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
380128122024Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.0
380128122024Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.0
364564712023Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.4
364564712023Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.4
346337402022A family study implicates GBE1 in the etiology of autism spectrum disorder.1
346337402022A family study implicates GBE1 in the etiology of autism spectrum disorder.1
331414442021GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.11
331414442021GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.11
324398982020Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma.37
324398982020Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma.37
312211502019Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity.31
312211502019Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity.31
266705852016Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.0
271074562016A novel GBE1 gene variant in a child with glycogen storage disease type IV.4
266705852016Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.0

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