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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

HGNC:4298

JoGo

GLB1

TogoVar

GLB1

Annotation

Keyword

3D-structure
Alternative splicing
Cytoplasm
Direct protein sequencing
Disease variant
Disulfide bond
Gangliosidosis
Glycoprotein
Glycosidase
Lysosome
Mucopolysaccharidosis
Proteomics identification
Reference proteome
Signal
Zymogen

Proteins

Displaying **all 3** entries
UniProt	Protein Name
E7EQ29
P16278	Acid beta-galactosidase Elastin receptor 1
B7Z6Q5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
carbohydrate metabolic process	IDA
carbohydrate metabolic process	IEA
glycoprotein catabolic process	IMP
glycoprotein catabolic process	IEA
ganglioside catabolic process	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

keratan sulfate proteoglycan metabolic process [inference]

keratan sulfate proteoglycan catabolic process

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

primary metabolic process [inference]

carbohydrate metabolic process

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process [inference]

galactose catabolic process

hexose catabolic process [inference]

galactose catabolic process

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

keratan sulfate proteoglycan metabolic process [inference]

keratan sulfate proteoglycan catabolic process

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process [inference]

galactose catabolic process

hexose catabolic process [inference]

galactose catabolic process

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

keratan sulfate proteoglycan metabolic process [inference]

keratan sulfate proteoglycan catabolic process

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process

proteoglycan catabolic process [inference]

keratan sulfate proteoglycan catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to cortisone

response to chemical [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to cortisone

response to lipid [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid [inference]

response to cortisone

response to oxygen-containing compound [inference]

response to alcohol [inference]

response to cortisone

response to ketone [inference]

response to cortisone

response to Thyroglobulin triiodothyronine

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
extracellular region	IEA
cytoplasm	IDA
cytoplasm	IEA
lysosome	EXP

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

ficolin-1-rich granule lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole

lytic vacuole [inference]

lysosome

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole

lytic vacuole [inference]

lysosome

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

perinuclear region of cytoplasm

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
beta-galactosidase activity	EXP
beta-galactosidase activity	TAS
beta-galactosidase activity	IDA
beta-galactosidase activity	IMP

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds

galactosidase activity [inference]

beta-galactosidase activity

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

carbohydrate derivative binding [inference]

galactoside binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

beta-galactosidase

Functional Category

G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
beta-galactosidase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity

Displaying **all 4** entries
InterPro
Galactose-binding-like domain superfamily
Glycoside hydrolase 35, catalytic domain
Glycoside hydrolase superfamily
Glycoside hydrolase, family 35

Human Protein Atlas

ENSG00000170266

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12309

Name

beta-galactosidase [EC:3.2.1.23]

References

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R06010	3.2.1.23	G48558GR	G79389NT

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0080489	GM1 gangliosidosis type 3	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA	Glyco-Disease Genes Database
DOID:0111392	mucopolysaccharidosis type IVB	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12804	mucopolysaccharidosis IV	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **149** in total

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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
OMIM:230600	GM1 gangliosidosis type 2
OMIM:230650	GM1 gangliosidosis type 3
OMIM:253010	mucopolysaccharidosis type 4B
OMIM:230500	GM1 gangliosidosis type 1
ORPHA:79255	GM1 gangliosidosis type 1

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP006644
Gene Name: galactosidase, beta 1

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements