Literature DB >> 15068588

Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library.

Enpeng Zhao1, Yao Li, Xuping Fu, Jia-Yi Zhang, Huawu Zeng, Li Zeng, Yun Lin, Jinzhong Chen, Gang Yin, Ji Qian, Kang Ying, Yi Xie, Robert Chunhua Zhao, Yu-Min Mao.   

Abstract

The glycosyltransferases (GTs) catalyze the synthesis of the carbohydrate portions of glycoproteins, glycolipids, and proteoglycans. Here we report the cloning and characterization of a novel human GTDC1 (glycosyltransferase-like domain containing 1) gene, which locates on human chromosome 2q22. The GTDC1 cDNA is 2954 bp in length, encoding a putative protein of 458 amino acids. At protein level human GTDC1 has 75 and 37% identity with its homologous counterparts in the mouse and fruitfly, respectively. RT-PCR analysis revealed its relatively high expression level in the adult lung, spleen, testis, and peripheral blood leukocyte.

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Year:  2004        PMID: 15068588     DOI: 10.1089/104454904322964788

Source DB:  PubMed          Journal:  DNA Cell Biol        ISSN: 1044-5498            Impact factor:   3.311


  5 in total

1.  Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.

Authors:  Milene Vianna Mulatinho; Cassio Luiz de Carvalho Serao; Fernanda Scalco; David Hardekopf; Sona Pekova; Kristin Mrasek; Thomas Liehr; Anja Weise; Nagesh Rao; Juan Clinton Llerena
Journal:  Mol Cytogenet       Date:  2012-06-11       Impact factor: 2.009

2.  A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.

Authors:  Aurélien Capitan; Aurélie Allais-Bonnet; Alain Pinton; Brigitte Marquant-Le Guienne; Daniel Le Bourhis; Cécile Grohs; Stéphan Bouet; Laëtitia Clément; Laura Salas-Cortes; Eric Venot; Stéphane Chaffaux; Bernard Weiss; Arnaud Delpeuch; Guy Noé; Marie-Noëlle Rossignol; Sarah Barbey; Dominique Dozias; Emilie Cobo; Harmonie Barasc; Aurélie Auguste; Maëlle Pannetier; Marie-Christine Deloche; Emeline Lhuilier; Olivier Bouchez; Diane Esquerré; Gérald Salin; Christophe Klopp; Cécile Donnadieu; Céline Chantry-Darmon; Hélène Hayes; Yves Gallard; Claire Ponsart; Didier Boichard; Eric Pailhoux
Journal:  PLoS One       Date:  2012-11-09       Impact factor: 3.240

3.  A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.

Authors:  Haiming Yuan; Lina Zhang; Mengfan Chen; Junping Zhu; Zhe Meng; Liyang Liang
Journal:  Mol Cytogenet       Date:  2015-12-23       Impact factor: 2.009

4.  Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

Authors:  Jayaram Vijayakrishnan; James Studd; Peter Broderick; Ben Kinnersley; Amy Holroyd; Philip J Law; Rajiv Kumar; James M Allan; Christine J Harrison; Anthony V Moorman; Ajay Vora; Eve Roman; Sivaramakrishna Rachakonda; Sally E Kinsey; Eamonn Sheridan; Pamela D Thompson; Julie A Irving; Rolf Koehler; Per Hoffmann; Markus M Nöthen; Stefanie Heilmann-Heimbach; Karl-Heinz Jöckel; Douglas F Easton; Paul D P Pharaoh; Alison M Dunning; Julian Peto; Frederico Canzian; Anthony Swerdlow; Rosalind A Eeles; ZSofia Kote-Jarai; Kenneth Muir; Nora Pashayan; Mel Greaves; Martin Zimmerman; Claus R Bartram; Martin Schrappe; Martin Stanulla; Kari Hemminki; Richard S Houlston
Journal:  Nat Commun       Date:  2018-04-09       Impact factor: 14.919

5.  Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.

Authors:  Maria Florencia Gosso; Cristian Rohr; Bianca Brun; Guadalupe Mejico; Fernanda Madeira; Fabian Fay; Melina Klurfan; Martin Vazquez
Journal:  Hum Genome Var       Date:  2018-08-01
  5 in total

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