Entity Details

Primary name BGAL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP16278
EntryNameBGAL_HUMAN
FullNameBeta-galactosidase
TaxID9606
Evidenceevidence at protein level
Length677
SequenceStatuscomplete
DateCreated1990-08-01
DateModified2021-06-02

Ontological Relatives

GenesGLB1

GO terms

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GOName
GO:0004565 beta-galactosidase activity
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005773 vacuole
GO:0005794 Golgi apparatus
GO:0006027 glycosaminoglycan catabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0016936 galactoside binding
GO:0019388 galactose catabolic process
GO:0035578 azurophil granule lumen
GO:0042340 keratan sulfate catabolic process
GO:0042803 protein homodimerization activity
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0044262 cellular carbohydrate metabolic process
GO:0048471 perinuclear region of cytoplasm
GO:0051413 response to cortisone
GO:0070062 extracellular exosome
GO:1904016 response to Thyroglobulin triiodothyronine
GO:1904813 ficolin-1-rich granule lumen

Subcellular Location

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Subcellular Location
Cytoplasm
Lysosome

Domains

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DomainNameCategoryType
IPR001944 Glycoside hydrolase, family 35FamilyFamily
IPR008979 Galactose-binding-like domain superfamilyFamilyHomologous superfamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR019801 Glycoside hydrolase, family 35, conserved siteSiteConserved site
IPR025300 Beta-galactosidase jelly roll domainDomainDomain
IPR026283 Beta-galactosidase 1-likeFamilyFamily
IPR031330 Glycoside hydrolase 35, catalytic domainDomainDomain

Diseases

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Disease IDSourceNameDescription
253010 OMIMMucopolysaccharidosis 4B (MPS4B)A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. The disease is caused by variants affecting the gene represented in this entry.
230500 OMIMGM1-gangliosidosis 1 (GM1G1)An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. The disease is caused by variants affecting the gene represented in this entry.
230600 OMIMGM1-gangliosidosis 2 (GM1G2)A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
230650 OMIMGM1-gangliosidosis 3 (GM1G3)A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB04465 LactoseDrugbanksmall molecule