DYNC2H1

DYNC2H1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4RH7
Identifiers
Aliases	DYNC2H1 , ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, dynein cytoplasmic 2 heavy chain 1
External IDs	OMIM: 603297; MGI: 107736; HomoloGene: 14468; GeneCards: DYNC2H1; OMA:DYNC2H1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q22.3 Start 103,109,410 bp [1] End 103,479,863 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 A1|9 Start 6,928,503 bp [2] End 7,184,446 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte bronchial epithelial cell right uterine tube Achilles tendon olfactory zone of nasal mucosa mucosa of paranasal sinus anterior pituitary tibia ventricular zone testicle Top expressed in spermatocyte spermatid otolith organ utricle superior cervical ganglion seminiferous tubule respiratory epithelium olfactory epithelium lens tail of embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule motor activity nucleotide binding ATPase activity cytoskeletal motor activity ATP binding minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding Cellular component cytoplasm Golgi apparatus cell projection membrane plasma membrane ciliary tip dynein complex microtubule extracellular exosome cytoskeleton cilium cytoplasmic dynein complex apical part of cell axoneme motile cilium Biological process Golgi organization multicellular organism development microtubule-based movement cell projection organization intraciliary transport involved in cilium assembly determination of left/right symmetry heart development dorsal/ventral pattern formation protein processing spinal cord motor neuron differentiation neuron differentiation embryonic limb morphogenesis forebrain development positive regulation of smoothened signaling pathway coronary vasculature development non-motile cilium assembly intraciliary retrograde transport cilium assembly protein localization to cilium Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79659 110350 Ensembl ENSG00000187240 ENSMUSG00000047193 UniProt Q8NCM8 Q45VK7 RefSeq (mRNA) NM_001080463 NM_001377 NM_024606 NM_029851 NM_001364519 NM_138307 RefSeq (protein) NP_001073932 NP_001368 NP_084127 NP_001351448 Location (UCSC) Chr 11: 103.11 – 103.48 Mb Chr 9: 6.93 – 7.18 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene. ^{[5] [6] [7]}

It is associated with Short rib-polydactyly syndrome type 3. ^[8]

It is also associated with Asphyxiating thoracic dysplasia. ^[9]

See also

• dynein

References

1. GRCh38: Ensembl release 89: ENSG00000187240 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047193 – 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. Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet. 82 (1–2): 123–5. doi:10.1159/000015085. PMID   9763680. S2CID   46818608.
6. Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 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.
7. "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
8. Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC   2667993 . PMID   19361615.
9. Dagoneau N, Goulet M, Geneviève D, et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. doi:10.1016/j.ajhg.2009.04.016. PMC   2681009 . PMID   19442771.

Further reading

• Gibbons BH, Asai DJ, Tang WJ, et al. (1994). "Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins". Mol. Biol. Cell. 5 (1): 57–70. doi:10.1091/mbc.5.1.57. PMC   301009 . PMID   8186465.
• Vaisberg EA, Grissom PM, McIntosh JR (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.
• Criswell PS, Ostrowski LE, Asai DJ (1997). "A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells". J. Cell Sci. 109 (7): 1891–8. doi:10.1242/jcs.109.7.1891. PMID   8832411.
• Kastury K, Taylor WE, Gutierrez M, et al. (1997). "Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11". Genomics. 44 (3): 362–4. doi:10.1006/geno.1997.4903. PMID   9325061.
• Grissom PM, Vaisberg EA, McIntosh JR (2002). "Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2". Mol. Biol. Cell. 13 (3): 817–29. doi:10.1091/mbc.01-08-0402. PMC   99601 . PMID   11907264.
• Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. CiteSeerX   10.1.1.579.1376 . doi:10.1093/dnares/9.2.47. PMID   12056414.
• Mikami A, Tynan SH, Hama T, et al. (2003). "Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells". J. Cell Sci. 115 (Pt 24): 4801–8. doi: 10.1242/jcs.00168 . PMID   12432068.
• 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.
• 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.
• Yokota T, Kouno J, Adachi K, et al. (2006). "Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin". Acta Neuropathol. 111 (1): 29–38. doi:10.1007/s00401-005-1085-6. PMID   16320026. S2CID   22206187.