Play Video
1
Scientists Discover New Molecular Motor
Scientists Discover New Molecular Motor 'Clutch'
::2012/10/12::
NEXT >>
RESULTS [2 .. 52]
From Wikipedia, the free encyclopedia
Jump to: navigation, search
Dynein, cytoplasmic 1, heavy chain 1
Protein DYNC1H1 PDB 2BOR.png
Rendering based on PDB 2BOR.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols DYNC1H1 ; DHC1; DHC1a; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; SMALED1; p22
External IDs OMIM600112 MGI103147 HomoloGene1053 GeneCards: DYNC1H1 Gene
RNA expression pattern
PBB GE DYNC1H1 211928 at tn.png
PBB GE DYNC1H1 gnf1h10152 at tn.png
More reference expression data
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:
102.43 – 102.52 Mb
Chr 12:
110.6 – 110.67 Mb
PubMed search [1] [2]

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


Interactions[edit]

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

Clinical relevance[edit]

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 (SMA-LED).[7]

References[edit]

  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 (November 2005). "Cytoplasmic dynein nomenclature". J Cell Biol 171 (3): 411–3. doi:10.1083/jcb.200508078. PMC 2171247. PMID 16260502. 
  2. ^ 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. 
  3. ^ "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. (United States) 156 (6): 959–68. doi:10.1083/jcb.200109046. ISSN 0021-9525. PMC 2173479. PMID 11889140. 
  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. (ENGLAND) 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846. PMID 11101529. 
  6. ^ 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. 
  7. ^ Harms M B, Ori-McKenney K M, Scoto M, Tuck E P, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly M M, Miller L J, Jani-Acsadi A, Pestronk A, Shy M E, Muntoni F, Vallee R B, Baloh R H (2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology 78 (16). doi:10.1212/WNL.0b013e3182556c05. PMID 22459677.  edit

Further reading[edit]



Wikipedia content is licensed under the GFDL License
Powered by YouTube
LEGAL
  • Mashpedia © 2014