DYNC1H1

DYNC1H1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BOR, 2BOT
Identifiers
Aliases	DYNC1H1 , DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, CMT2O, dynein cytoplasmic 1 heavy chain 1
External IDs	OMIM: 600112 MGI: 103147 HomoloGene: 1053 GeneCards: DYNC1H1
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q32.31 Start 101,964,573 bp [1] End 102,056,443 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12 F1|12 60.7 cM Start 110,567,886 bp [2] End 110,633,379 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence prefrontal cortex stromal cell of endometrium Brodmann area 9 postcentral gyrus spinal ganglia amygdala Achilles tendon nucleus accumbens hippocampus proper Top expressed in entorhinal cortex superior frontal gyrus external carotid artery facial motor nucleus anterior horn of spinal cord internal carotid artery cerebellar cortex superior colliculus medulla oblongata primary motor cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule 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 binding Cellular component cytoplasm 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 cytoplasm Biological process antigen 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 transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 12: 110.57 – 110.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Interactions

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

Clinical relevance

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

1. GRCh38: Ensembl release 89: ENSG00000197102 - Ensembl, May 2017
2. 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

• 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

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