DYNC1H1

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DYNC1H1
Protein DYNC1H1 PDB 2BOR.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
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: 1778
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
Ensembl
UniProt
RefSeq (mRNA)

NM_001376

NM_030238

RefSeq (protein)

NP_001367.2

NP_084514.2

Location (UCSC) Chr 14: 101.96 – 102.05 Mb Chr 12: 110.6 – 110.67 Mb
PubMed search [1] [2]
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.[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 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]