GLB1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression often with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA069503 , CAB008382
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

GLB1 (HGNC Symbol)

Synonyms

EBP, ELNR1

Description

Galactosidase, beta 1 (HGNC Symbol)

Entrez gene summary

This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Chromosome

3

Cytoband

p22.3

Chromosome location (bp)

32996608 - 33097230

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000170266 (version 78.38)

Entrez gene

2720

UniProt

P16278 (UniProt - Evidence at protein level)

neXtProt

NX_P16278

Antibodypedia

GLB1 antibodies


PROTEIN BROWSER

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ENST00000307363
 
ENST00000307377
 
ENST00000399402
 
ENST00000415454
 
ENST00000436768
 
ENST00000440656
 
ENST00000450835
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GLB1-001 ENSP00000306920
ENST00000307363
P16278
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Show » Show » 677 76 Yes 0
GLB1-002 ENSP00000382333
ENST00000399402
P16278
Show all »
Show » Show » 647 72.7 No 0
GLB1-003 ENSP00000305920
ENST00000307377
E7EQ29
Show all »
Show » Show » 546 60.5 Yes 0
GLB1-004 ENSP00000387989
ENST00000436768
C9JWX1
Show all »
Show » Show » 147 17.5 Yes 0
GLB1-005 ENSP00000403264
ENST00000450835
C9JF15
Show all »
Show » Show » 102 12.4 No 0
GLB1-009 ENSP00000411813
ENST00000415454
C9J4G9
Show all »
Show » Show » 185 20.6 Yes 0
GLB1-020 ENSP00000411769
ENST00000440656
C9J539
Show all »
Show » Show » 114 12.8 No 0