DYNC1H1

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DYNC1H1
Protein DYNC1H1 PDB 2BOR.png
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 IDsMGI: 103147 HomoloGene: 1053 GeneCards: DYNC1H1
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for DYNC1H1
Genomic location for DYNC1H1
Band14q32.31Start101,964,510 bp[1]
End102,056,443 bp[1]
RNA expression pattern
PBB GE DYNC1H1 gnf1h10152 at fs.png

PBB GE DYNC1H1 211928 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001376

NM_030238

RefSeq (protein)

NP_001367

NP_084514

Location (UCSC)Chr 14: 101.96 – 102.06 MbChr 12: 110.6 – 110.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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


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 (SMA-LED).[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:".
  4. ^ "Mouse PubMed Reference:".
  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, 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.
  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. ENGLAND. 19 (23): 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). doi:10.1212/WNL.0b013e3182556c05. PMC 3359582. PMID 22459677.

Further reading[edit]