Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile

Peng, Chengwei; Togayachi, Akira; Kwon, Yeondae; Xie, Cheng; Wu, Gongdong; Zou, Xia; Sato, Takashi; Ito, Hiromi; Tachibana, Kunihide; Kubota, Tomomi; Noce, Toshiaki; Narimatsu, Hisashi; Zhang, Yan

doi:10.1016/j.bbrc.2010.10.084

Cited by 50 publications

(43 citation statements)

References 37 publications

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“…The tree was generated by comparing amino acid sequences of the family with the ClustalW algorithm. Recently, two distinct numbers were assigned to some of the isozymes by Peng et al (8) and Raman et al (7), and both numbers separated by a slash are shown in the tree. WBSCR17 is one of the isozymes that belong to the Y subfamily.…”

Section: Methodsmentioning

confidence: 99%

“…pt-GalNAc-T is also known as WilliamsBeuren syndrome (WBS) chromosome region 17 (WBSCR17) (11), one of the genes identified in the flanking region (7q11.22) of the chromosomal deletion region (7q11.23) in the genome of WBS patients. In addition, different numbers were recently assigned to some of the GalNAc-T family, and pt-GalNAc-T/ WBSCR17 was designated GalNAc-T17 and -T19 by Peng et al (8), and Raman et al (7), respectively (Fig. 1A).…”

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confidence: 99%

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A Putative Polypeptide N-Acetylgalactosaminyltransferase/Williams-Beuren Syndrome Chromosome Region 17 (WBSCR17) Regulates Lamellipodium Formation and Macropinocytosis

Nakayama

Nakamura

Oki

et al. 2012

Journal of Biological Chemistry

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Background: WBSCR17 is a potential polypeptide N-acetylgalactosaminyltransferase with unknown function. Results: WBSCR17, induced with N-acetylglucosamine, regulated O-glycosylation, lamellipodium formation, and macropinocytosis. Conclusion: Mucin-type O-glycosylation may be involved in lamellipodium formation and membrane trafficking through macropinocytosis. Significance: The data suggest that mucin-type O-glycosylation modulates the dynamic membrane transport of the cell and may be involved in the control of nutrient uptake.

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Section: Methodsmentioning

confidence: 99%

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confidence: 99%

A Putative Polypeptide N-Acetylgalactosaminyltransferase/Williams-Beuren Syndrome Chromosome Region 17 (WBSCR17) Regulates Lamellipodium Formation and Macropinocytosis

Nakayama

Nakamura

Oki

et al. 2012

Journal of Biological Chemistry

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“…This first step occurs in the Golgi apparatus, and is mediated by UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferases (pp-GalNAc-T; EC 2.4.1.41), which transfer GalNAc from the nucleotide sugar to the acceptor residues (1). Polypeptide N-acetylgalactosaminyltransferase-like protein 5 [GALNTL5, also described as pp-GalNac-T19 (2) or GalNac-T20 (3); Refseq accession no. : NP_660335.2] is classified as a member of the ppGalNAc-T family because GALNTL5 possesses highly conserved catalytic domains of pp-GalNAc-T, whereas it uniquely lacks the conserved lectin domain at the C terminus.…”

mentioning

confidence: 99%

“…: NP_660335.2] is classified as a member of the ppGalNAc-T family because GALNTL5 possesses highly conserved catalytic domains of pp-GalNAc-T, whereas it uniquely lacks the conserved lectin domain at the C terminus. Thus far, 20 distinct pp-GalNAc-T genes have been identified in the human genome (2,(4)(5)(6). The in vitro enzymatic activities as a glycosyltransferase have been confirmed for 14 members of this family using acceptor peptide substrates (2, 7), but not identified for the other 6 members, including GALNTL5.…”

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confidence: 99%

A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility

Takasaki

Tachibana

Ogasawara

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

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For normal fertilization in mammals, it is important that functionally mature sperm are motile and have a fully formed acrosome. The glycosyltransferase-like gene, human polypeptide N-acetylgalactosaminyltransferase-like protein 5 (GALNTL5), belongs to the polypeptide N-acetylgalactosamine-transferase (pp-GalNAc-T) gene family because of its conserved glycosyltransferase domains, but it uniquely truncates the C-terminal domain and is expressed exclusively in human testis. However, glycosyltransferase activity of the human GALNTL5 protein has not been identified by in vitro assay thus far. Using mouse Galntl5 ortholog, we have examined whether GALNTL5 is a functional molecule in spermatogenesis. It was observed that mouse GALNTL5 localizes in the cytoplasm of round spermatids in the region around the acrosome of elongating spermatids, and finally in the neck region of spermatozoa. We attempted to establish Galntl5-deficient mutant mice to investigate the role of Galntl5 in spermiogenesis and found that the heterozygous mutation affected male fertility due to immotile sperm, which is diagnosed as asthenozoospermia, an infertility syndrome in humans. Furthermore, the heterozygous mutation of Galntl5 attenuated glycolytic enzymes required for motility, disrupted protein loading into acrosomes, and caused aberrant localization of the ubiquitin-proteasome system. By comparing the protein compositions of sperm from infertile males, we found a deletion mutation of the exon of human GALNTL5 gene in a patient with asthenozoospermia. This strongly suggests that the genetic mutation of human GALNTL5 results in male infertility with the reduction of sperm motility and that GALNTL5 is a functional molecule essential for mammalian sperm formation.

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“…The glycosyltransferase‐like gene, human polypeptide N ‐acetylgalactosaminyltransferase‐like protein 5 ( GALNTL5 )—also described as pp‐GalNac‐T1982 or GalNac‐T2083—belongs to the polypeptide N ‐acetylgalactosaminyltransferase gene family because of its conserved glycosyltransferase domains, but it is uniquely truncated at the C ‐terminal domain and is expressed exclusively in the human testis 84, 85, 86. In order to investigate the biological role of human GALNTL5 (7q36.1) in the testis, the localization of the mouse orthologous protein, GALNTL5, was observed in spermatogenesis and Galntl5 ‐deficient mice were established 87.…”

Section: Culprit Genes That Have Been Identified In Autosomesmentioning

confidence: 99%

Human male infertility and its genetic causes

Miyamoto

Minase

Shin

et al. 2017

Reprod Medicine & Biology

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BackgroundInfertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation.MethodsWe mainly describe the SYCP3 and PLK4 genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility.ResultsUp to now, The 17 genes causing male infertility by their mutation have been reported in human.ConclusionsInfertility caused by nonobstructive azoospermia (NOA) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only MD‐TESE can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective MD‐TESE procedures.

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Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile

Cited by 50 publications

References 37 publications

A Putative Polypeptide N-Acetylgalactosaminyltransferase/Williams-Beuren Syndrome Chromosome Region 17 (WBSCR17) Regulates Lamellipodium Formation and Macropinocytosis

A Putative Polypeptide N-Acetylgalactosaminyltransferase/Williams-Beuren Syndrome Chromosome Region 17 (WBSCR17) Regulates Lamellipodium Formation and Macropinocytosis

A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility

Human male infertility and its genetic causes

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