GLB1 (galactosidase beta 1)

2008-10-01  

Identity

HGNC
GLB1
LOCATION
3p22.3
LOCUSID
2720
ALIAS
EBP,ELNR1,MPS4B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2720
MIM: 611458
HGNC: 4298
Ensembl: ENSG00000170266

Variants:

dbSNP: 2720
ClinVar: 2720
TCGA: ENSG00000170266
COSMIC: GLB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170266ENST00000307363P16278
ENSG00000170266ENST00000307377E7EQ29
ENSG00000170266ENST00000399402P16278
ENSG00000170266ENST00000415454C9J4G9
ENSG00000170266ENST00000436768C9JWX1
ENSG00000170266ENST00000438227F8WEN1
ENSG00000170266ENST00000440656C9J539
ENSG00000170266ENST00000446732F8WF40
ENSG00000170266ENST00000450835C9JF15

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Galactose metabolismKEGGko00052
Other glycan degradationKEGGko00511
Glycosaminoglycan degradationKEGGko00531
Sphingolipid metabolismKEGGko00600
Glycosphingolipid biosynthesis - ganglio seriesKEGGko00604
Galactose metabolismKEGGhsa00052
Other glycan degradationKEGGhsa00511
Glycosaminoglycan degradationKEGGhsa00531
Sphingolipid metabolismKEGGhsa00600
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Keratan sulfate degradationKEGGhsa_M00079
Keratan sulfate degradationKEGGM00079
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate degradationREACTOMER-HSA-2022857
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

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
166263972006Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.245
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
185246572008GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.42
221281662012Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.32
187723312008Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2.27
259644282015Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.22
169414742006Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.16
183536972008Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.14
157145212005Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.13
258761052015Overexpression of the novel senescence marker β-galactosidase (GLB1) in prostate cancer predicts reduced PSA recurrence.13

Citation

Dessen P

GLB1 (galactosidase beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50435/glb1-(galactosidase-beta-1)