galactosidase beta 1

Summary
Gene Symbol
  • GLB1
Aliases
  • EBP
  • elastin binding protein
Organism
Homo sapiens (human)
External Links
NCBI Gene
2720
HGNC
4298
KEGG Gene ID
hsa:2720
PubChem
2720
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Gangliosidosis
  • Glycoprotein
  • Glycosidase
  • Lysosome
  • Mucopolysaccharidosis
  • Reference proteome
  • Signal
  • Zymogen
Proteins
Displaying all 2 entries
UniProt Protein Name
B7Z6Q5
P16278
  • Acid beta-galactosidase
  • Elastin receptor 1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000170266

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12309
Name
beta-galactosidase [EC:3.2.1.23]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R06010
Disease
Disease Ontology
Displaying entries 61 - 70 of 416 in total
DO ID Disease Name Source
DOID:0080540 galactosialidosis
DOID:0090004 progressive pseudorheumatoid arthropathy of childhood
DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
DOID:0110043 Alzheimer's disease 10
DOID:0110044 Alzheimer's disease 11
The Human Phenotype Ontology
Displaying entries 41 - 50 of 149 in total
HPO ID HPO Term
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001256 Intellectual disability, mild
HP:0001257 Spasticity
HP:0001260 Dysarthria
HP:0001263 Global developmental delay
HP:0001276 Hypertonia
HP:0001288 Gait disturbance
HP:0001290 Generalized hypotonia
HP:0001332 Dystonia
Displaying all 5 entries
Disease ID Disease Name
ORPHA:79255
  • GM1 gangliosidosis type 1
OMIM:230600
  • GM1 gangliosidosis type 2
OMIM:230500
  • GM1 gangliosidosis type 1
OMIM:230650
  • GM1 gangliosidosis type 3
OMIM:253010
  • mucopolysaccharidosis type 4B
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006644
Gene Name
galactosidase, beta 1

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024