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DNAH5
Identifiers
Aliases	DNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDs	OMIM: 603335; MGI: 107718; HomoloGene: 1048; GeneCards: DNAH5; OMA:DNAH5 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5p15.2 Start 13,690,328 bp End 14,011,818 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 B1|15 10.9 cM Start 28,203,898 bp End 28,472,198 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell mucosa of paranasal sinus epithelium of nasopharynx olfactory zone of nasal mucosa nasal epithelium right uterine tube pancreatic ductal cell testicle gonad islet of Langerhans Top expressed in olfactory epithelium lumbar spinal ganglion secondary oocyte right lung dentate gyrus of hippocampal formation granule cell spermatid right lung lobe primary visual cortex triceps brachii muscle trachea More reference expression data BioGPS n/a
Gene ontology Molecular function 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 microtubule motor activity Cellular component cytoplasm cell projection cilium dynein complex microtubule outer dynein arm cytoskeleton axoneme 9+2 motile cilium axonemal dynein complex extracellular region Biological process flagellated sperm motility outer dynein arm assembly microtubule-based movement cilium assembly cilium movement determination of left/right symmetry heart development lateral ventricle development epithelial cilium movement involved in extracellular fluid movement Sources:Amigo / QuickGO
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 – 14.01 Mb Chr 15: 28.2 – 28.47 Mb PubMed search
Wikidata
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Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.

DNAH5 is a protein-coding gene. It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains. DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia. It will function as a force generating protein by using ATP, producing the power stroke for cilia.

During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry. Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder. This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement. Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000039139 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000022262 – 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. 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. S2CID 23935907.
6. 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. S2CID 1603234.
7. "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5".

External links

• GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia

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.

This article on a gene on human chromosome 5 is a stub. You can help Misplaced Pages by expanding it.

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1. DNAH5 gene - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/DNAH5. Accessed April 15, 2019.
2. Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatric Pulmonology. 2012;47(9):864-875. doi:10.1002/ppul.22520.
3. Andjelkovic M, Minic P, Vreca M, et al. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLOS ONE. 2018;13(10). doi:10.1371/journal.pone.0205422.
4. Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. Journal of Assisted Reproduction and Genetics. 2016;34(2):275-281. doi:10.1007/s10815-016-0849-3.

• Genes on human chromosome 5
• Human chromosome 5 gene stubs