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DYNC2H1

Struktur yang tersedia

Pencarian ortolog: PDBe RCSB

Daftar kode ID PDB
4RH7

Pengidentifikasi

Alias

DYNC2H1, ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, dynein cytoplasmic 2 heavy chain 1

ID Eksternal

OMIM: 603297; MGI: 107736; HomoloGene: 14468; GeneCards: DYNC2H1; OMA:DYNC2H1 - orthologs

Pola ekspresi RNA

Bgee

Manusia

Tikus (ortologi)

Ekspresi tertinggi di

secondary oocyte

bronchial epithelial cell

right uterine tube

Tendon Achilles

olfactory zone of nasal mucosa

mucosa of paranasal sinus

Adenohipofisis

Tulang kering

ventricular zone

Testis

Ekspresi tertinggi di

spermatocyte

spermatid

otolith organ

utricle

superior cervical ganglion

seminiferous tubule

respiratory epithelium

olfactory epithelium

Lensa mata

tail of embryo

Referensi data ekspresi selengkapnya

BioGPS


Data ekspresi referensi lebih lanjut

Ontologi gen
Fungsi molekuler	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
Komponen seluler	sitoplasma badan Golgi cell projection membran membran sel ciliary tip dynein complex Mikrotubulus extracellular exosome Sitoskeleton Silia cytoplasmic dynein complex apical part of cell axoneme motile cilium
Proses biologis	Golgi organization multicellular organism development microtubule-based movement cell projection organization intraciliary transport involved in cilium assembly determination of left/right symmetry development of the heart 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
Sumber:Amigo / QuickGO

Ortologi

Spesies

Manusia

Tikus

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)

n/a

PubMed search

^[1]

^[2]

Wikidata

Lihat/Sunting Manusia

Lihat/Sunting Tikus

Rantai berat 1 dinein sitoplasmik 2 adalah sebuah protein yang pada manusia disandikan oleh gen DYNC2H1.^[3]^[4]^[5]

Protein ini dikaitkan dengan sindrom iga pendek–polidaktili tipe 3.^[6]

Protein ini juga dikaitkan dengan displasia toraks asfiksia.^[7]

Lihat pula

dinein

Referensi

↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
↑ 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.
↑ 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.

Bacaan lanjutan

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.

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