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1 to 25 of 63  Show
  1. 1
    "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: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, INVOLVEMENT IN SEDT.
    Category: Pathology & Biotech, Expression, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  2. 2
    "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-130 (ISOFORM 3).
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12927 other entries.

  3. 3
    "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2134 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] (ISOFORM 1).
    Category: Sequences.
    Tissue: Ovary and Prostate.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50448 other entries.

  5. 5
    "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, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
    Category: Subcellular Location, Sequences, Family & Domains.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  6. 6
    Category: Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

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

  7. 7
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 18117 other entries.

  8. 8
    "C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking."
    Scrivens P.J., Noueihed B., Shahrzad N., Hul S., Brunet S., Sacher M.
    Mol. Biol. Cell 22:2083-2093(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN TRAPP COMPLEX.
    Category: Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 10 other entries.

  9. 9
    "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 13410 other entries.

  10. 10
    "TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment."
    Milev M.P., Hasaj B., Saint-Dic D., Snounou S., Zhao Q., Sacher M.
    J. Cell Biol. 209:221-234(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
    Category: Subcellular Location.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2 other entries.

  11. 11
    "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not."
    Gecz J., Shaw M.A., Bellon J.R., de Barros Lopes M.
    Gene 320:137-144(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT SEDL TYR-47.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  12. 12
    "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.

  13. 13
    "SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1."
    Jeyabalan J., Nesbit M.A., Galvanovskis J., Callaghan R., Rorsman P., Thakker R.V.
    PLoS ONE 5:E10646-E10646(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SELF-ASSOCIATION, INTERACTION WITH ENO1; PITX1 AND SF1, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SEDL TYR-47; LEU-73; SER-83 AND ASP-130.
    Category: Subcellular Location, Pathology & Biotech, Interaction, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 16 other entries.

  14. 14
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  15. 15
    "A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree."
    Grunebaum E., Arpaia E., MacKenzie J.J., Fitzpatrick J., Ray P.N., Roifman C.M.
    J. Med. Genet. 38:409-411(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SEDT SER-83.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  16. 16
    "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo."
    Seemann J., Jokitalo E.J., Warren G.
    Mol. Biol. Cell 11:635-645(2000) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5683757.

    This publication is cited by 1 and mapped to 130 other entries.

  17. 17
    "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion."
    Allan B.B., Moyer B.D., Balch W.E.
    Science 289:444-448(2000) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5683757.

    This publication is mapped to 125 other entries.

  18. 18
    "TRAPP stimulates guanine nucleotide exchange on Ypt1p."
    Wang W., Sacher M., Ferro-Novick S.
    J. Cell Biol. 151:289-296(2000) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5683757.

    This publication is mapped to 22 other entries.

  19. 19
    "Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering."
    Moyer B.D., Allan B.B., Balch W.E.
    Traffic 2:268-276(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5683757.

    This publication is mapped to 128 other entries.

  20. 20
    "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b."
    Weide T., Bayer M., Koester M., Siebrasse J.-P., Peters R., Barnekow A.
    EMBO Rep. 2:336-341(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5683757.

    This publication is mapped to 127 other entries.

  21. 21
    "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115."
    Shorter J., Beard M.B., Seemann J., Dirac-Svejstrup A.B., Warren G.
    J. Cell Biol. 157:45-62(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5683757.

    This publication is cited by 1 and mapped to 61 other entries.

  22. 22
    "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 function.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  23. 23
    "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: Pathology & Biotech, Sequences.
    Annotation: SEDL mutations are not a common cause of early primary osteoarthritis in men.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  24. 24
    "[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.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

  25. 25
    "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 protein.
    Source: GeneRIF:6399.

    This publication is mapped to 2 other entries.

1 to 25 of 63  Show
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