Property Summary

NCBI Gene PubMed Count 101
PubMed Score 423.98
PubTator Score 3591.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (9)

Disease log2 FC p
Multiple myeloma 1.426 1.8e-03
astrocytoma 1.800 1.3e-02
glioblastoma 1.800 6.5e-03
atypical teratoid / rhabdoid tumor 1.300 2.5e-04
tuberculosis 1.300 2.3e-06
pancreatic ductal adenocarcinoma liver m... -1.409 2.0e-02
diabetes mellitus -1.200 8.2e-03
pediatric high grade glioma 1.200 3.5e-06
ovarian cancer 2.600 2.1e-06

 GWAS Trait (1)

Gene RIF (46)

PMID Text
26086247 The study proposes an explanation for ELNR1 uncoupling based on the age-related alterations of Neu-1 activity.
25964428 This study shows that moderate widespread expression of betagal in the CNS of GM1 gangliosidosis mice is sufficient to achieve significant biochemical impact with phenotypic amelioration and extension in lifespan
25936995 Identification and analysis of GLB1 mutations in Indian patients with GM1 gangliosidosis.
25876105 Overexpression of the novel senescence marker GLB1 in prostate cancer predicts reduced recurrence of PSA-expressing tumors.
25600812 This study analyzed patient cells with GM1 gangliosidosis and sialidosis. A novel mutation p.E186A is identified in GLB1 gene.
24018455 The activity of serum GAL was significantly higher in colon cancer patients with a history of alcohol and nicotine dependence.
23911047 We observed significant lower values of beta-galactosidase, FUC and tendency to decrease of MAN and GLU concentration in nasal polyps
22908062 beta-galactosidase, considered as a senescence marker, is over-expressed only in specific subtypes of pituitary adenomas, but is also present in carcinomas considered as a group
22763966 In the serum of patients with Lyme disease, GAL activity significantly increased (p = 0.029), and the activity of FUC had a tendency to increase (p = 0.153), compared to the control group.
22234367 In a Turkish population, mutations in GLB1 gene leads to severely deficient enzyme activity and result in infantile phenotype of the GM1 gangliosidosis.
22178079 Elastin derived peptides may play a role in neovascular age-related macular degeneration by binding to and inducing neovascular phenotypes in choroidal endothelial cells through their receptor, GLB1.
22128166 Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
22033734 GLB alleles have a role in GM1-gangliosidosis and Morquio B disease, and fluorous iminoalditols act as effective pharmacological chaperones against their gene products
22001501 We show here that mouse GLB1 has greater stability when compared to human GLB1, and that human GLB1 activity is temperature and protective-dependent on protein cathepsin A, while that of mouse GLB1 is not
21978926 The non-random distribution of plasma membrane-associated beta-hexosaminidase and beta-galactosidase and their localization within lipid microdomains, suggest a role of these enzymes in the local reorganization of glycosphingolipid-based signalling units.
21321400 Plasma beta-galactosidase and beta-hexosaminidase levels are higher in patients with Alzheimer's disease-type 2 diabetes mellitus (T2DM) compared to those with T2DM alone.
20947500 The hyperthermia-enhanced association between tropoelastin and its 67-kDa chaperone results in better deposition of elastic fibers.
20920281 Results describe four mutations in Han Chinese patients that induce significant suppression of beta-galactosidase activity, correlating with severity of GM1 gangliosidosis and presence of cardiomyopathy.
20826101 luciferase-based assay is a reliable and convenient method for screening and evaluation of chaperone effects on human beta-gal mutants
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20175788 Data show that four mutations of GLB1 could be correlated to a distinct GM1 gangliosidosis phenotype.
19769716 in skin, the activation of the S-Gal/Cath-A/Neu-1 "elastin receptor" complex might dictate cell survival and skin tissue repair
19472408 missense mutations affecting the catalytic site of acid beta-galactosidase in Morquio B disease
19091613 GLB1 mutation caused Morquio type B disease with mental regression in two siblings.
18976701 Elastin receptor-mediated monocyte chemoattraction induced by polysaccharide from Candida and seaweed.
18772331 Neuraminidase caused the desialylation of both PDGF and IGF-1 receptors and diminished the intracellular signals induced by the mitogenic ligands PDGF-BB and IGF-2.
18704747 Report deregulation of versican and elastin binding protein in solar elastosis.
18524657 102 mutations distributed along the beta-galactosidase gene have been reported in GM1 gangliosidosis patients.
18353697 Mutation responsible for feline G(M1) gangliosidosis was identified in beta-galactosidase resulting in an amino acid substitution at arginine 483, known to cause G(M1) gangliosidosis in humans.
18217416 following HIV infection, there is an increased rate of catabolism of glycoconjugates in saliva resulting from changes in the proportions of the activity of isoenzymes A and B of N-acetyl-beta-hexosaminidase, beta-galactosidase and alpha-fucosidase
18088383 canine model is an appropriate animal model for the human late infantile form and represents a versatile system to test gene therapeutic approaches for human and canine G(M1)-gangliosidosis
17664528 GLB1 mutant alleles have roles in GM1-gangliosidosis and Morquio B patients
17661814 Here we report the new variant p.Arg595Trp in the GLB1 gene, which markedly reduces beta-galactosidase activity when expressed in COS-1 cells. The variant was identified in the healthy father of a girl with GM1 gangliosidosis
17522702 Senescence-associated beta-galactosidase activity in human melanocytic nevi is absent in vivo.
17309651 14 novel mutations in the GLB1 gene were identified in patients with GM1 gangliosidosis from Argentina
16941474 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients suggesting common origin for the prevalent p.R59H mutation among gypsies.
16626397 Senescence Associated-beta-gal activity is expressed from GLB1, the gene encoding lysosomal beta-D-galactosidase, the activity of which is typically measured at acidic pH 4.5.
16538002 effects of GLB1, PPCA and NEU1 gene mutations on elastogenesis in skin fibroblasts
16314480 Infantile impaired elastogenesis arose from a primary elatin binding protein (ELNR1) defectin gangliosidosis, according to molecular analysis.
15907791 expression and number of El-R on white blood cells using a specific 67 kDa El-R antibody, and presence of mRNA corresponding to the gene coding for El-R
15714521 4 new and 10 known GLB1 mutations were studied. The c.1445G>A (p.Arg482His), c.175C>T (p.Arg59Cys), c.733+2T>C, c.1736G>A (p.Gly579Asp), & c.1051C>T (p.Arg351X) mutations, affect the stabilization of PPCA by hampering the interaction of GLB1/EBP & PPCA.
15365997 4 new GLB1 mutations were found: a premature stop codon in exon 2 (c.171C>G); a splicing error in intron 2 (c.245+1G>A); missense mutation in exon 4 (c.451G>T); & a splicing mutation in intron 8 (c.914+4A>G).
14987258 the 67-kDa elastin receptor was specifically expressed in the epithelioid or multinucleated giant cells in giant cell granuloma
12644936 polymorphisms in beta 1 galactosidase is associted with type-II GM1 gangliosidosis
12515396 This protein was expressed locally in the media and adventitia at injected arterial segments without any significant dissemination to remote areas.
12393180 Three new mutations in three Morquio B patients where the Trp 273 Leu mutation is absent

AA Sequence

MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLL      1 - 70
KMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLL     71 - 140
EKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHH    141 - 210
LGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQP    211 - 280
HSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFAL    281 - 350
RNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT    351 - 420
TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYIN    421 - 490
DFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPS    491 - 560
GIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDD    561 - 630
PELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV                           631 - 677
//

Text Mined References (107)

PMID Year Title
26086247 2015 Uncoupling of Elastin Complex Receptor during In Vitro Aging Is Related to Modifications in Its Intrinsic Sialidase Activity and the Subsequent Lactosylceramide Production.
25964428 2015 Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25936995 2015 Recurrent and novel GLB1 mutations in India.
25876105 2015 Overexpression of the novel senescence marker ?-galactosidase (GLB1) in prostate cancer predicts reduced PSA recurrence.
25600812 2015 Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24018455 2013 The activity of serum beta-galactosidase in colon cancer patients with a history of alcohol and nicotine dependence: preliminary data.
23911047 Lysosomal exoglycosidases in nasal polyps.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23042114 2012 Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
22908062 Oncogene-induced senescence in pituitary adenomas and carcinomas.
22763966 2012 Alpha fucosidase and beta galactosidase in serum of a Lyme disease patients as a possible marker of accelerated senescence - a preliminary study.
22234367 2012 Four novel mutations in the ?-galactosidase gene identified in infantile type of GM1 gangliosidosis.
22178079 2012 Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1).
22128166 2012 Crystal structure of human ?-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
22033734 2012 Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB? alleles causing GM1-gangliosidosis and Morquio B disease.
22001501 2011 Murine ?-galactosidase stability is not dependent on temperature or protective protein/cathepsin A.
21978926 2012 Glycohydrolases ?-hexosaminidase and ?-galactosidase are associated with lipid microdomains of Jurkat T-lymphocytes.
21321400 2011 Lysosomal ?-galactosidase and ?-hexosaminidase activities correlate with clinical stages of dementia associated with Alzheimer's disease and type 2 diabetes mellitus.
21269460 2011 Initial characterization of the human central proteome.
21105107 2010 Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
20947500 2010 The hyperthermia-enhanced association between tropoelastin and its 67-kDa chaperone results in better deposition of elastic fibers.
20920281 2010 Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.
20826101 2010 Chemical chaperone therapy: luciferase assay for screening of ?-galactosidase mutations.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
19769716 Role of the elastin receptor complex (S-Gal/Cath-A/Neu-1) in skin repair and regeneration.
19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19091613 2009 New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18976701 Elastin peptide receptor-directed monocyte chemotactic polysaccharides derived from seaweed sporophyll and from infectious fungus.
18772331 2008 Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2.
18704747 2009 Deregulation of versican and elastin binding protein in solar elastosis.
18524657 2008 GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
18353697 2008 Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.
18217416 2007 Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.
18088383 Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.
17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
17661814 2007 Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
17522702 2007 Absence of senescence-associated beta-galactosidase activity in human melanocytic nevi in vivo.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
16941474 2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16626397 2006 Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.
16538002 2006 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
16314420 2006 Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly.
16263699 2006 Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.
15986423 2005 Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
15907791 2005 Presence and active synthesis of the 67 kDa elastin-receptor in human circulating white blood cells.
15791924 2005 Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
15714521 2005 Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
15498789 2005 Role of a novel EGF-like domain-containing gene NGX6 in cell adhesion modulation in nasopharyngeal carcinoma cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15365997 2004 Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
14987258 2004 Expression of 67-kDa elastin receptor in annular elastolytic giant cell granuloma: elastin peptides induce monocyte-derived dendritic cells or macrophages to form granuloma in vitro.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12644936 2003 Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
12515396 2002 Catheter-based adenovirus-mediated local intravascular gene delivery of a soluble TGF-beta type II receptor using an infiltrator in porcine coronary arteries: efficacy and complications.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12393180 2002 Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
11927518 2002 Endothelial cell senescence in human atherosclerosis: role of telomere in endothelial dysfunction.
11511921 2001 Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
10891505 2000 Evidence for a telomere-independent "clock" limiting RAS oncogene-driven proliferation of human thyroid epithelial cells.
10841810 2000 Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
10839995 2000 Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
10737981 2000 beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
10571006 1999 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.
10338095 1999 Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
9501080 1998 Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.
9497360 1998 The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.
9203065 1997 beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
8922281 Biological roles of the non-integrin elastin/laminin receptor.
8910459 1996 Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate.
8670798 1996 The human cytosolic molecular chaperones hsp90, hsp70 (hsc70) and hdj-1 have distinct roles in recognition of a non-native protein and protein refolding.
8500799 1993 A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
8383699 1993 The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase.
8213816 1993 Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
8199591 1994 Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.
8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7693577 1993 Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.
7586649 1995 Clinical and molecular analysis of a Japanese boy with Morquio B disease.
6807121 1982 A case of type 2 Gm1-gangliosidosis with long survival.
6791574 1981 Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features.
5647842 1968 Generalized gangliosidosis: beta-galactosidase deficiency.
3922758 1985 Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein.
3921454 1985 The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.
3143362 1988 Cloning, sequencing, and expression of cDNA for human beta-galactosidase.
3102233 1987 Purification and partial characterization of lysosomal neuraminidase from human placenta.
3084469 1986 GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.
2511208 1989 Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
2111707 1990 Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.
1928092 1991 Human beta-galactosidase gene mutations in morquio B disease.
1909871 1991 Organization of the gene encoding human lysosomal beta-galactosidase.
1909089 1991 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
1907800 1991 Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
1606711 1992 GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
1487238 1992 A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
1353343 1992 GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
113895 1979 GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA).
110522 1978 Assignment of a beta-galactosidase gene (beta GALA) to chromosome 3 in man.