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1 to 25 of 48  Show
  1. 1
    "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1."
    Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., Inazu T., Mitsuhashi H., Takahashi S., Takeuchi M., Herrmann R., Straub V., Talim B., Voit T., Topaloglu H., Toda T., Endo T.
    Dev. Cell 1:717-724(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, CATALYTIC ACTIVITY, PATHWAY, SUBCELLULAR LOCATION, TOPOLOGY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY, VARIANTS MDDGA3 ARG-493 AND ASN-550, VARIANT VAL-623, MUTAGENESIS OF 1-MET--ILE-65.
    Category: Function, Subcellular Location, Pathology & Biotech, Expression, Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MDDGA3 LYS-223 AND TYR-269, VARIANT VAL-623.
    Category: Pathology & Biotech, Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).
  3. 3
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-623.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1015 other entries.

  4. 4
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT VAL-623.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12927 other entries.

  5. 5
    "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 5830 other entries.

  6. 6
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  7. 7
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-250 AND VAL-623.
    Category: Sequences.
    Tissue: Placenta.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50450 other entries.

  8. 8
    "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I."
    Zhang W., Betel D., Schachter H.
    Biochem. J. 361:153-162(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 84-660 (ISOFORM 1), FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, PATHWAY, TISSUE SPECIFICITY, VARIANT VAL-623.
    Category: Function, Expression, Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).
  9. 9
    "Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan."
    Xiong H., Kobayashi K., Tachikawa M., Manya H., Takeda S., Chiyonobu T., Fujikake N., Wang F., Nishimoto A., Morris G.E., Nagai Y., Kanagawa M., Endo T., Toda T.
    Biochem. Biophys. Res. Commun. 350:935-941(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH FKTN.
    Category: Subcellular Location, Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 4 other entries.

  10. 10
    "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-7, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: PTM / Processing, Sequences.
    Tissue: Erythroleukemia.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 13477 other entries.

  11. 11
    "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: Sequences.
    Tissue: Liver.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 11657 other entries.

  12. 12
    "Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2."
    Larsen I.S.B., Narimatsu Y., Joshi H.J., Yang Z., Harrison O.J., Brasch J., Shapiro L., Honig B., Vakhrushev S.Y., Clausen H., Halim A.
    J. Biol. Chem. 292:11586-11598(2017) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY.
    Category: Function.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 5 and mapped to 12 other entries.

  13. 13
    "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease."
    Manya H., Sakai K., Kobayashi K., Taniguchi K., Kawakita M., Toda T., Endo T.
    Biochem. Biophys. Res. Commun. 306:93-97(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223; TYR-269 AND ARG-493, CATALYTIC ACTIVITY, COFACTOR.
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 3 other entries.

  14. 14
    "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1."
    Akasaka-Manya K., Manya H., Kobayashi K., Toda T., Endo T.
    Biochem. Biophys. Res. Commun. 320:39-44(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION OF CATALYTIC DOMAIN, CHARACTERIZATION OF VARIANTS MDDGA3 LYS-223 AND TYR-269.
    Category: Pathology & Biotech, Sequences, Family & Domains.
    Source: UniProtKB/Swiss-Prot (reviewed).
  15. 15
    "Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of alpha-dystroglycan."
    Kuwabara N., Manya H., Yamada T., Tateno H., Kanagawa M., Kobayashi K., Akasaka-Manya K., Hirose Y., Mizuno M., Ikeguchi M., Toda T., Hirabayashi J., Senda T., Endo T., Kato R.
    Proc. Natl. Acad. Sci. U.S.A. 113:9280-9285(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.21 ANGSTROMS) OF 92-250 IN COMPLEXES WITH CARBOHYDRATE; DAG1 PEPTIDE; MANGANESE; MANNOSE AND UDP, DISULFIDE BONDS, FUNCTION, CATALYTIC ACTIVITY, COFACTOR, PATHWAY, DOMAIN, MUTAGENESIS OF ARG-129; ASP-179; ARG-207; ASP-474; MET-481; ASN-507 AND TRP-600.
    Category: Function, Pathology & Biotech, PTM / Processing, Interaction, Structure, Family & Domains.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  16. 16
    "POMGnT1 gene alterations in a family with neurological abnormalities."
    Vervoort V.S., Holden K.R., Ukadike K.C., Collins J.S., Saul R.A., Srivastava A.K.
    Ann. Neurol. 56:143-148(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 3 other entries.

  17. 17
    Cited for: VARIANTS MDDGA3 SER-425 AND TYR-490.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 3 other entries.

  18. 18
    "POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum."
    Biancheri R., Bertini E., Falace A., Pedemonte M., Rossi A., D'Amico A., Scapolan S., Bergamino L., Petrini S., Cassandrini D., Broda P., Manfredi M., Zara F., Santorelli F.M., Minetti C., Bruno C.
    Arch. Neurol. 63:1491-1495(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGA3 ARG-198 AND TYR-490, VARIANT MDDGB3 GLN-311.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  19. 19
    Cited for: VARIANTS MDDGA3 PRO-176; HIS-367 AND HIS-427, VARIANT MDDGB3 TYR-490.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  20. 20
    Cited for: VARIANT MDDGC3 ASN-556, CHARACTERIZATION OF VARIANT MDDGC3 ASN-556.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  21. 21
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 4 and mapped to 35 other entries.

  22. 22
    Cited for: INVOLVEMENT IN RP76, VARIANTS RP76 LYS-156; SER-287 AND ALA-502, CHARACTERIZATION OF VARIANTS RP76 LYS-156 AND SER-287, FUNCTION, CATALYTIC ACTIVITY, PATHWAY.
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 3 other entries.

  23. 23
    "Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa."
    Wang N.H., Chen S.J., Yang C.F., Chen H.W., Chuang H.P., Lu Y.H., Chen C.H., Wu J.Y., Niu D.M., Chen Y.T.
    Invest. Ophthalmol. Vis. Sci. 57:3601-3609(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RP76, VARIANT RP76 ARG-120, CHARACTERIZATION OF VARIANT RP76 ARG-120, FUNCTION, CATALYTIC ACTIVITY, PATHWAY.
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 3 other entries.

  24. 24
    "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients."
    Triki C., Louhichi N., Meziou M., Choyakh F., Kechaou M.S., Jlidi R., Mhiri C., Fakhfakh F., Ayadi H.
    Neuromuscul. Disord. 13:4-12(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the MEB locus in three Tunisian patients.
    Source: GeneRIF:55624.

    This publication is mapped to 13 other entries.

  25. 25
    "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb."
    Abbott K.L., Troupe K., Lee I., Pierce M.
    Exp. Cell Res. 312:2837-2850(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Our results suggest that PomGnT1 enzymes involved in the O-mannosyl glycosylation pathway play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells.
    Source: GeneRIF:55624.

    This publication is mapped to 4 other entries.

1 to 25 of 48  Show
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