OBSCN

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Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
250px
PDB rendering based on 1v1c.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols OBSCN ; DKFZp666E245; FLJ14124; KIAA1556; MGC120409; MGC120410; MGC120411; MGC120412; MGC138590; UNC89
External IDs OMIM: 608616 HomoloGene70869
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 84033
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na


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    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_052843 (mRNA)
NP_443075 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |na (mRNA)
na (protein)

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, also known as OBSCN, is a human gene.[1]

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. While several transcript variants likely exist for this gene, the full-length nature of only one has been described to date.[1]

References

  1. 1.0 1.1 "Entrez Gene: OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF".

Further reading

  • Nagase T, Kikuno R, Nakayama M; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. PMID 10997877.
  • Young P, Ehler E, Gautel M (2001). "Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly". J. Cell Biol. 154 (1): 123–36. PMID 11448995.
  • Bang ML, Centner T, Fornoff F; et al. (2001). "The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system". Circ. Res. 89 (11): 1065–72. PMID 11717165.
  • Russell MW, Raeker MO, Korytkowski KA, Sonneman KJ (2002). "Identification, tissue expression and chromosomal localization of human Obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases". Gene. 282 (1–2): 237–46. PMID 11814696.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Bagnato P, Barone V, Giacomello E; et al. (2003). "Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles". J. Cell Biol. 160 (2): 245–53. doi:10.1083/jcb.200208109. PMID 12527750.
  • Kontrogianni-Konstantopoulos A, Jones EM, Van Rossum DB, Bloch RJ (2004). "Obscurin is a ligand for small ankyrin 1 in skeletal muscle". Mol. Biol. Cell. 14 (3): 1138–48. doi:10.1091/mbc.E02-07-0411. PMID 12631729.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Kontrogianni-Konstantopoulos A, Catino DH, Strong JC; et al. (2004). "Obscurin regulates the organization of myosin into A bands". Am. J. Physiol., Cell Physiol. 287 (1): C209–17. doi:10.1152/ajpcell.00497.2003. PMID 15013951.
  • Brandenberger R, Wei H, Zhang S; et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
  • Sutter SB, Raeker MO, Borisov AB, Russell MW (2005). "Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases". Dev. Genes Evol. 214 (7): 352–9. doi:10.1007/s00427-004-0413-5. PMID 15185077.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Borisov AB, Sutter SB, Kontrogianni-Konstantopoulos A; et al. (2007). "Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing". Histochem. Cell Biol. 125 (3): 227–38. doi:10.1007/s00418-005-0069-x. PMID 16205939.
  • Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
  • Fukuzawa A, Idowu S, Gautel M (2007). "Complete human gene structure of obscurin: implications for isoform generation by differential splicing". J. Muscle Res. Cell. Motil. 26 (6–8): 427–34. doi:10.1007/s10974-005-9025-6. PMID 16625316.
  • Gregory SG, Barlow KF, McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
  • Price ND, Trent J, El-Naggar AK; et al. (2007). "Highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas". Proc. Natl. Acad. Sci. U.S.A. 104 (9): 3414–9. doi:10.1073/pnas.0611373104. PMID 17360660.
  • Bowman AL, Kontrogianni-Konstantopoulos A, Hirsch SS; et al. (2007). "Different obscurin isoforms localize to distinct sites at sarcomeres". FEBS Lett. 581 (8): 1549–54. doi:10.1016/j.febslet.2007.03.011. PMID 17382936.
  • Arimura T, Matsumoto Y, Okazaki O; et al. (2007). "Structural analysis of obscurin gene in hypertrophic cardiomyopathy". Biochem. Biophys. Res. Commun. 362 (2): 281–7. doi:10.1016/j.bbrc.2007.07.183. PMID 17716621.
  • Borzok MA, Catino DH, Nicholson JD; et al. (2007). "Mapping the binding site on small ankyrin 1 for obscurin". J. Biol. Chem. 282 (44): 32384–96. doi:10.1074/jbc.M704089200. PMID 17720975.

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