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 11 - 20 of 416 in total
DO ID Disease Name Source
DOID:0050753 cerebellar ataxia
DOID:0050782 Zollinger-Ellison syndrome
DOID:0050789 tarsal-carpal coalition syndrome
DOID:0050835 generalized dystonia
DOID:0050841 focal hand dystonia
DOID:0060058 lymphoma
DOID:0060185 Clostridium difficile colitis
DOID:0060192 Crohn's colitis
DOID:0060215 Balo concentric sclerosis
DOID:0060249 scoliosis
The Human Phenotype Ontology
Displaying entries 141 - 149 of 149 in total
HPO ID HPO Term
HP:0011951 Aspiration pneumonia
HP:0011968 Feeding difficulties
HP:0012069 Keratan sulfate excretion in urine
HP:0012070 Chondroitin sulfate excretion in urine
HP:0012307 Spatulate ribs
HP:0012368 Flat face
HP:0012753 T2 hypointense basal ganglia
HP:0100767 Abnormal placenta morphology
HP:3000050 Abnormal odontoid tissue morphology
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