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Gene Review

POMT1  -  protein-O-mannosyltransferase 1

Homo sapiens

Synonyms: Dolichyl-phosphate-mannose--protein mannosyltransferase 1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, ...
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Disease relevance of POMT1


High impact information on POMT1

  • The requirement of an active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex [4].
  • In view of the potential importance of this form of glycosylation for a number of developmental and neurobiological processes, the ability to assay mammalian protein O-mannosyltransferase activity should greatly facilitate progress in the identification and localization of O-mannosylated proteins and the elucidation of their functional roles [4].
  • Among these muscular dystrophies, Walker-Warburg syndrome is caused by mutations in the gene encoding putative protein O-mannosyltransferase 1 (POMT1), which is homologous to yeast protein O-mannosyltransferases [4].
  • Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities [5].
  • Recently, three mutations were reported in the POMT1 gene of patients who showed milder phenotypes than typical Walker-Warburg syndrome [6].

Biological context of POMT1


Anatomical context of POMT1


Associations of POMT1 with chemical compounds


Physical interactions of POMT1


Regulatory relationships of POMT1


Other interactions of POMT1


Analytical, diagnostic and therapeutic context of POMT1


  1. Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. Jurado, L.A., Coloma, A., Cruces, J. Genomics (1999) [Pubmed]
  2. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloğlu, H. Neuromuscul. Disord. (2005) [Pubmed]
  3. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H.G., Guicheney, P., van Bokhoven, H. Hum. Mutat. (2006) [Pubmed]
  4. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Manya, H., Chiba, A., Yoshida, A., Wang, X., Chiba, Y., Jigami, Y., Margolis, R.U., Endo, T. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  5. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Willer, T., Prados, B., Falcón-Pérez, J.M., Renner-Müller, I., Przemeck, G.K., Lommel, M., Coloma, A., Valero, M.C., de Angelis, M.H., Tanner, W., Wolf, E., Strahl, S., Cruces, J. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  6. Physical and functional association of human protein O-mannosyltransferases 1 and 2. Akasaka-Manya, K., Manya, H., Nakajima, A., Kawakita, M., Endo, T. J. Biol. Chem. (2006) [Pubmed]
  7. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Beltrán-Valero de Bernabé, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W.B., Cormand, B., Lehesjoki, A.E., Cruces, J., Voit, T., Walsh, C.A., van Bokhoven, H., Brunner, H.G. Am. J. Hum. Genet. (2002) [Pubmed]
  8. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Currier, S.C., Lee, C.K., Chang, B.S., Bodell, A.L., Pai, G.S., Job, L., Lagae, L.G., Al-Gazali, L.I., Eyaid, W.M., Enns, G., Dobyns, W.B., Walsh, C.A. Am. J. Med. Genet. A (2005) [Pubmed]
  9. Molecular cloning and characterization of rat Pomt1 and Pomt2. Manya, H., Chiba, A., Margolis, R.U., Endo, T. Glycobiology (2006) [Pubmed]
  10. Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. Bouchet, C., Vuillaumier-Barrot, S., Gonzales, M., Boukari, S., Bizec, C.L., Fallet, C., Delezoide, A.L., Moirot, H., Laquerriere, A., Encha-Razavi, F., Durand, G., Seta, N. Mol. Genet. Metab. (2007) [Pubmed]
  11. Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. Jiménez-Mallebrera, C., Torelli, S., Brown, S.C., Feng, L., Brockington, M., Sewry, C.A., Beltrán-Valero De Bernabé, D., Muntoni, F. Eur. J. Paediatr. Neurol. (2003) [Pubmed]
  12. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. Sabatelli, P., Columbaro, M., Mura, I., Capanni, C., Lattanzi, G., Maraldi, N.M., Beltràn-Valero de Barnabè, D., van Bokoven, H., Squarzoni, S., Merlini, L. Biochim. Biophys. Acta (2003) [Pubmed]
  13. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Akasaka-Manya, K., Manya, H., Endo, T. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  14. Mutation of the protein-O-mannosyltransferase enhances secretion of the human urokinase-type plasminogen activator in Hansenula polymorpha. Agaphonov, M.O., Sokolov, S.S., Romanova, N.V., Sohn, J.H., Kim, S.Y., Kalebina, T.S., Choi, E.S., Ter-Avanesyan, M.D. Yeast (2005) [Pubmed]
  15. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Louhichi, N., Triki, C., Quijano-Roy, S., Richard, P., Makri, S., Méziou, M., Estournet, B., Mrad, S., Romero, N.B., Ayadi, H., Guicheney, P., Fakhfakh, F. Neurogenetics (2004) [Pubmed]
  16. Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family. Fukuda, S., Sumii, M., Masuda, Y., Takahashi, M., Koike, N., Teishima, J., Yasumoto, H., Itamoto, T., Asahara, T., Dohi, K., Kamiya, K. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  17. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin. Yamamoto, T., Kato, Y., Kawaguchi, M., Shibata, N., Kobayashi, M. Medical electron microscopy : official journal of the Clinical Electron Microscopy Society of Japan. (2004) [Pubmed]
  18. O-mannosylation in Mammalian cells. Endo, T., Manya, H. Methods Mol. Biol. (2006) [Pubmed]
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