Hmbs

Summary

Gene Symbol: Hmbs
Description: hydroxymethylbilane synthase
Alias: PBGD, T25658, Ups, Uros1, porphobilinogen deaminase, PBG-D, pre-uroporphyrinogen synthase
Species: mouse

Top Publications

  1. doi Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency
    Maria Collantes
    MicroPET Research Unit, CIMA CUN, University of Navarra, Pamplona, Spain, Nuclear Medicine Department, Clinica Universidad de Navarra, Pamplona, Spain, Instituto de Investigación Sanitaria de Navarra IdiSNA, Pamplona, Spain
    Hum Mol Genet 25:1318-27. 2016
  2. doi Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria
    Chadi Homedan
    UMR INSERM 1063, Département de Biochimie et Génétique and
    Hum Mol Genet 24:5015-23. 2015
  3. pmc The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in mice
    Heyka H Jakobs
    Department of Pharmaceutical and Medicinal Chemistry, Christian Albrechts Universitat zu Kiel, Kiel, Germany
    PLoS ONE 9:e105371. 2014
  4. ncbi A porphobilinogen deaminase (PBGD) Ran-binding protein interaction is implicated in nuclear trafficking of PBGD in differentiating glioma cells
    Lior Greenbaum
    Life Science Faculty, Bar Ilan University, Ramat Gan 52900, Israel
    Oncogene 22:5221-8. 2003
  5. doi Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice
    Carmen Unzu
    Gene Therapy and Hepatology Area, Centre for Applied Medical Research, University of Navarra, 31008 Pamplona, Spain
    Hum Mol Genet 22:2929-40. 2013
  6. ncbi GATA-1 self-association controls erythroid development in vivo
    Ritsuko Shimizu
    Graduate School of Comprehensive Human Sciences and Center for Tsukuba Advanced Research Alliance, University of Tsukuba, Tennoudai 1 1 1, Tsukuba 305 8577, Japan
    J Biol Chem 282:15862-71. 2007
  7. ncbi Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
    Shuhei Kameya
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 11:1879-86. 2002
  8. pmc A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells
    Michael R Tallack
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
    Genome Res 20:1052-63. 2010
  9. doi Cloning of complementary DNAs encoding structurally related homeoproteins from preimplantation mouse embryos: their involvement in the differentiation of embryonic stem cells
    Koichi Saito
    Department of Biotechnology, Faculty of Bioresource Sciences, Akita Prefectural University, Akita, Japan
    Biol Reprod 82:687-97. 2010
  10. doi Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria
    Carmen Unzu
    Division of Gene Therapy and Hepatology, Center for Applied Medical Research, University of Navarra, Avda Pio XII 55, Pamplona, Spain
    J Hepatol 52:417-24. 2010

Scientific Experts

  • Annika Johansson
  • Carmen Unzu
  • Antonio Fontanellas
  • Rafael Enriquez de Salamanca
  • Ana Sampedro
  • Maria Collantes
  • Chadi Homedan
  • Heyka H Jakobs
  • Jesus Prieto
  • Itsaso Mauleon
  • R L Lindberg
  • Koichi Saito
  • Michael R Tallack
  • Makiko Nagata
  • Ritsuko Shimizu
  • Sebastian Haesler
  • Roy Drissen
  • Miguel Barajas
  • Ivan Penuelas
  • Lior Greenbaum
  • Marina Benito
  • Francisco Molinet-Dronda
  • Maria Vinaixa
  • Miguel A Pozo
  • Elena Prieto
  • Fernando J Corrales
  • Mercedes Delgado
  • Irantzu Serrano-Mendioroz
  • Jihane Laafi
  • Caroline Schmitt
  • Jean Charles Deybach
  • Valérie Desquiret-Dumas
  • Zoubida Karim
  • Laurent Gouya
  • Herve Puy
  • Naig Gueguen
  • Yves Malthiery
  • Hugo Lenglet
  • Gilles Simard
  • Pascal Reynier
  • Ewa E Hennig
  • Marta Gajewska
  • Artur Dzwonek
  • Shuhei Kameya
  • Michal Mikula
  • Bernd Clement
  • Antje Havemeyer
  • Monika Borowa-Chmielak
  • Jerzy Ostrowski
  • Adriana Strzalkowska
  • TOMAS ARAGON
  • Manuela Gonzalez-Aparicio
  • Wai Shan Yuen
  • Miki Soma
  • Ikuo Kojima
  • Juan Dubrot
  • Elanor N Wainwright
  • Sean M Grimmond
  • Ignacio Melero
  • Yusuke Hosoi
  • Masayuki Kobayashi
  • Janelle R Keys
  • Nicole Cloonan
  • Kano Kasuga
  • Masafumi Watanabe
  • Lucia Vanrell
  • Brooke B Gardiner
  • Masato Nakazawa
  • Andrew C Perkins
  • Emiko Irokawa
  • Tom Whitington
  • Timothy L Bailey
  • Ehsan Nourbakhsh
  • R Jover
  • Gloria Gonzalez-Aseguinolaza
  • Hajime Abe
  • Kazuhisa Sekimizu
  • C Porcher
  • Nagisa Arimitsu
  • Takahiro Ito
  • Hiroshi Koyama
  • Keizo Nishikawa
  • Christelle Rochefort
  • Kinuko Ohneda
  • Benjamin Georgi
  • Cecelia D Trainor
  • Masayuki Yamamoto
  • Pawel Licznerski
  • Pavel Osten
  • Makoto Kobayashi

Detail Information

Publications28

  1. doi Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency
    Maria Collantes
    MicroPET Research Unit, CIMA CUN, University of Navarra, Pamplona, Spain, Nuclear Medicine Department, Clinica Universidad de Navarra, Pamplona, Spain, Instituto de Investigación Sanitaria de Navarra IdiSNA, Pamplona, Spain
    Hum Mol Genet 25:1318-27. 2016
    b>Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks when hepatic heme synthesis is activated by endogenous or environmental factors including fasting...
  2. doi Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria
    Chadi Homedan
    UMR INSERM 1063, Département de Biochimie et Génétique and
    Hum Mol Genet 24:5015-23. 2015
    ..an autosomal dominant metabolic disease (MIM #176000), is due to a deficiency of hydroxymethylbilane synthase (HMBS), which catalyzes the third step of the heme biosynthetic pathway...
  3. pmc The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in mice
    Heyka H Jakobs
    Department of Pharmaceutical and Medicinal Chemistry, Christian Albrechts Universitat zu Kiel, Kiel, Germany
    PLoS ONE 9:e105371. 2014
    ..With this study we provide further evidence that the endogenous function of the mARC protein is linked with lipid metabolism. ..
  4. ncbi A porphobilinogen deaminase (PBGD) Ran-binding protein interaction is implicated in nuclear trafficking of PBGD in differentiating glioma cells
    Lior Greenbaum
    Life Science Faculty, Bar Ilan University, Ramat Gan 52900, Israel
    Oncogene 22:5221-8. 2003
    b>Porphobilinogen deaminase (PBGD) is a rate-limiting enzyme of the heme biosynthesis pathway, whose level is elevated in various human tumors...
  5. doi Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice
    Carmen Unzu
    Gene Therapy and Hepatology Area, Centre for Applied Medical Research, University of Navarra, 31008 Pamplona, Spain
    Hum Mol Genet 22:2929-40. 2013
    ..porphyria (AIP) is a hepatic metabolic disease that results from haplo-insufficient activity of porphobilinogen deaminase (PBGD)...
  6. ncbi GATA-1 self-association controls erythroid development in vivo
    Ritsuko Shimizu
    Graduate School of Comprehensive Human Sciences and Center for Tsukuba Advanced Research Alliance, University of Tsukuba, Tennoudai 1 1 1, Tsukuba 305 8577, Japan
    J Biol Chem 282:15862-71. 2007
    ..These results provide the first convincing line of evidence that the self-association of GATA-1 is important for proper mammalian erythroid development in vivo...
  7. ncbi Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
    Shuhei Kameya
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 11:1879-86. 2002
    ..We also observed the localization of Wnt family proteins in the apical membrane of the RPE. Our results provide genetic evidence for an involvement of the Mfrp gene expressed by RPE in the degeneration of photoreceptors...
  8. pmc A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells
    Michael R Tallack
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
    Genome Res 20:1052-63. 2010
    ..Additionally, we suggest new mechanisms for KLF1 cooperation with other transcription factors, in particular the erythroid transcription factor GATA1, to maintain homeostasis in the erythroid compartment...
  9. doi Cloning of complementary DNAs encoding structurally related homeoproteins from preimplantation mouse embryos: their involvement in the differentiation of embryonic stem cells
    Koichi Saito
    Department of Biotechnology, Faculty of Bioresource Sciences, Akita Prefectural University, Akita, Japan
    Biol Reprod 82:687-97. 2010
    ..Taken together, it was concluded that these transcripts encoding homeoproteins are capable of regulating the maintenance and/or differentiation of mouse ES cells and likely regulate that of preimplantation embryos...
  10. doi Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria
    Carmen Unzu
    Division of Gene Therapy and Hepatology, Center for Applied Medical Research, University of Navarra, Avda Pio XII 55, Pamplona, Spain
    J Hepatol 52:417-24. 2010
    Acute intermittent porphyria (AIP) is characterized by hepatic porphobilinogen deaminase (PBGD) deficiency resulting in a marked overproduction of presumably toxic porphyrin precursors...
  11. doi Transcription arrest relief by S-II/TFIIS during gene expression in erythroblast differentiation
    Makiko Nagata
    Department of Developmental Biochemistry, Graduate School of Pharmaceutical Sciences, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Genes Cells 14:371-80. 2009
    ..These results suggest that S-II is involved in transcription of the Bcl-x and beta(major)-globin gene during erythroblast differentiation, by relieving transcription arrest or affecting histone modification on chromatin template...
  12. pmc Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X
    Sebastian Haesler
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    PLoS Biol 5:e321. 2007
    ..Our findings provide the first example of a functional gene analysis in songbirds and suggest that normal auditory-guided vocal motor learning requires FoxP2...
  13. pmc The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability
    Roy Drissen
    Erasmus MC, Department of Cell Biology, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 25:5205-14. 2005
    ..Our data provide an explanation for the hitherto unexplained severity of the EKLF null phenotype in erythropoiesis...
  14. pmc Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement
    Annika Johansson
    Porphyria Centre Sweden, Department of Laboratory Medicine, Division of Clinical Chemistry, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden
    Mol Med 9:193-9. 2003
    Acute intermittent porphyria (AIP) is a genetic disorder caused by a deficiency of porphobilinogen deaminase (PBGD), the 3rd enzyme in heme synthesis...
  15. ncbi Genetic linkage analysis and homology relationships of genes located on human chromosome 11q
    P Charmley
    Department of Microbiology and Immunology, University of California, Los Angeles 90024
    Genomics 10:608-17. 1991
    ..collagenase, N-CAM, dopamine-D2 receptor, apolipoproteins AI-CIII-AIV, CD3-epsilon, -delta, and -gamma, porphobilinogen deaminase, thy-1, and ets-1...
  16. ncbi Limited heme synthesis in porphobilinogen deaminase-deficient mice impairs transcriptional activation of specific cytochrome P450 genes by phenobarbital
    R Jover
    Biozentrum, University of Basel, Switzerland
    Eur J Biochem 267:7128-37. 2000
    ..A knockout mouse with targeted disruption of porphobilinogen deaminase, the third enzyme of the heme pathway, has been generated in our laboratory and used in the present ..
  17. pmc Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria
    R L Lindberg
    Biozentrum, University of Basel, CH 4056 Basel, Switzerland
    J Clin Invest 103:1127-34. 1999
    ..We have studied porphyric neuropathy in mice with a partial deficiency of porphobilinogen deaminase (PBGD)...
  18. ncbi Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
    R L Lindberg
    Department of Pharmacology, University of Basel, Switzerland
    Nat Genet 12:195-9. 1996
    ..human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD)...
  19. ncbi Structure of the mouse H2A.X gene and physical linkage to the UPS locus on chromosome 9: assignment of the human H2A.X gene to 11q23 by sequence analysis
    C Porcher
    INSERM U409, Faculte de Medecine Xavier Bichat, Universite Paris 7, France
    Genomics 25:312-3. 1995
    ..Sequence analysis revealed that this gene is situated in close proximity to the porphobilinogen deaminase (PBGD) gene in the opposite orientation. The synteny is conserved in human...
  20. ncbi Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF
    A C Perkins
    Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts, USA
    Nature 375:318-22. 1995
    ..Its stage-specific and beta-globin-gene-specific requirement suggests that EKLF may facilitate completion of the fetal-to-adult (haemoglobin gamma to beta) switch in humans...
  21. ncbi Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene
    B Nuez
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Nature 375:316-8. 1995
    ..Enucleated erythrocytes are formed but these do not contain the proper amount of haemoglobin. We conclude that the transcription factor EKLF is essential for the final steps of definitive erythropoiesis in fetal liver...
  22. pmc Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2
    R A Shivdasani
    Department of Medicine, Dana Farber Cancer Institute, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 92:8690-4. 1995
    ..Thus, regulation of globin gene transcription through NF-E2 binding sites in vivo is more complex than has been previously appreciated...
  23. ncbi Linkage of the structural gene for uroporphyrinogen I synthase to markers on mouse chromosome 9 in a cross between feral and inbred mice
    T K Antonucci
    Biochem Genet 20:703-10. 1982
    The Ups locus has been mapped to mouse chromosome 9 in a three-point cross. The observed gene order is centromere-Ups-15-Mpi-1-22-Mod-1. Ups is unlinked to Lv, which encodes the previous enzyme in the heme biosynthesis pathway...
  24. pmc Rare structural variants of human and murine uroporphyrinogen I synthase
    M H Meisler
    Proc Natl Acad Sci U S A 77:2848-52. 1980
    ..This system provides a convenient isozyme marker for genetic studies and will facilitate determination of the chromosomal location of the uroporphyrinogen I synthase locus...
  25. pmc Conserved linkage within a 4-cM region of mouse chromosome 9 and human chromosome 11
    T K Antonucci
    Genetics 107:463-75. 1984
    ..2 +/- 0.8) - es-17 - (3.0 +/- 1.0) - ups - (1.3 +/- 0.7) - alp-1 - (23.1 +/- 3.4) - mod-1 - (10.9 +/- 2.6) - acy-1...
  26. ncbi The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis
    C Beaumont
    Laboratoire de Genetique Moleculaire, Faculte de Medecine Xavier Bichat, Paris, France
    J Biol Chem 264:14829-34. 1989
    The porphobilinogen deaminase gene encodes the third enzyme of the heme biosynthetic pathway...
  27. ncbi Characterization of hypersensitive sites, protein-binding motifs, and regulatory elements in both promoters of the mouse porphobilinogen deaminase gene
    C Porcher
    Laboratoire de Genetique Moleculaire, Faculte X Bichat, Paris, France
    J Biol Chem 266:10562-9. 1991
    b>Porphobilinogen deaminase, the third enzyme in the heme biosynthetic pathway, is encoded by a gene having two different promoters...
  28. pmc An 'equalized cDNA library' by the reassociation of short double-stranded cDNAs
    M S Ko
    Furusawa MorphoGene Project, Research Development Corporation of Japan JRDC, Tsukuba
    Nucleic Acids Res 18:5705-11. 1990
    ..This indicates the usefulness of the current procedure for making equalized cDNA libraries...