DYNC1H1 explained

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.^{[1] [2] [3]}

Interactions

DYNC1H1 has been shown to interact with PAFAH1B1^[4] and CDC5L.^[5]

Clinical relevance

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease^[6] as well as spinal muscular atrophy with lower extremity predominance 1 (SMA-LED1).^[7]

Further reading

• Narayan D, Desai T, Banks A . Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization. . Genomics . 22 . 3 . 660–1 . 1995 . 8001984 . 10.1006/geno.1994.1447 . etal. free .
• Vaisberg EA, Koonce MP, McIntosh JR . Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. . J. Cell Biol. . 123 . 4 . 849–58 . 1993 . 8227145 . 10.1083/jcb.123.4.849 . 2200153 .
• Vaughan KT, Mikami A, Paschal BM . Multiple mouse chromosomal loci for dynein-based motility. . Genomics . 36 . 1 . 29–38 . 1997 . 8812413 . 10.1006/geno.1996.0422 . etal.
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Nagase T, Ishikawa K, Nakajima D . Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. . DNA Res. . 4 . 2 . 141–50 . 1997 . 9205841 . 10.1093/dnares/4.2.141 . etal. free .
• Neesen J, Koehler MR, Kirschner R . Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. . Gene . 200 . 1–2 . 193–202 . 1997 . 9373155 . 10.1016/S0378-1119(97)00417-4 . etal.
• Byers HR, Yaar M, Eller MS . Role of cytoplasmic dynein in melanosome transport in human melanocytes. . J. Invest. Dermatol. . 114 . 5 . 990–7 . 2000 . 10771482 . 10.1046/j.1523-1747.2000.00957.x . etal. free .
• Habermann A, Schroer TA, Griffiths G, Burkhardt JK . Immunolocalization of cytoplasmic dynein and dynactin subunits in cultured macrophages: enrichment on early endocytic organelles. . J. Cell Sci. . 114 . Pt 1 . 229–240 . 2001 . 10.1242/jcs.114.1.229 . 11112706 .
• Sasaki S, Shionoya A, Ishida M . A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. . Neuron . 28 . 3 . 681–96 . 2001 . 11163259 . 10.1016/S0896-6273(00)00146-X . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . etal. 2002PNAS...9916899M . free .
• Payne C, Rawe V, Ramalho-Santos J . Preferentially localized dynein and perinuclear dynactin associate with nuclear pore complex proteins to mediate genomic union during mammalian fertilization. . J. Cell Sci. . 116 . Pt 23 . 4727–38 . 2004 . 14600259 . 10.1242/jcs.00784 . 20578326 . etal.
• Byers HR, Maheshwary S, Amodeo DM, Dykstra SG . Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes. . J. Invest. Dermatol. . 121 . 4 . 813–20 . 2003 . 14632200 . 10.1046/j.1523-1747.2003.12481.x . free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Navarro-Lérida I, Martínez Moreno M, Roncal F . Proteomic identification of brain proteins that interact with dynein light chain LC8. . Proteomics . 4 . 2 . 339–46 . 2004 . 14760703 . 10.1002/pmic.200300528 . 8868600 . etal.
• Colland F, Jacq X, Trouplin V . Functional proteomics mapping of a human signaling pathway. . Genome Res. . 14 . 7 . 1324–32 . 2004 . 15231748 . 10.1101/gr.2334104 . 442148 . etal.
• Jin J, Smith FD, Stark C . Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. . Curr. Biol. . 14 . 16 . 1436–50 . 2004 . 15324660 . 10.1016/j.cub.2004.07.051 . 2371325 . etal. free . 2004CBio...14.1436J .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Andersen JS, Lam YW, Leung AK . Nucleolar proteome dynamics. . Nature . 433 . 7021 . 77–83 . 2005 . 15635413 . 10.1038/nature03207 . etal. 2005Natur.433...77A . 4344740 .

Notes and References

1. Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB . Cytoplasmic dynein nomenclature . J Cell Biol . 171 . 3 . 411–3 . November 2005 . 16260502 . 2171247 . 10.1083/jcb.200508078 .
2. Vaisberg EA, Grissom PM, McIntosh JR . Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles . J Cell Biol . 133 . 4 . 831–42 . August 1996 . 8666668 . 2120833 . 10.1083/jcb.133.4.831 .
3. Web site: Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1.
4. Tai . Chin-Yin . Dujardin Denis L . Faulkner Nicole E . Vallee Richard B . March 2002 . Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function . J. Cell Biol. . 156 . 6 . 959–68 . United States. 0021-9525. 11889140 . 10.1083/jcb.200109046 . 2173479 .
5. Ajuh . P . Kuster B . Panov K . Zomerdijk J C . Mann M . Lamond A I . December 2000 . Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry . EMBO J. . 19 . 23 . 6569–81 . ENGLAND. 0261-4189. 11101529 . 10.1093/emboj/19.23.6569 . 305846 .
6. Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S . Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease . Am. J. Hum. Genet. . 89 . 2 . 308–12 . August 2011 . 21820100 . 3155164 . 10.1016/j.ajhg.2011.07.002 .
7. Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH . 2012 . Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy . Neurology . 78 . 16 . 1714–1720. 10.1212/WNL.0b013e3182556c05 . 22459677 . 3359582.