Literature DB >> 10496079

Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes.

S Ikegawa1, M Isomura, Y Koshizuka, Y Nakamura.   

Abstract

Large-scale DNA sequencing, coupled with in silico gene trapping, is a robust approach to identifying unknown genes in selected genomic regions. Using this approach we have isolated a novel human gene, PROSC (for proline synthetase co-transcribed [bacterial homolog]), from human chromosome 8p11.2, and its mouse counterpart. The human PROSC gene spanned 17 kb of genomic DNA; its cDNA was 2530 bp long, with 8 exons that included an open reading frame of 825 bp (275 amino acids). The mouse cDNA (Prosc), 1995 bp long, was predicted to encode 274 amino acids. PROSC is ubiquitously expressed in human tissues and has been highly conserved among divergent species from bacteria to mammals, suggesting its important cellular function. The gene product is likely to be a soluble cytoplasmic protein, but its function remains to be determined.

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Year:  1999        PMID: 10496079     DOI: 10.1007/s100380050172

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  6 in total

1.  Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Authors:  Niklas Darin; Emma Reid; Laurence Prunetti; Lena Samuelsson; Ralf A Husain; Matthew Wilson; Basma El Yacoubi; Emma Footitt; W K Chong; Louise C Wilson; Helen Prunty; Simon Pope; Simon Heales; Karine Lascelles; Mike Champion; Evangeline Wassmer; Pierangelo Veggiotti; Valérie de Crécy-Lagard; Philippa B Mills; Peter T Clayton
Journal:  Am J Hum Genet       Date:  2016-12-01       Impact factor: 11.025

2.  Bigram-PGK: phosphoglycerylation prediction using the technique of bigram probabilities of position specific scoring matrix.

Authors:  Abel Chandra; Alok Sharma; Abdollah Dehzangi; Daichi Shigemizu; Tatsuhiko Tsunoda
Journal:  BMC Mol Cell Biol       Date:  2019-12-20

3.  Customizing Functionalized Cofactor Mimics to Study the Human Pyridoxal 5'-Phosphate-Binding Proteome.

Authors:  Anja Fux; Martin Pfanzelt; Volker C Kirsch; Annabelle Hoegl; Stephan A Sieber
Journal:  Cell Chem Biol       Date:  2019-08-22       Impact factor: 8.116

4.  Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.

Authors:  Sibtain Ahmed; Ralph J DeBerardinis; Min Ni; Bushra Afroze
Journal:  Ann Med Surg (Lond)       Date:  2020-12-01

5.  Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.

Authors:  Kristian Vestergaard Jensen; Maria Frid; Tommy Stödberg; Michela Barbaro; Anna Wedell; Mette Christensen; Mads Bak; Jakob Ek; Camilla Gøbel Madsen; Niklas Darin; Sabine Grønborg
Journal:  JIMD Rep       Date:  2019-09-30

6.  Biochemical and Proteomic Studies of Human Pyridoxal 5'-Phosphate-Binding Protein (PLPBP).

Authors:  Anja Fux; Stephan A Sieber
Journal:  ACS Chem Biol       Date:  2019-12-26       Impact factor: 4.634

  6 in total

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