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GLB1

GENERAL INFORMATION

Gene name

 GLB1

Gene description

 Galactosidase, beta 1

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression often with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA069503 , CAB008382
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GLB1 (HGNC Symbol)

Synonyms

 EBP, ELNR1

Description

 Galactosidase, beta 1 (HGNC Symbol)

Entrez gene summary

 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 enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

Chromosome

 3

Cytoband

 p22.3

Chromosome location (bp)

 32996608 - 33097230

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000170266 (version 83.38)

Entrez gene

 2720

UniProt

 P16278 (UniProt - Evidence at protein level)

neXtProt

 NX_P16278

Antibodypedia

 GLB1 antibodies

PROTEIN BROWSER
GLB1-001
GLB1-002
GLB1-003
GLB1-004
GLB1-005
GLB1-009
GLB1-020

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GLB1-001
ENSP00000306920
ENST00000307363
P16278 [Direct mapping]
Beta-galactosidase
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Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0004565 [beta-galactosidase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005975 [carbohydrate metabolic process]
GO:0006027 [glycosaminoglycan catabolic process]
GO:0006488 [dolichol-linked oligosaccharide biosynthetic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0016936 [galactoside binding]
GO:0018279 [protein N-linked glycosylation via asparagine]
GO:0019388 [galactose catabolic process]
GO:0030203 [glycosaminoglycan metabolic process]
GO:0042339 [keratan sulfate metabolic process]
GO:0042340 [keratan sulfate catabolic process]
GO:0043202 [lysosomal lumen]
GO:0043687 [post-translational protein modification]
GO:0044262 [cellular carbohydrate metabolic process]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0070062 [extracellular exosome]
Show all
 677 aa
76 kDa 		Yes 0
GLB1-002
ENSP00000382333
ENST00000399402
P16278 [Direct mapping]
Beta-galactosidase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0004565 [beta-galactosidase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005975 [carbohydrate metabolic process]
GO:0006027 [glycosaminoglycan catabolic process]
GO:0006488 [dolichol-linked oligosaccharide biosynthetic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0018279 [protein N-linked glycosylation via asparagine]
GO:0030203 [glycosaminoglycan metabolic process]
GO:0042339 [keratan sulfate metabolic process]
GO:0042340 [keratan sulfate catabolic process]
GO:0043202 [lysosomal lumen]
GO:0043687 [post-translational protein modification]
GO:0044262 [cellular carbohydrate metabolic process]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0070062 [extracellular exosome]
Show all
 647 aa
72.7 kDa 		No 0
GLB1-003
ENSP00000305920
ENST00000307377
E7EQ29 [Direct mapping]
Beta-galactosidase
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004565 [beta-galactosidase activity]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005975 [carbohydrate metabolic process]
Show all
 546 aa
60.5 kDa 		Yes 0
GLB1-004
ENSP00000387989
ENST00000436768
C9JWX1 [Direct mapping]
Beta-galactosidase
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 147 aa
17.5 kDa 		Yes 0
GLB1-005
ENSP00000403264
ENST00000450835
C9JF15 [Direct mapping]
Beta-galactosidase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 102 aa
12.4 kDa 		No 0
GLB1-009
ENSP00000411813
ENST00000415454
C9J4G9 [Direct mapping]
Beta-galactosidase
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 185 aa
20.6 kDa 		Yes 0
GLB1-020
ENSP00000411769
ENST00000440656
C9J539 [Direct mapping]
Beta-galactosidase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 114 aa
12.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.