SEDL

Summary

Gene Symbol: SEDL
Description: trafficking protein particle complex 2
Alias: MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, trafficking protein particle complex subunit 2, sedlin
Species: human
Products:     SEDL

Top Publications

  1. Gecz J, Shaw M, Bellon J, de Barros Lopes M. Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. Gene. 2003;320:137-44 pubmed
    ..evidence that recombinant human SEDL protein is able to functionally complement the Saccharomyces cerevisiae TRS20 (TRAPP subunit 20 gene) knockout mutant...
  2. Gedeon A, Colley A, Jamieson R, Thompson E, Rogers J, Sillence D, et al. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet. 1999;22:400-4 pubmed
    Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive osteochondrodysplasia that occurs in approximately two of every one million people...
  3. Shaw M, Brunetti Pierri N, Kadasi L, Kovácová V, Van Maldergem L, De Brasi D, et al. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin Genet. 2003;64:235-42 pubmed
    ..The gene responsible for SED tarda, SEDL, has been identified in Xp22. We report on three novel SEDL mutations...
  4. Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner R. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat. 2004;24:103 pubmed
    ..All sequence variations identified are either deletions of complete exons or predicted to result in a premature stop codon or to lead into splicing defects and are associated with a loss of considerable parts of the sedlin protein.
  5. Grunebaum E, Arpaia E, MacKenzie J, Fitzpatrick J, Ray P, Roifman C. A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. J Med Genet. 2001;38:409-11 pubmed
  6. Takahashi T, Takahashi I, Tsuchida S, Oyama K, Komatsu M, Saito H, et al. An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. Clin Genet. 2002;61:319-20 pubmed
  7. Mumm S, Zhang X, Vacca M, D ESPOSITO M, Whyte M. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene. 2001;273:285-93 pubmed
    Mutations in the sedlin gene cause spondyloepiphyseal dysplasia tarda (SEDT), a rare X-linked chondrodysplasia...
  8. Savarirayan R, Thompson E, Gecz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Eur J Hum Genet. 2003;11:639-42 pubmed
    Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened ..
  9. Fan L, Yu W, Zhu X. Interaction of Sedlin with chloride intracellular channel proteins. FEBS Lett. 2003;540:77-80 pubmed
    b>Sedlin is an evolutionarily conserved protein encoded by the causative gene SEDL for spondyloepiphyseal dysplasia tarda. Nevertheless, how Sedlin mutations cause the disease remains unknown...

More Information

Publications47

  1. Jeyabalan J, Nesbit M, Galvanovskis J, Callaghan R, Rorsman P, Thakker R. SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. PLoS ONE. 2010;5:e10646 pubmed publisher
    b>SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is ubiquitously expressed and interacts with the transcription factors c-myc promoter-binding protein 1 (MBP1), pituitary homeobox 1 (PITX1) and ..
  2. Gedeon A, Tiller G, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, et al. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68:1386-97 pubmed
    The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene...
  3. Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H. Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. Am J Med Genet. 2001;99:328-30 pubmed
    ..The nature of the mutation predicted that the SEDL protein (Sedlin) was not produced in the proband, indicating that loss of Sedlin caused SEDT.
  4. Ghosh A, Majumder M, Steele R, White R, Ray R. A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1. Mol Cell Biol. 2001;21:655-62 pubmed
    ..MIP-2A has a sequence similarity with an unknown mRNA and SEDL. Mutations in the SEDL gene, located at human chromosome Xp22, has recently been implicated with an X-linked ..
  5. Gecz J, Hillman M, Gedeon A, Cox T, Baker E, Mulley J. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics. 2000;69:242-51 pubmed
    Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder of endochondral bone formation caused by mutations in the SEDL gene. Here we present the structural analysis and subcellular localization of human SEDL...
  6. Liu L, Li N, Zhao Z, Li W, Xia W. Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. Joint Bone Spine. 2015;82:125-8 pubmed publisher
    Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene...
  7. Mohamoud H, Ahmed S, Jelani M, Alrayes N, Childs K, Vadgama N, et al. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. Sci Rep. 2018;8:2053 pubmed publisher
    ..TRAPPC6A joins a growing list of proteins belonging to the TRAPP complex, implicated in clinical syndromes with neurodevelopmental abnormalities. ..
  8. Antonios R, Abdul Fattah M, Arba Mosquera S, Abiad B, Sleiman K, Awwad S. Single-step transepithelial versus alcohol-assisted photorefractive keratectomy in the treatment of high myopia: a comparative evaluation over 12?months. Br J Ophthalmol. 2017;101:1106-1112 pubmed publisher
    ..Baseline characteristics were similar between the two groups (p>0.05). The SE deviation from target (SEDT) at 1?week, 1, 3, 6 and 12?months follow-up visits were similar between groups (p=0.428). At 12?months, 81...
  9. Okubo R, Sanada L, Castania V, Louzada M, de Paula F, Maffulli N, et al. Jumping exercise preserves bone mineral density and mechanical properties in osteopenic ovariectomized rats even following established osteopenia. Osteoporos Int. 2017;28:1461-1471 pubmed publisher
    ..rats (treatment program) were randomly allocated into another four groups (n = 10): sham-operated sedentary (SHAM-SEDt), OVX sedentary (OVX-SEDt), sham-operated exercised (SHAM-EXt), and OVX exercised (OVX-EXt)...
  10. Toumpanakis D, Vassilakopoulou V, Sigala I, Zacharatos P, Vraila I, Karavana V, et al. The role of Src & ERK1/2 kinases in inspiratory resistive breathing induced acute lung injury and inflammation. Respir Res. 2017;18:209 pubmed publisher
    ..ERK1/2 inhibition did not significantly change total lung injury score compared to 6 h IRB. Src and ERK1/2 are activated in the lung following IRB and participate in IRB-induced lung injury. ..
  11. Singh S, Rajoria K. Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. J Ayurveda Integr Med. 2016;7:249-254 pubmed publisher
    Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, ..
  12. Tokunaga M, Shiheido H, Tabata N, Sakuma Yonemura Y, Takashima H, Horisawa K, et al. MIP-2A is a novel target of an anilinoquinazoline derivative for inhibition of tumour cell proliferation. PLoS ONE. 2013;8:e76774 pubmed publisher
    ..This study suggests that the simultaneous targeting of hCAP-G2 and MIP-2A is a promising strategy for the development of antitumor drugs as a treatment for intractable tumours. ..
  13. Fan X, Tang L. Aberrant and alternative splicing in skeletal system disease. Gene. 2013;528:21-6 pubmed publisher
    ..splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP5...
  14. Davis E, Savage J, Willer J, Jiang Y, Angrist M, Androutsopoulos A, et al. Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. Clin Genet. 2014;85:359-64 pubmed publisher
    ..These consequences are predicted to disrupt function of SEDLIN/TRAPPC2...
  15. Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, et al. Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science. 2012;337:1668-72 pubmed
    ..We found that TANGO1 recruited Sedlin, a TRAPP component that is defective in spondyloepiphyseal dysplasia tarda (SEDT), and that Sedlin was required ..
  16. Zong M, Wu X, Chan C, Choi M, Chan H, Tanner J, et al. The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. PLoS ONE. 2011;6:e23350 pubmed publisher
    ..TRAPPC2 serves as an adaptor for the formation of TRAPPII or TRAPPIII in mammalian cells. The mammalian equivalent of TRAPPII is likely different from the yeast TRAPPII structurally. ..
  17. Ishikawa T, Toyama T, Nakamura Y, Tamada K, Shimizu H, Ninagawa S, et al. UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific manner. J Cell Biol. 2017;216:1761-1774 pubmed publisher
    ..as UPR transducers and that BBF2H7 regulates a complete set of genes (Sec23/24/13/31, Tango1, Sedlin, and KLHL12) essential for the enlargement of COPII vesicles to accommodate long-chain collagen for ..
  18. Xia X, Cui Y, Zhou Y, Zhou X, Shi Y, Wei L, et al. A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. Clin Chim Acta. 2009;410:39-42 pubmed publisher
    Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature, dysplasia of the large joints and flattened thoracic and lumber vertebral ..
  19. Zhou W, Zhou S, Huang S, Zhou J, Xu X. [Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:15-8 pubmed
    To identify the SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL) and to establish a genotyping assay for rapid diagnosis of this X-linked recessive disorder...
  20. Ma H, Jiang J, Lu J, Guo R, Niu G. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:251-3 pubmed
    To further investigate the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL) and provide useful information for the prevention and treatment of the disease...
  21. Li J, Chai X, Lu L, Zhu J, Du X, Zhao L. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:604-7 pubmed publisher
    To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT)...
  22. Fiedler J, Bittner M, Puhl W, Brenner R. Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. Clin Genet. 2002;62:94-5 pubmed
  23. Wu X, Deng K, Wang C, Li G, Lin J, Wang R, et al. [Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:476-80 pubmed publisher
    ..potential mutation of TRAPPC2 gene in a Chinese family affected with X-linked spondyloepiphyseal dysplasia tarda (X-SEDL), and explore its underlying molecular mechanism...
  24. Lu J, Ma H, Jiang J, Niu G, Liu X. [Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21:309-11 pubmed
    To investigate further the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL)...
  25. Wang H, Wu W, Xu Z, Xie J. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. Clin Chim Acta. 2013;425:30-3 pubmed publisher
    The X-linked form of spondyloepiphyseal dysplasia tarda (SEDT, OMIM# 313400) is a rare osteochondrodysplasia caused by mutations in the SEDL (TRAPPC2, OMIM# 300202) gene...
  26. Duarte D, Hul S, Sacher M. A yeast two hybrid screen identifies SPATA4 as a TRAPP interactor. FEBS Lett. 2011;585:2676-81 pubmed publisher
    ..Our results suggest a role for SPATA4 in membrane traffic and a specialized function for TRAPP in spermatocytes. ..
  27. Scrivens P, Noueihed B, Shahrzad N, Hul S, Brunet S, Sacher M. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. Mol Biol Cell. 2011;22:2083-93 pubmed publisher
    ..Our data are consistent with the absence of a TRAPP I-equivalent complex in mammalian cells, suggesting that the fundamental unit of mammalian TRAPP is distinct from that characterized in S. cerevisiae. ..
  28. Gao C, Luo Q, Wang H, Gao X, Fan Q, Wang H, et al. [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:15-8 pubmed
    To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level...
  29. Liu X, Wang Y, Zhu H, Zhang Q, Xing X, Wu B, et al. Interaction of Sedlin with PAM14. J Cell Biochem. 2010;109:1129-33 pubmed publisher
    b>Sedlin is an evolutionarily conserved and ubiquitously expressed protein that is encoded by the gene SEDL. Mutations in the latter are known to be causative for spondyloepiphyseal dysplasia tarda...
  30. Adams M, Soares M, Kerlavage A, Fields C, Venter J. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. Nat Genet. 1993;4:373-80 pubmed
    ..37% of the clones were identified, based on matches to over 320 different genes in the public databases. Of these, two proteins similar to the Alzheimer's disease amyloid precursor protein were identified. ..
  31. Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, et al. 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. Eur J Hum Genet. 2009;17:510-6 pubmed publisher
    X-linked spondyloepiphyseal dysplasia tarda can be caused by mutations in the SEDL gene...
  32. Lin Y, Rao S, Yang Y. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:150-3 pubmed
    ..the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China...
  33. Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, et al. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. J Genet. 2009;88:87-91 pubmed
  34. Milev M, Hasaj B, Saint Dic D, Snounou S, Zhao Q, Sacher M. TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment. J Cell Biol. 2015;209:221-34 pubmed publisher
    ..Our study identifies a moonlighting function for TRAMM during mitosis and adds a new component that regulates kinetochore stability and CENP-E recruitment. ..
  35. Xia X, Yu J, Li W, Li N, Wu Q, Zhou X, et al. A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. Genet Mol Res. 2014;13:3362-70 pubmed publisher
    ..The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree...
  36. Xiao C, Zhang S, Wang J, Qiu W, Chi L, Li Y, et al. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. Mutat Res. 2003;525:61-5 pubmed
    Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the ..
  37. Bernard L, Chitayat D, Weksberg R, Van Allen M, Langlois S. Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. J Med Genet. 1996;33:432-4 pubmed
    ..0 at theta = 0 with marker DXS1043 and the other family has a maximal lod score of 1.2 at theta = 0 with markers DXS1224 and DXS418. Both families therefore support the previously reported gene localisation. ..