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Aliases for GLB1 Gene

Aliases for GLB1 Gene

  • Galactosidase, Beta 1 2 3
  • Elastin Receptor 1, 67kDa 2 3
  • Acid Beta-Galactosidase 3 4
  • EC 3.2.1.23 4 63
  • Lactase 3 4
  • ELNR1 3 4
  • MPS4B 3 6
  • Elastin Receptor 1 (67kD) 2
  • Beta-Galactosidase 3
  • Elastin Receptor 1 4
  • EBP 3

External Ids for GLB1 Gene

Previous HGNC Symbols for GLB1 Gene

  • ELNR1

Previous GeneCards Identifiers for GLB1 Gene

  • GC03M032344
  • GC03M032884
  • GC03M033009

Summaries for GLB1 Gene

Entrez Gene Summary for GLB1 Gene

  • 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]

GeneCards Summary for GLB1 Gene

GLB1 (Galactosidase, Beta 1) is a Protein Coding gene. Diseases associated with GLB1 include gm1-gangliosidosis, type i and gm1-gangliosidosis, type ii. Among its related pathways are Disease and Sphingolipid metabolism. GO annotations related to this gene include beta-galactosidase activity and galactoside binding. An important paralog of this gene is GLB1L2.

UniProtKB/Swiss-Prot for GLB1 Gene

  • Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans

  • Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers

Gene Wiki entry for GLB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLB1 Gene

Genomics for GLB1 Gene

Regulatory Elements for GLB1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GLB1 Gene

Start:
32,996,608 bp from pter
End:
33,097,230 bp from pter
Size:
100,623 bases
Orientation:
Minus strand

Genomic View for GLB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLB1 Gene

Proteins for GLB1 Gene

  • Protein details for GLB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16278-BGAL_HUMAN
    Recommended name:
    Beta-galactosidase
    Protein Accession:
    P16278
    Secondary Accessions:
    • B2R7H8
    • B7Z6B0
    • P16279

    Protein attributes for GLB1 Gene

    Size:
    677 amino acids
    Molecular mass:
    76075 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GLB1 Gene

    Alternative splice isoforms for GLB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLB1 Gene

Proteomics data for GLB1 Gene at MOPED

Post-translational modifications for GLB1 Gene

  • Glycosylation at Asn26, Asn247, Asn464, Asn498, Asn542, Asn545, and Asn555
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GLB1 (beta-Galactosidase-1/GLB1)

Domains for GLB1 Gene

Suggested Antigen Peptide Sequences for GLB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16278

UniProtKB/Swiss-Prot:

BGAL_HUMAN :
  • P16278
Family:
  • Belongs to the glycosyl hydrolase 35 family.
genes like me logo Genes that share domains with GLB1: view

No data available for Gene Families for GLB1 Gene

Function for GLB1 Gene

Molecular function for GLB1 Gene

GENATLAS Biochemistry: galactosidase,beta-1,lysosomal,acting or GM1 gangliosides,glycoproteins,oligosaccharides,keratan sulfate,stepwise degradation of sphingolipids,glycosaminoglycans (mucopolysaccharides),including a 67kDa enzymatically inactive alternatively spliced variant identical to elastin/laminin binding protein
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides
UniProtKB/Swiss-Prot Function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans
UniProtKB/Swiss-Prot Function: Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers

Enzyme Numbers (IUBMB) for GLB1 Gene

Gene Ontology (GO) - Molecular Function for GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004565 beta-galactosidase activity TAS 3143362
GO:0005515 protein binding IPI 15498789
GO:0016936 galactoside binding IEA --
genes like me logo Genes that share ontologies with GLB1: view
genes like me logo Genes that share phenotypes with GLB1: view

Animal Models for GLB1 Gene

MGI Knock Outs for GLB1:

Animal Model Products

CRISPR Products

miRNA for GLB1 Gene

miRTarBase miRNAs that target GLB1

No data available for Transcription Factor Targeting and HOMER Transcription for GLB1 Gene

Localization for GLB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLB1 Gene

Isoform 1: Lysosome.
Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLB1 Gene COMPARTMENTS Subcellular localization image for GLB1 gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 3
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
plasma membrane 2
endosome 1

Gene Ontology (GO) - Cellular Components for GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome --
GO:0005773 vacuole IBA --
GO:0005794 Golgi apparatus IDA --
GO:0009341 beta-galactosidase complex --
genes like me logo Genes that share ontologies with GLB1: view

Pathways for GLB1 Gene

genes like me logo Genes that share pathways with GLB1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with GLB1: view

Compounds for GLB1 Gene

(73) HMDB Compounds for GLB1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Keto-b-D-galactose
  • 3-dehydro-beta-D-galactose
Not Available
3'-Ketolactose
  • 3'-dehydro-beta-D-galactosyl-beta-D-glucopyranoside
15990-62-2
Alpha-D-Glucose
  • Hexopyranose
492-62-6
Alpha-Lactose
  • (+)-lactose
63-42-3
Beta-D-Galactose
  • Beta D-Galactose
7296-64-2

(9) Novoseek inferred chemical compound relationships for GLB1 Gene

Compound -log(P) Hits PubMed IDs
vgvapg 92 4
lactose 58.8 7
chondroitin sulfate 48.6 7
sulfatide 47.3 2
ganglioside 47.2 5
genes like me logo Genes that share compounds with GLB1: view

Transcripts for GLB1 Gene

Unigene Clusters for GLB1 Gene

Galactosidase, beta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLB1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6:

Relevant External Links for GLB1 Gene

GeneLoc Exon Structure for
GLB1
ECgene alternative splicing isoforms for
GLB1

Expression for GLB1 Gene

mRNA expression in normal human tissues for GLB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GLB1 Gene

SOURCE GeneReport for Unigene cluster for GLB1 Gene Hs.443031

genes like me logo Genes that share expressions with GLB1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GLB1 Gene

Orthologs for GLB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLB1 35
  • 99.64 (n)
  • 99.38 (a)
GLB1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLB1 35
  • 82.66 (n)
  • 79.87 (a)
GLB1 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLB1 35
  • 85.64 (n)
  • 84.72 (a)
GLB1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glb1 35
  • 80.64 (n)
  • 79.28 (a)
Glb1 16
Glb1 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLB1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLB1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glb1 35
  • 79.86 (n)
  • 78.5 (a)
chicken
(Gallus gallus)
Aves GLB1 35
  • 68.68 (n)
  • 69.43 (a)
GLB1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLB1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glb1l 35
  • 67.06 (n)
  • 69.83 (a)
zebrafish
(Danio rerio)
Actinopterygii glb1 35
  • 65.6 (n)
  • 65.81 (a)
glb1 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002056 35
  • 50.85 (n)
  • 44.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 36
  • 43 (a)
ManyToMany
Gal 36
  • 38 (a)
ManyToMany
Ect3 37
  • 42 (a)
CG9092 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea H22K11.2 36
  • 34 (a)
ManyToMany
T19B10.3 35
  • 49.72 (n)
  • 43.86 (a)
T19B10.3 36
  • 38 (a)
ManyToMany
H22K11.2 37
  • 33 (a)
T19B10.3 37
  • 40 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9073 35
thale cress
(Arabidopsis thaliana)
eudicotyledons BGAL17 35
  • 49.94 (n)
  • 44.97 (a)
rice
(Oryza sativa)
Liliopsida Os.14570 35
Os05g0539400 35
  • 50.93 (n)
  • 46.7 (a)
Species with no ortholog for GLB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLB1 Gene

ENSEMBL:
Gene Tree for GLB1 (if available)
TreeFam:
Gene Tree for GLB1 (if available)

Paralogs for GLB1 Gene

Paralogs for GLB1 Gene

Selected SIMAP similar genes for GLB1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with GLB1: view

Variants for GLB1 Gene

Sequence variations from dbSNP and Humsavar for GLB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs11545 -- 33,033,894(+) TACCT(C/G)CCATG intron-variant
rs12167 -- 32,996,691(+) ACCAT(A/G)TAATT utr-variant-3-prime
rs1133253 -- 33,007,660(-) GCACC(A/G)TTATC intron-variant
rs1803198 -- 33,014,261(-) CTGGA(A/C)GATCT missense, reference
rs1803199 -- 33,014,169(-) GGGCC(C/T)ACAAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GLB1 Gene

Variant ID Type Subtype PubMed ID
nsv876678 CNV Loss 21882294
nsv3753 CNV Insertion 18451855
esv33555 CNV Gain 17666407
esv2725116 CNV Deletion 23290073
nsv509820 CNV Loss 20534489

Relevant External Links for GLB1 Gene

HapMap Linkage Disequilibrium report
GLB1
Human Gene Mutation Database (HGMD)
GLB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLB1 Gene

Disorders for GLB1 Gene

(4) OMIM Diseases for GLB1 Gene (611458)

UniProtKB/Swiss-Prot

BGAL_HUMAN
  • GM1-gangliosidosis 1 (GM1G1) [MIM:230500]: 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. {ECO:0000269 PubMed:10338095, ECO:0000269 PubMed:10737981, ECO:0000269 PubMed:10839995, ECO:0000269 PubMed:1487238, ECO:0000269 PubMed:15365997, ECO:0000269 PubMed:15714521, ECO:0000269 PubMed:15791924, ECO:0000269 PubMed:16538002, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17309651, ECO:0000269 PubMed:1907800, ECO:0000269 PubMed:1909089, ECO:0000269 PubMed:1928092, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:8213816, ECO:0000269 Ref.23, ECO:0000269 Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • GM1-gangliosidosis 2 (GM1G2) [MIM:230600]: 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. {ECO:0000269 PubMed:10737981, ECO:0000269 PubMed:12644936, ECO:0000269 PubMed:15714521, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17309651, ECO:0000269 PubMed:1907800, ECO:0000269 PubMed:1909089, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:8213816}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • GM1-gangliosidosis 3 (GM1G3) [MIM:230650]: 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. {ECO:0000269 PubMed:11511921, ECO:0000269 PubMed:15986423, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17309651, ECO:0000269 PubMed:1907800, ECO:0000269 PubMed:1909089, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:8198123, ECO:0000269 Ref.23, ECO:0000269 Ref.25}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]: 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. {ECO:0000269 PubMed:11511921, ECO:0000269 PubMed:12393180, ECO:0000269 PubMed:16538002, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:1928092, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:7586649}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for GLB1 Gene

Disease -log(P) Hits PubMed IDs
gangliosidosis gm1 95.7 16
morquios syndrome 89.7 10
gangliosidosis gm1 infantile 86.1 1
sialidosis 82.6 1
lysosomal storage diseases 55.9 2

Relevant External Links for GLB1

Genetic Association Database (GAD)
GLB1
Human Genome Epidemiology (HuGE) Navigator
GLB1
genes like me logo Genes that share disorders with GLB1: view

Publications for GLB1 Gene

  1. Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. (PMID: 8213816) Boustany R.-M.N. … Suzuki K. (Am. J. Hum. Genet. 1993) 3 4 23
  2. The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta- galactosidase. (PMID: 8383699) Hinek A. … Callahan J. (J. Clin. Invest. 1993) 3 4 23
  3. The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. (PMID: 9497360) Privitera S. … Hinek A. (J. Biol. Chem. 1998) 3 4 23
  4. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. (PMID: 10338095) Silva C.M.D. … Giugliani R. (Hum. Mutat. 1999) 3 4 23
  5. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. (PMID: 10571006) Callahan J.W. (Biochim. Biophys. Acta 1999) 3 4 23

Products for GLB1 Gene

Sources for GLB1 Gene

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