATION
3p12.2
LOCUSID
2632
ALIAS
APBD,GBE,GSD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2632
MIM: 607839
HGNC: 4180
Ensembl: ENSG00000114480

Variants:

dbSNP: 2632
ClinVar: 2632
TCGA: ENSG00000114480
COSMIC: GBE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114480ENST00000429644Q04446
ENSG00000114480ENST00000489715E9PGM4

Expression (GTEx)

0
50
100
150
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
Starch and sucrose metabolismKEGGko00500
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203001972010Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208161952010Analyses of shared genetic factors between asthma and obesity in children.43
154522972004Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).24
145578722003Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.21
230349152012Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.20
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
256651412015Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.10

Citation

Dessen P

GBE1 (1,4-alpha-glucan branching enzyme 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63722/gbe1