Literature DB >> 7842009

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

Y Suzuki1, Y Aoki, Y Ishida, Y Chiba, A Iwamatsu, T Kishino, N Niikawa, Y Matsubara, K Narisawa.   

Abstract

Holocarboxylase synthetase (HCS) plays an essential role in biotin utilization in eukaryotic cells and its deficiency causes biotin-responsive multiple carboxylase deficiency in humans. We have cloned the human HCS cDNA and show that antiserum against the recombinant protein immunoprecipitates human HCS. A one base deletion resulting in a premature termination and a missense mutation (Leu to Pro) were found in cells from siblings with HCS deficiency. Human HCS shows homology to BirA, which acts as both a biotin-[acetyl-CoA-carboxylase] ligase and a biotin repressor in E. coli, suggesting a functional relationship between the two proteins. The human HCS gene maps to chromosome 21q22.1.

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Year:  1994        PMID： 7842009     DOI： 10.1038/ng1094-122

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  38 in total

1.  Selectivity in post-translational biotin addition to five human carboxylases.

Authors:  Maria Ingaramo; Dorothy Beckett
Journal:  J Biol Chem       Date:  2011-11-28       Impact factor: 5.157

Review 2.  Novel roles of holocarboxylase synthetase in gene regulation and intermediary metabolism.

Authors:  Janos Zempleni; Dandan Liu; Daniel Teixeira Camara; Elizabeth L Cordonier
Journal:  Nutr Rev       Date:  2014-03-28       Impact factor: 7.110

3.  Human holocarboxylase synthetase with a start site at methionine-58 is the predominant nuclear variant of this protein and has catalytic activity.

Authors:  Baolong Bao; Subhashinee S K Wijeratne; Rocio Rodriguez-Melendez; Janos Zempleni
Journal:  Biochem Biophys Res Commun       Date:  2011-07-23       Impact factor: 3.575

4.  The polypeptide Syn67 interacts physically with human holocarboxylase synthetase, but is not a target for biotinylation.

Authors:  Yousef I Hassan; Hideaki Moriyama; Janos Zempleni
Journal:  Arch Biochem Biophys       Date:  2009-12-21       Impact factor: 4.013

5.  Protein biotinylation in higher plants: characterization of biotin holocarboxylase synthetase activity from pea (Pisum sativum) leaves.

Authors:  G Tissot; D Job; R Douce; C Alban
Journal:  Biochem J       Date:  1996-03-01       Impact factor: 3.857

6.  Evidence for multiple forms of biotin holocarboxylase synthetase in pea (Pisum sativum) and in Arabidopsis thaliana: subcellular fractionation studies and isolation of a cDNA clone.

Authors:  G Tissot; R Douce; C Alban
Journal:  Biochem J       Date:  1997-04-01       Impact factor: 3.857

7.  Lysine biotinylation and methionine oxidation in the heat shock protein HSP60 synergize in the elimination of reactive oxygen species in human cell cultures.

Authors:  Yong Li; Sridhar A Malkaram; Jie Zhou; Janos Zempleni
Journal:  J Nutr Biochem       Date:  2014-01-28       Impact factor: 6.048

8.  Prokaryotic BirA ligase biotinylates K4, K9, K18 and K23 in histone H3.

Authors:  Keyna Kobza; Gautam Sarath; Janos Zempleni
Journal:  BMB Rep       Date:  2008-04-30       Impact factor: 4.778

9.  Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

Authors:  A León-Del-Rio; D Leclerc; B Akerman; N Wakamatsu; R A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  1995-05-09       Impact factor: 11.205

10.  Biotin sensing at the molecular level.

Authors:  Dorothy Beckett
Journal:  J Nutr       Date:  2008-12-04       Impact factor: 4.798
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