• Gene id: 2720

Gene Summary

• Gene Symbol: GLB1   Gene   UCSC   Ensembl
• Aliases: EBP, ELNR1, MPS4B
• Gene name: galactosidase beta 1
• Alternate names: beta-galactosidase, acid beta-galactosidase, elastin receptor 1, 67kDa, lactase,
• Gene location: 3p22.3 (33097229: 32996607)     Exons: 18     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzy
• OMIM: 611458

Protein Summary

• Protein general information: P16278  
  • Name: Beta galactosidase (EC 3.2.1.23) (Acid beta galactosidase) (Lactase) (Elastin receptor 1)
  • Length: 677  
  • Mass: 76,075
• Sequence:

  MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMA
  GLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSS
  DPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHK
  TFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARG
  ASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYG
  KVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGI
  PQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLG
  GWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLT
  LFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLD
  HV

• Structural information:
  • Interpro: IPR026283  IPR025300  IPR008979  IPR031330  IPR019801   IPR001944  IPR017853  
  • Prosite: PS01182
  • PDB: 3THC 3THD 3WEZ 3WF0 3WF1 3WF2 3WF3 3WF4
  • PDBsum: 3THC 3THD 3WEZ 3WF0 3WF1 3WF2 3WF3 3WF4
  • STRING: ENSP00000306920
• Other Databases: GeneCards:  GLB1  Malacards:  GLB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004308	exo-alpha-sialidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	IDA	molecular function
GO:0004565	beta-galactosidase activity	IMP	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005773	vacuole	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0016936	galactoside binding	IEA	molecular function
GO:0019388	galactose catabolic process	IEA	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044262	cellular carbohydrate metabolic process	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004308	exo-alpha-sialidase activity	TAS	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0004565	beta-galactosidase activity	IEA	molecular function
GO:0004565	beta-galactosidase activity	IEA	molecular function
GO:0004565	beta-galactosidase activity	IEA	molecular function
GO:0004565	beta-galactosidase activity	IDA	molecular function
GO:0004565	beta-galactosidase activity	IMP	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005773	vacuole	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016936	galactoside binding	IEA	molecular function
GO:0019388	galactose catabolic process	IEA	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044262	cellular carbohydrate metabolic process	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004308	exo-alpha-sialidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	IDA	molecular function
GO:0004565	beta-galactosidase activity	IMP	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0004565	beta-galactosidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005773	vacuole	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044262	cellular carbohydrate metabolic process	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome

Diseases

Associated diseases	References
GM1 gangliosidosis	OMIM: 611458
Mucopolysaccharidosis	KEGG: H00421
Mucopolysaccharidosis	KEGG: H00123
Male factor infertility	MIK: 11882018
Varicocele	MIK: 11882018
Galactosialidosis	KEGG: H00276
Glycoproteinoses	KEGG: H00422
Defects in the degradation of ganglioside	KEGG: H00426
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility with varicocele	MIK: 11882018

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11882018	Male infertility with varicocele			62 (26 infertile men with varicocele, 36 men of normal fertility)	Male infertility	acid alpha-mannosidase beta-galactosidase beta-N-acetylglucosaminidase
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq