DNAH5
| Dynein, axonemal, heavy chain 5 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | DNAH5 ; CILD3; DNAHC5; HL1; KTGNR; PCD | ||||||||||||
| External IDs | OMIM: 603335 MGI: 107718 HomoloGene: 1048 GeneCards: DNAH5 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 1767 | 110082 | |||||||||||
| Ensembl | ENSG00000039139 | ENSMUSG00000022262 | |||||||||||
| UniProt | Q8TE73 | Q8VHE6 | |||||||||||
| RefSeq (mRNA) | NM_001369 | NM_133365 | |||||||||||
| RefSeq (protein) | NP_001360 | NP_579943 | |||||||||||
| Location (UCSC) |
Chr 5: 13.69 – 13.94 Mb |
Chr 15: 28.2 – 28.47 Mb | |||||||||||
| PubMed search | |||||||||||||
Dynein heavy chain 5, axonemal is a protein that in humans is encoded by the DNAH5 gene.[1][2][3]
References
- ↑ Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S (Sep 1997). "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment". FEBS Lett 412 (2): 325–30. doi:10.1016/S0014-5793(97)00800-4. PMID 9256245.
- ↑ Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H (Jan 2002). "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry". Nat Genet 30 (2): 143–4. doi:10.1038/ng817. PMID 11788826.
- ↑ "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5".
External links
Further reading
- Jouannet P, Escaller D, Serres C, David G (1983). "Motility of human sperm without outer dynein arms.". J. Submicrosc. Cytol. 15 (1): 67–71. PMID 6221120.
- Vaughan KT, Mikami A, Paschal BM; et al. (1997). "Multiple mouse chromosomal loci for dynein-based motility.". Genomics 36 (1): 29–38. doi:10.1006/geno.1996.0422. PMID 8812413.
- Neesen J, Koehler MR, Kirschner R; et al. (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.
- Nagase T, Kikuno R, Nakayama M; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
- Omran H, Häffner K, Völkel A; et al. (2000). "Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene". Am. J. Respir. Cell Mol. Biol. 23 (5): 696–702. doi:10.1165/ajrcmb.23.5.4257. PMID 11062149.
- 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.
- Horváth J, Fliegauf M, Olbrich H; et al. (2005). "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients". Am. J. Respir. Cell Mol. Biol. 33 (1): 41–7. doi:10.1165/rcmb.2004-0335OC. PMID 15845866.
- Olbrich H, Horváth J, Fekete A; et al. (2006). "Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia". Pediatr. Res. 59 (3): 418–22. doi:10.1203/01.pdr.0000200809.21364.e2. PMID 16492982.
- Hornef N, Olbrich H, Horvath J; et al. (2006). "DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects". Am. J. Respir. Crit. Care Med. 174 (2): 120–6. doi:10.1164/rccm.200601-084OC. PMC 2662904. PMID 16627867.
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