Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1)

[Edit]

DHC1; DHC1a; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; p22; Dynein heavy chain, cytosolic; Cytoplasmic dynein heavy chain 1; Cytoplasmic dynein 1 heavy chain 1

Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1)
Dyneins are a group of microtubule-activated ATPases that serve to convert chemical energy into mechanical energy. Cytoplasmic dynein has been implicated in a variety of other forms of intracellular motility, including retrograde axonal transport, protein sorting between apical and basolateral surfaces, and redistribution of organelles like endosomes and lysosomes. The predicted partial protein sequence shares 99% and 34% identity with rat DHC1a and human DNHC2, respectively. Antibodies against DHC1 recognized a high molecular mass protein on Western blots of extracts from several mammalian cell lines. Northern blot analysis revealed that DHC1 is expressed as an approximately 15-kb mRNA in several mammalian cells lines and human tissues, including those that make neither cilia nor flagella.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ209Hu01 Recombinant Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAJ209Hu21 Monoclonal Antibody to Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) WB; IHC; ICC; IP.
PAJ209Hu01 Polyclonal Antibody to Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) WB; IHC; ICC; IP.
Assay Kits SEJ209Hu ELISA Kit for Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Dynein, Cytoplasmic 1, Heavy Chain 1 (DYNC1H1) ELISA Kit Customized Service Offer
  1. "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. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles."J. Cell Biol. 133:831-842(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Cytoplasmic dynein plays a role in mammalian mitotic spindle formation."J. Cell Biol. 123:849-858(1993) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  6. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  13. "A de novo paradigm for mental retardation."Nat. Genet. 42:1109-1112(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease."Am. J. Hum. Genet. 89:308-312(2011) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects."J. Med. Genet. 49:179-183(2012) [PubMed] [Europe PMC] [Abstract]
  16. "A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance."Neurogenetics 13:327-332(2012) [PubMed] [Europe PMC] [Abstract]
  17. "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy."Neurology 78:1714-1720(2012) [PubMed] [Europe PMC] [Abstract]
  18. "Diagnostic exome sequencing in persons with severe intellectual disability."N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly." Nat. Genet. 45:639-647(2013) [PubMed] [Europe PMC] [Abstract]
  20. "Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies."Hum. Mutat. 36:287-291(2015) [PubMed] [Europe PMC] [Abstract]
  21. "Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development."Hum. Mutat. 35:298-302(2014) [PubMed] [Europe PMC] [Abstract]