GBA3 (glucosylceramidase beta 3 (gene/pseudogene))

2014-11-01 Affiliation

Identity

HGNC

GBA3

LOCATION

4p15.2

LOCUSID

57733

ALIAS

CBG,CBGL1,GLUC,KLRP

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57733
MIM: 606619
HGNC: 19069
Ensembl: ENSG00000249948

Variants:

dbSNP: 57733
ClinVar: 57733
TCGA: ENSG00000249948
COSMIC: GBA3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000249948	ENST00000610628	A0A087WTY7
ENSG00000249948	ENST00000613293	A0A087WWR5

Expression (GTEx)

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

Pathway	Source	External ID
Starch and sucrose metabolism	KEGG	ko00500
Starch and sucrose metabolism	KEGG	hsa00500
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662

References

Pubmed ID	Year	Title	Citations
20728381	2011	The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.	17
20728381	2011	The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.	17
17555766	2007	The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase.	13
18662675	2008	Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase.	4
26193330	2015	Co-Expression of NEU2 and GBA3 Causes a Drastic Reduction in Cytosolic Sialyl Free N-glycans in Human MKN45 Stomach Cancer Cells-Evidence for the Physical Interaction of NEU2 and GBA3.	3

Citation

Dessen P

GBA3 (glucosylceramidase beta 3 (gene/pseudogene))

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63720/gba3