From Wikipedia, the free encyclopedia
Jump to: navigation, search
Protein DYNC1H1 PDB 2BOR.png
Available structures
PDB Ortholog search: PDBe RCSB
Aliases DYNC1H1, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, CMT2O, dynein cytoplasmic 1 heavy chain 1
External IDs MGI: 103147 HomoloGene: 1053 GeneCards: DYNC1H1
RNA expression pattern
PBB GE DYNC1H1 gnf1h10152 at fs.png

PBB GE DYNC1H1 211928 at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 14: 101.96 – 102.05 Mb Chr 12: 110.6 – 110.67 Mb
PubMed search [1] [2]
View/Edit Human View/Edit Mouse

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[3][4][5]


DYNC1H1 has been shown to interact with PAFAH1B1[6] and CDC5L.[7]

Clinical relevance[edit]

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease[8] as well as spinal muscular atrophy with lower extremity predominance (SMA-LED).[9]


  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 2171247Freely accessible. PMID 16260502. 
  4. ^ 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 2120833Freely accessible. PMID 8666668. 
  5. ^ "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1". 
  6. ^ 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. United States. 156 (6): 959–68. doi:10.1083/jcb.200109046. ISSN 0021-9525. PMC 2173479Freely accessible. PMID 11889140. 
  7. ^ 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. ENGLAND. 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846Freely accessible. PMID 11101529. 
  8. ^ 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 3155164Freely accessible. PMID 21820100. 
  9. ^ 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). doi:10.1212/WNL.0b013e3182556c05. PMID 22459677. 

Further reading[edit]