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Wikipedia

DYNC1H1

April 12, 2024

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[5][6][7]

DYNC1H1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDYNC1H1, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, CMT2O, dynein cytoplasmic 1 heavy chain 1
External IDsOMIM: 600112 MGI: 103147 HomoloGene: 1053 GeneCards: DYNC1H1
Orthologs
SpeciesHumanMouse
Entrez

1778

13424

Ensembl

ENSG00000197102

ENSMUSG00000018707

UniProt

Q14204

Q9JHU4

RefSeq (mRNA)

NM_001376

NM_030238

RefSeq (protein)

NP_001367

NP_084514

Location (UCSC)Chr 14: 101.96 – 102.06 MbChr 12: 110.57 – 110.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions edit

DYNC1H1 has been shown to interact with PAFAH1B1[8] and CDC5L.[9]

Clinical relevance edit

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease[10] as well as spinal muscular atrophy with lower extremity predominance 1 (SMA-LED1).[11]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000197102 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018707 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB (November 2005). "Cytoplasmic dynein nomenclature". J Cell Biol. 171 (3): 411–3. doi:10.1083/jcb.200508078. PMC 2171247. PMID 16260502.
  6. ^ Vaisberg EA, Grissom PM, McIntosh JR (August 1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J Cell Biol. 133 (4): 831–42. doi:10.1083/jcb.133.4.831. PMC 2120833. PMID 8666668.
  7. ^ "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1".
  8. ^ Tai CY, 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). United States: 959–68. doi:10.1083/jcb.200109046. ISSN 0021-9525. PMC 2173479. PMID 11889140.
  9. ^ 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). ENGLAND: 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846. PMID 11101529.
  10. ^ Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S (August 2011). "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. doi:10.1016/j.ajhg.2011.07.002. PMC 3155164. PMID 21820100.
  11. ^ 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. doi:10.1212/WNL.0b013e3182556c05. PMC 3359582. PMID 22459677.

Further reading edit

  • Narayan D, Desai T, Banks A, et al. (1995). "Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization". Genomics. 22 (3): 660–1. doi:10.1006/geno.1994.1447. PMID 8001984.
  • Vaisberg EA, Koonce MP, McIntosh JR (1993). "Cytoplasmic dynein plays a role in mammalian mitotic spindle formation". J. Cell Biol. 123 (4): 849–58. doi:10.1083/jcb.123.4.849. PMC 2200153. PMID 8227145.
  • Vaughan KT, Mikami A, Paschal BM, et al. (1997). "Multiple mouse chromosomal loci for dynein-based motility". Genomics. 36 (1): 29–38. doi:10.1006/geno.1996.0422. PMID 8812413.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Nagase T, Ishikawa K, Nakajima D, et al. (1997). "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. doi:10.1093/dnares/4.2.141. PMID 9205841.
  • Neesen J, Koehler MR, Kirschner R, et al. (1997). "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. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155.
  • Byers HR, Yaar M, Eller MS, et al. (2000). "Role of cytoplasmic dynein in melanosome transport in human melanocytes". J. Invest. Dermatol. 114 (5): 990–7. doi:10.1046/j.1523-1747.2000.00957.x. PMID 10771482.
  • Habermann A, Schroer TA, Griffiths G, Burkhardt JK (2001). "Immunolocalization of cytoplasmic dynein and dynactin subunits in cultured macrophages: enrichment on early endocytic organelles". J. Cell Sci. 114 (Pt 1): 229–240. doi:10.1242/jcs.114.1.229. PMID 11112706.
  • Sasaki S, Shionoya A, Ishida M, et al. (2001). "A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system". Neuron. 28 (3): 681–96. doi:10.1016/S0896-6273(00)00146-X. PMID 11163259.
  • 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Payne C, Rawe V, Ramalho-Santos J, et al. (2004). "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. doi:10.1242/jcs.00784. PMID 14600259. S2CID 20578326.
  • Byers HR, Maheshwary S, Amodeo DM, Dykstra SG (2003). "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. doi:10.1046/j.1523-1747.2003.12481.x. PMID 14632200.
  • 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.
  • Navarro-Lérida I, Martínez Moreno M, Roncal F, et al. (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–46. doi:10.1002/pmic.200300528. PMID 14760703. S2CID 8868600.
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
  • Jin J, Smith FD, Stark C, et al. (2004). "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. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
  • 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. PMC 528928. PMID 15489334.
  • Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.

External links edit

  • Overview of all the structural information available in the PDB for UniProt: Q14204 (Cytoplasmic dynein 1 heavy chain 1) at the PDBe-KB.
 

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

April 12, 2024
dync1h1, cytoplasmic, dynein, heavy, chain, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2bor, 2botidentifiersaliases, dhc1, dhc1a, dnch1, dncl, dnecl, dyhc, dnchc1, smaled1, cmt2o, dynein, cytoplasmic, h. Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene 5 6 7 DYNC1H1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2BOR 2BOTIdentifiersAliasesDYNC1H1 DHC1 DHC1a DNCH1 DNCL DNECL DYHC Dnchc1 HL 3 SMALED1 p22 CMT2O dynein cytoplasmic 1 heavy chain 1External IDsOMIM 600112 MGI 103147 HomoloGene 1053 GeneCards DYNC1H1Gene location Human Chr Chromosome 14 human 1 Band14q32 31Start101 964 573 bp 1 End102 056 443 bp 1 Gene location Mouse Chr Chromosome 12 mouse 2 Band12 F1 12 60 7 cMStart110 567 886 bp 2 End110 633 379 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceprefrontal cortexstromal cell of endometriumBrodmann area 9postcentral gyrusspinal gangliaamygdalaAchilles tendonnucleus accumbenshippocampus properTop expressed inentorhinal cortexsuperior frontal gyrusexternal carotid arteryfacial motor nucleusanterior horn of spinal cordinternal carotid arterycerebellar cortexsuperior colliculusmedulla oblongataprimary motor cortexMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionmicrotubule motor activity nucleotide binding ATPase activity protein binding dynein light intermediate chain binding cytoskeletal motor activity ATP binding RNA binding minus end directed microtubule motor activity dynein light chain binding dynein intermediate chain bindingCellular componentcytoplasm cytosol centrosome membrane filopodium cytoplasmic dynein complex dynein complex microtubule extracellular exosome cytoskeleton extracellular matrix extracellular region azurophil granule lumen cytoplasmic microtubule cell cortex axon cytoplasmBiological processantigen processing and presentation of exogenous peptide antigen via MHC class II establishment of spindle localization mitotic spindle organization endoplasmic reticulum to Golgi vesicle mediated transport microtubule based movement G2 M transition of mitotic cell cycle P body assembly stress granule assembly neutrophil degranulation ciliary basal body plasma membrane docking regulation of mitotic spindle organization positive regulation of intracellular transport regulation of metaphase plate congression positive regulation of spindle assembly cytoplasmic microtubule organization minus end directed vesicle transport along microtubule cell cycle cell division sister chromatid cohesion regulation of G2 M transition of mitotic cell cycle transport positive regulation of cold induced thermogenesis mitotic cell cycle nuclear migration retrograde axonal transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez177813424EnsemblENSG00000197102ENSMUSG00000018707UniProtQ14204Q9JHU4RefSeq mRNA NM 001376NM 030238RefSeq protein NP 001367NP 084514Location UCSC Chr 14 101 96 102 06 MbChr 12 110 57 110 63 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Interactions 2 Clinical relevance 3 References 4 Further reading 5 External linksInteractions editDYNC1H1 has been shown to interact with PAFAH1B1 8 and CDC5L 9 Clinical relevance editMutations in this gene have been shown to cause dominant axonal Charcot Marie Tooth disease 10 as well as spinal muscular atrophy with lower extremity predominance 1 SMA LED1 11 References edit a b c GRCh38 Ensembl release 89 ENSG00000197102 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000018707 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Pfister KK Fisher EM Gibbons IR Hays TS Holzbaur EL McIntosh JR Porter ME Schroer TA Vaughan KT Witman GB King SM Vallee RB November 2005 Cytoplasmic dynein nomenclature J Cell Biol 171 3 411 3 doi 10 1083 jcb 200508078 PMC 2171247 PMID 16260502 Vaisberg EA Grissom PM McIntosh JR August 1996 Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles J Cell Biol 133 4 831 42 doi 10 1083 jcb 133 4 831 PMC 2120833 PMID 8666668 Entrez Gene DYNC1H1 dynein cytoplasmic 1 heavy chain 1 Tai CY 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 United States 959 68 doi 10 1083 jcb 200109046 ISSN 0021 9525 PMC 2173479 PMID 11889140 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 ENGLAND 6569 81 doi 10 1093 emboj 19 23 6569 ISSN 0261 4189 PMC 305846 PMID 11101529 Weedon MN Hastings R Caswell R Xie W Paszkiewicz K Antoniadi T Williams M King C Greenhalgh L Newbury Ecob R Ellard S August 2011 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 doi 10 1016 j ajhg 2011 07 002 PMC 3155164 PMID 21820100 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 doi 10 1212 WNL 0b013e3182556c05 PMC 3359582 PMID 22459677 Further reading editNarayan D Desai T Banks A et al 1995 Localization of the human cytoplasmic dynein heavy chain DNECL to 14qter by fluorescence in situ hybridization Genomics 22 3 660 1 doi 10 1006 geno 1994 1447 PMID 8001984 Vaisberg EA Koonce MP McIntosh JR 1993 Cytoplasmic dynein plays a role in mammalian mitotic spindle formation J Cell Biol 123 4 849 58 doi 10 1083 jcb 123 4 849 PMC 2200153 PMID 8227145 Vaughan KT Mikami A Paschal BM et al 1997 Multiple mouse chromosomal loci for dynein based motility Genomics 36 1 29 38 doi 10 1006 geno 1996 0422 PMID 8812413 Bonaldo MF Lennon G Soares MB 1997 Normalization and subtraction two approaches to facilitate gene discovery Genome Res 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Nagase T Ishikawa K Nakajima D et al 1997 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 doi 10 1093 dnares 4 2 141 PMID 9205841 Neesen J Koehler MR Kirschner R et al 1997 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 doi 10 1016 S0378 1119 97 00417 4 PMID 9373155 Byers HR Yaar M Eller MS et al 2000 Role of cytoplasmic dynein in melanosome transport in human melanocytes J Invest Dermatol 114 5 990 7 doi 10 1046 j 1523 1747 2000 00957 x PMID 10771482 Habermann A Schroer TA Griffiths G Burkhardt JK 2001 Immunolocalization of cytoplasmic dynein and dynactin subunits in cultured macrophages enrichment on early endocytic organelles J Cell Sci 114 Pt 1 229 240 doi 10 1242 jcs 114 1 229 PMID 11112706 Sasaki S Shionoya A Ishida M et al 2001 A LIS1 NUDEL cytoplasmic dynein heavy chain complex in the developing and adult nervous system Neuron 28 3 681 96 doi 10 1016 S0896 6273 00 00146 X PMID 11163259 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Payne C Rawe V Ramalho Santos J et al 2004 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 doi 10 1242 jcs 00784 PMID 14600259 S2CID 20578326 Byers HR Maheshwary S Amodeo DM Dykstra SG 2003 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 doi 10 1046 j 1523 1747 2003 12481 x PMID 14632200 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 Navarro Lerida I Martinez Moreno M Roncal F et al 2004 Proteomic identification of brain proteins that interact with dynein light chain LC8 Proteomics 4 2 339 46 doi 10 1002 pmic 200300528 PMID 14760703 S2CID 8868600 Colland F Jacq X Trouplin V et al 2004 Functional proteomics mapping of a human signaling pathway Genome Res 14 7 1324 32 doi 10 1101 gr 2334104 PMC 442148 PMID 15231748 Jin J Smith FD Stark C et al 2004 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 Bibcode 2004CBio 14 1436J doi 10 1016 j cub 2004 07 051 PMID 15324660 S2CID 2371325 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 PMC 528928 PMID 15489334 Andersen JS Lam YW Leung AK et al 2005 Nucleolar proteome dynamics Nature 433 7021 77 83 Bibcode 2005Natur 433 77A doi 10 1038 nature03207 PMID 15635413 S2CID 4344740 External links editOverview of all the structural information available in the PDB for UniProt Q14204 Cytoplasmic dynein 1 heavy chain 1 at the PDBe KB nbsp This article on a gene on human chromosome 14 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title DYNC1H1 amp oldid 1216083393, wikipedia, wiki, book, books, library,

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