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Gene Review

GLB1  -  galactosidase, beta 1

Homo sapiens

Synonyms: Acid beta-galactosidase, Beta-galactosidase, EBP, ELNR1, Elastin receptor 1, ...
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Disease relevance of GLB1


Psychiatry related information on GLB1


High impact information on GLB1

  • Identification of these molecules has yielded clues to the biochemical pathways that ultimately result in transcriptional activation via PPAR-gamma and C/EBP [10].
  • Characterization of regulatory regions of adipose-specific genes has led to the identification of the transcription factors peroxisome proliferator-activated receptor-gamma (PPAR-gamma) and CCAAT/enhancer binding protein (C/EBP), which play a key role in the complex transcriptional cascade during adipocyte differentiation [10].
  • We conducted a genotype-phenotype association study in 470 Tanzanians, Kenyans and Sudanese and identified three SNPs (G/C-14010, T/G-13915 and C/G-13907) that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro [11].
  • The switch from short- to long-term facilitation induced by behavioral sensitization in Aplysia involves CREB-like proteins, as well as the immediate-early gene ApC/EBP [12].
  • Using the bZIP domain of ApC/EBP in a two-hybrid system, we have cloned ApCREB2, a transcription factor constitutively expressed in sensory neurons that resembles human CREB2 and mouse ATF4 [12].

Chemical compound and disease context of GLB1

  • Subjects were considered deficient in lactase if breath-hydrogen excretion exceeded 0.20 ml per min above fasting at 2 hr after a lactose load of 2 g per kg of body weight (maximum 50 g) [13].
  • We determined the prevalence of lactase deficiency by analysis of respiratory hydrogen (H2) in 30 women with idiopathic postmenopausal osteoporosis and in 31 female control subjects without evidence of metabolic bone disease [14].
  • Taken together, these results demonstrate that the steroid-induced expression of C/EBP alpha is necessary to mediate the glucocorticoid G1 cell cycle arrest of rat hepatoma cells and implicates a role for this transcription factor in the growth control of liver-derived epithelial tumor cells [15].
  • Alpha-1 acid glycoprotein/enhancer-binding protein (AGP/EBP) (C/EBPbeta), a member of the C/EBP family, is one of the key transcription factors responsible for the induction of a wide array of genes, some of which are expressed during the acute-phase response [16].
  • Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly [17].

Biological context of GLB1

  • Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele [18].
  • Some common amino acid substitutions [c.1445G>A (p.Arg482H), c.622C>T (p.Arg208His), c.175C>T (p.Arg59Cys) and c.176G>A (p.Arg59His)] were present in the GLB1 enzyme of several patients, all of Mediterranean origin, suggesting a common origin [19].
  • In this report we provide evidence that a 67-kD catalytically inactive form of beta-galactosidase produced by alternative splicing demonstrates immunological and functional similarity and sequence homology to the 67-kD EBP, suggesting that the two might be the same [20].
  • We and others have previously shown that a 67-kD cell surface elastin/laminin-binding protein (EBP) is responsible for cell adhesion to elastin and laminin and for mediating the process of elastin fiber assembly, but the nature of this protein was unknown [20].
  • Three adult patients with acid beta-galactosidase deficiency/GM1 gangliosidosis who were from two unrelated families of Scandinavian descent were found to share a common point mutation in the coding region of the corresponding gene [21].

Anatomical context of GLB1

  • Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots [18].
  • The purpose of this study is to determine effects of GLB1, PPCA and NEU1 gene mutations on elastogenesis in skin fibroblasts [22].
  • We conclude that the presence of genetic lesions in both GLB1 and EBP coding region does not directly predict impaired elastogenesis and that elastic fiber assembly has to be evaluated specifically in each case [19].
  • The present study provides a novel and natural model validating functional roles of S-Gal in elastogenesis and elucidates an association between impaired elastogenesis and the development of connective-tissue disorders in patients with Morquio B disease and in patients with an infantile form of GM1-gangliosidosis [23].
  • The cDNA was also transfected into COS-1 cells and into the EBP-deficient smooth muscle cells (SMC) from sheep ductus arteriosus (DA) [24].

Associations of GLB1 with chemical compounds

  • In addition, sequence homology among this splice variant of human beta-galactosidase, sheep EBP, and NH2-terminal sequences of some elastases suggests that these proteins share a common ligand-binding motif that has not been previously recognized [20].
  • Amlodipine-induced p21(Waf1/Cip1) promoter activity and expression were abrogated by C/EBP-alpha antisense oligonucleotide or by the GR antagonist RU486 [25].
  • These experiments reveal that, in ferric SOLly GLB1, one of the histidine planes is rotated 20 degrees (+/-10 degrees ) away from a N(heme)-Fe-N(heme) axis [26].
  • When both Type I and Type II regenerable cultured tissues were exposed to regeneration medium without ABA or mannitol, several GLB1 antibody immunoreactive proteins were produced [4].
  • Metabolic pulse labeling of the 67-kD EBP with radioactive serine and further chase of this tracer indicated that both normal fibroblasts and fibroblasts from patients with Costello syndrome initially synthesized comparable amounts of this protein; however, the fibroblasts from Costello syndrome patients quickly lost it into the conditioned media [27].

Physical interactions of GLB1


Regulatory relationships of GLB1


Other interactions of GLB1

  • The reduction in GLB1 and EBP confirms that PPCA is essential for their integrity [28].
  • This protein forms a high-molecular-weight complex with the hydrolases beta-galactosidase (GLB1) and neuraminidase (NEU1) [28].
  • Also, the detection of specific activating transcription factor/cyclic-AMP response element binding protein antigens by antibody supershift analysis of nuclear complexes suggest that species of this family of transcription factors could be involved in the formation of complexes with C/EBP delta within the CFTR gene inverted CCAAT-like element [32].
  • We show that C/EBP alpha can cooperate with p21 to inhibit CDK2 activity in vitro [33].
  • Furthermore, we demonstrated that the complexes containing RB and C/EBP proteins directly interacted with C-EBP binding site on DNA [29].

Analytical, diagnostic and therapeutic context of GLB1


  1. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Silva, C.M., Severini, M.H., Sopelsa, A., Coelho, J.C., Zaha, A., d'Azzo, A., Giugliani, R. Hum. Mutat. (1999) [Pubmed]
  2. 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. Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. Hum. Genet. (2001) [Pubmed]
  3. Retargeting mobile group II introns to repair mutant genes. Jones, J.P., Kierlin, M.N., Coon, R.G., Perutka, J., Lambowitz, A.M., Sullenger, B.A. Mol. Ther. (2005) [Pubmed]
  4. Globulin-1 gene expression in regenerable Zea mays (maize) callus. Duncan, D.R., Kriz, A.L., Paiva, R., Widholm, J.M. Plant Cell Rep. (2003) [Pubmed]
  5. Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family. van Gemund, J.J., Giesberts, M.A., Eerdmans, R.F., Blom, W., Kleijer, W.J. Hum. Genet. (1983) [Pubmed]
  6. Quantitative measurement of lactose absorption. Bond, J.H., Levitt, M.D. Gastroenterology (1976) [Pubmed]
  7. Tolerance to the daily ingestion of two cups of milk by individuals claiming lactose intolerance. Suarez, F.L., Savaiano, D., Arbisi, P., Levitt, M.D. Am. J. Clin. Nutr. (1997) [Pubmed]
  8. Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men. Enattah, N., Välimäki, V.V., Välimäki, M.J., Löyttyniemi, E., Sahi, T., Järvelä, I. Calcif. Tissue Int. (2004) [Pubmed]
  9. Genetic counseling and parental self-concept change. Corgan, R.L. Birth Defects Orig. Artic. Ser. (1979) [Pubmed]
  10. Understanding adipocyte differentiation. Gregoire, F.M., Smas, C.M., Sul, H.S. Physiol. Rev. (1998) [Pubmed]
  11. Convergent adaptation of human lactase persistence in Africa and Europe. Tishkoff, S.A., Reed, F.A., Ranciaro, A., Voight, B.F., Babbitt, C.C., Silverman, J.S., Powell, K., Mortensen, H.M., Hirbo, J.B., Osman, M., Ibrahim, M., Omar, S.A., Lema, G., Nyambo, T.B., Ghori, J., Bumpstead, S., Pritchard, J.K., Wray, G.A., Deloukas, P. Nat. Genet. (2007) [Pubmed]
  12. Aplysia CREB2 represses long-term facilitation: relief of repression converts transient facilitation into long-term functional and structural change. Bartsch, D., Ghirardi, M., Skehel, P.A., Karl, K.A., Herder, S.P., Chen, M., Bailey, C.H., Kandel, E.R. Cell (1995) [Pubmed]
  13. Family studies of lactase deficiency in the American Indian. Newcomer, A.D., Gordon, H., Thomas, P.J., McGill, D.B. Gastroenterology (1977) [Pubmed]
  14. Lactase deficiency: prevalence in osteoporosis. Newcomer, A.D., Hodgson, S.F., McGill, D.B., Thomas, P.J. Ann. Intern. Med. (1978) [Pubmed]
  15. Glucocorticoid-stimulated CCAAT/enhancer-binding protein alpha expression is required for steroid-induced G1 cell cycle arrest of minimal-deviation rat hepatoma cells. Ramos, R.A., Nishio, Y., Maiyar, A.C., Simon, K.E., Ridder, C.C., Ge, Y., Firestone, G.L. Mol. Cell. Biol. (1996) [Pubmed]
  16. Transcriptional induction of the alpha-1 acid glycoprotein (AGP) gene by synergistic interaction of two alternative activator forms of AGP/enhancer-binding protein (C/EBP beta) and NF-kappaB or Nopp140. Lee, Y.M., Miau, L.H., Chang, C.J., Lee, S.C. Mol. Cell. Biol. (1996) [Pubmed]
  17. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Hinek, A., Wilson, S.E. Am. J. Pathol. (2000) [Pubmed]
  18. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. Hum. Genet. (2003) [Pubmed]
  19. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Caciotti, A., Donati, M.A., Boneh, A., d'Azzo, A., Federico, A., Parini, R., Antuzzi, D., Bardelli, T., Nosi, D., Kimonis, V., Zammarchi, E., Morrone, A. Hum. Mutat. (2005) [Pubmed]
  20. The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. Hinek, A., Rabinovitch, M., Keeley, F., Okamura-Oho, Y., Callahan, J. J. Clin. Invest. (1993) [Pubmed]
  21. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. Chakraborty, S., Rafi, M.A., Wenger, D.A. Am. J. Hum. Genet. (1994) [Pubmed]
  22. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. Tatano, Y., Takeuchi, N., Kuwahara, J., Sakuraba, H., Takahashi, T., Takada, G., Itoh, K. J. Med. Invest. (2006) [Pubmed]
  23. 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. Hinek, A., Zhang, S., Smith, A.C., Callahan, J.W. Am. J. Hum. Genet. (2000) [Pubmed]
  24. The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. Privitera, S., Prody, C.A., Callahan, J.W., Hinek, A. J. Biol. Chem. (1998) [Pubmed]
  25. The calcium channel blocker amlodipine exerts its anti-proliferative action via p21(Waf1/Cip1) gene activation. Ziesche, R., Petkov, V., Lambers, C., Erne, P., Block, L.H. FASEB J. (2004) [Pubmed]
  26. Characterization of nonsymbiotic tomato hemoglobin. Ioanitescu, A.I., Dewilde, S., Kiger, L., Marden, M.C., Moens, L., Van Doorslaer, S. Biophys. J. (2005) [Pubmed]
  27. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Hinek, A., Smith, A.C., Cutiongco, E.M., Callahan, J.W., Gripp, K.W., Weksberg, R. Am. J. Hum. Genet. (2000) [Pubmed]
  28. New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Malvagia, S., Morrone, A., Caciotti, A., Bardelli, T., d'Azzo, A., Ancora, G., Zammarchi, E., Donati, M.A. Mol. Genet. Metab. (2004) [Pubmed]
  29. Retinoblastoma protein complexes with C/EBP proteins and activates C/EBP-mediated transcription. Charles, A., Tang, X., Crouch, E., Brody, J.S., Xiao, Z.X. J. Cell. Biochem. (2001) [Pubmed]
  30. Conformational dependence of collagenase (matrix metalloproteinase-1) up-regulation by elastin peptides in cultured fibroblasts. Brassart, B., Fuchs, P., Huet, E., Alix, A.J., Wallach, J., Tamburro, A.M., Delacoux, F., Haye, B., Emonard, H., Hornebeck, W., Debelle, L. J. Biol. Chem. (2001) [Pubmed]
  31. Characterization of the elastin binding domain in the cell-surface 25-kDa elastin-binding protein of staphylococcus aureus (EbpS). Park, P.W., Broekelmann, T.J., Mecham, B.R., Mecham, R.P. J. Biol. Chem. (1999) [Pubmed]
  32. Transcription of cystic fibrosis transmembrane conductance regulator requires a CCAAT-like element for both basal and cAMP-mediated regulation. Pittman, N., Shue, G., LeLeiko, N.S., Walsh, M.J. J. Biol. Chem. (1995) [Pubmed]
  33. CCAAT/enhancer-binding protein-alpha cooperates with p21 to inhibit cyclin-dependent kinase-2 activity and induces growth arrest independent of DNA binding. Harris, T.E., Albrecht, J.H., Nakanishi, M., Darlington, G.J. J. Biol. Chem. (2001) [Pubmed]
  34. Elastin-derived peptides upregulate matrix metalloproteinase-2-mediated melanoma cell invasion through elastin-binding protein. Ntayi, C., Labrousse, A.L., Debret, R., Birembaut, P., Bellon, G., Antonicelli, F., Hornebeck, W., Bernard, P. J. Invest. Dermatol. (2004) [Pubmed]
  35. A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. Booms, P., Ney, A., Barthel, F., Moroy, G., Counsell, D., Gille, C., Guo, G., Pregla, R., Mundlos, S., Alix, A.J., Robinson, P.N. J. Mol. Cell. Cardiol. (2006) [Pubmed]
  36. Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. Boustany, R.M., Qian, W.H., Suzuki, K. Am. J. Hum. Genet. (1993) [Pubmed]
  37. Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening. Giglio, L., Candusso, M., D'Orazio, C., Mastella, G., Faraguna, D. Acta Paediatr. (1997) [Pubmed]
  38. Expression of drug-metabolizing enzymes, nuclear transcription factors and ABC transporters in Caco-2 cells. Borlak, J., Zwadlo, C. Xenobiotica (2003) [Pubmed]
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