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1 to 25 of 35  Show
  1. 1
    "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1."
    Ghosh A.K., Majumder M., Steele R., White R.A., Ray R.B.
    Mol. Cell. Biol. 21:655-662(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH ENO1, SUBCELLULAR LOCATION.
    Category: Function, Subcellular Location, Interaction, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  2. 2
    "Human cDNA complete cds homolog to yeast protein P38334."
    Hu G.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  3. 3
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 5588 other entries.

  4. 4
    "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].
    Category: Sequences.
    Tissue: Brain and Lung carcinoma.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50469 other entries.

  5. 5
    "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda."
    Gedeon A.K., Colley A., Jamieson R., Thompson E.M., Rogers J., Sillence D., Tiller G.E., Mulley J.C., Gecz J.
    Nat. Genet. 22:400-404(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
    Category: Expression.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  6. 6
    "Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda."
    Gecz J., Hillman M.A., Gedeon A.K., Cox T.C., Baker E., Mulley J.C.
    Genomics 69:242-251(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENOMIC ORGANIZATION.
    Category: Family & Domains.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  7. 7
    Category: Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 13 and mapped to 1449 other entries.

  8. 8
    "TRAPPC2L is a novel, highly conserved TRAPP-interacting protein."
    Scrivens P.J., Shahrzad N., Moores A., Morin A., Brunet S., Sacher M.
    Traffic 10:724-736(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN TRAPP COMPLEX, INTERACTION WITH TRAPPC2L.
    Category: Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 6 and mapped to 4 other entries.

  9. 9
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 18097 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-119, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: PTM / Processing, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 13319 other entries.

  11. 11
    "An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda."
    Takahashi T., Takahashi I., Tsuchida S., Oyama K., Komatsu M., Saito H., Takada G.
    Clin. Genet. 61:319-320(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A novel mutation produces a truncated protein which may be useful in determining carboxy-terminal functionImported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  12. 12
    "Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men."
    Fiedler J., Bittner M., Puhl W., Brenner R.E.
    Clin. Genet. 62:94-95(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: SEDL mutations are not a common cause of early primary osteoarthritis in men.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  13. 13
    "[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]."
    Gao C., Luo Q., Wang H.L., Gao X.Q., Fan Q.T., Wang H., Sheng G.Y., Zhou J.H., Gao T.Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20:15-18(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the X-linked spondyloepiphyseal dysplasia tarda.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  14. 14
    "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family."
    Xiao C., Zhang S., Wang J., Qiu W., Chi L., Li Y., Su Z.
    Mutat. Res. 525:61-65(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A previously unreported deletion of T in exon 5 of SEDL gene (293delT) was observed in 2 spondyloepiphyseal dysplasia probands in a Chinese family; seven individuals in the family carry the mutation resulting in frameshift and a putative truncated proteinImported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  15. 15
    "Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4."
    Shaw M.A., Brunetti-Pierri N., Kadasi L., Kovacova V., Van Maldergem L., De Brasi D., Salerno M., Gecz J.
    Clin. Genet. 64:235-242(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: 3 new SEDL mutations were found: 1 in the non-canonical 5' splice site of intron 4 (IVS4+4T>C) a deletion in exon 6 [333-336del(GAAT) & a 1.335-kb deletion (in5/ex6del).Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  16. 16
    "Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)."
    Savarirayan R., Thompson E., Gecz J.
    Eur. J. Hum. Genet. 11:639-642(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Sedl protein may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complexImported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  17. 17
    "X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families."
    Fiedler J., Le Merrer M., Mortier G., Heuertz S., Faivre L., Brenner R.E.
    Hum. Mutat. 24:103-103(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Six novel SEDL mutations found in European X-linked spondyloepiphyseal dysplasia tarda patients.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  18. 18
    "[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]."
    Lu J.F., Ma H.W., Jiang J., Niu G.H., Liu X.M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:309-311(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in SEDL patients but not detected in unrelated normal male individuals.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  19. 19
    "Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site."
    Ma H.W., Jiang J., Lu J.F., Guo R., Niu G.H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:251-253(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Data show that mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  20. 20
    "[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]."
    Zhou W.J., Zhou S.Y., Huang S.W., Zhou J.P., Xu X.M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:15-18(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL)Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  21. 21
    "[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]."
    Lin Y., Rao S.Q., Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:150-153(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  22. 22
    "Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda."
    Xiong F., Gao J., Li J., Liu Y., Feng G., Fang W., Chang H., Xie J., Zheng H., Li T., He L.
    Eur. J. Hum. Genet. 17:510-516(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: results illustrate how disruption of the AT donor site in a rare AT-AC intron leading to a canonical GT donor site resulted in a multitude of aberrant transcripts thus impairing exon definition of the SEDL gene.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  23. 23
    "A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family."
    Guo H., Xu X., Wang K., Zhang B., Deng G., Wang Y., Bai Y.
    J. Genet. 88:87-91(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  24. 24
    "A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree."
    Xia X.Y., Cui Y.X., Zhou Y.C., Zhou X., Shi Y.C., Wei L., Li X.J., Huang Y.F., Huang T.T.
    Clin. Chim. Acta 410:39-42(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Identification of the novel insertion mutation (c.370-371insA) in this X-linked spondyloepiphyseal dysplasia tarda family is predicted to result in frameshifts and generate a premature stop codonImported.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  25. 25
    "Interaction of Sedlin with PAM14."
    Liu X., Wang Y., Zhu H., Zhang Q., Xing X., Wu B., Song L., Fan L.
    J. Cell. Biochem. 109:1129-1133(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14.Imported.
    Source: GeneRIF:6399.

    This publication is mapped to 7 other entries.

1 to 25 of 35  Show
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