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 31 - 40 of 416 in total
DO ID Disease Name Source
DOID:0060584 Noonan syndrome 6
DOID:0060585 Noonan syndrome 7
DOID:0060586 Noonan syndrome 8
DOID:0060587 Noonan syndrome 9
DOID:0060588 Noonan syndrome 10
DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I
DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II
DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome
DOID:0060764 autosomal recessive Robinow syndrome
DOID:0060765 autosomal dominant Robinow syndrome 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 149 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000079 Abnormality of the urinary system
HP:0000154 Wide mouth
HP:0000158 Macroglossia
HP:0000160 Narrow mouth
HP:0000212 Gingival overgrowth
HP:0000280 Coarse facial features
HP:0000303 Mandibular prognathia
HP:0000316 Hypertelorism
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