DNAH5

DNAH5
Identifiers
Aliases	DNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDs	OMIM: 603335 MGI: 107718 HomoloGene: 1048 GeneCards: DNAH5
Gene location (Human)
Chr.	Chromosome 5 (human)[1]
End	14,011,818 bp[1]
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)[2]
End	28,472,198 bp[2]
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; right uterine tube; ; pancreatic ductal cell; ; islet of Langerhans; ; trachea; ; lower lobe of lung; ; caput epididymis; ; right lung; ; Achilles tendon; ; germinal epithelium;
	Top expressed in
	olfactory epithelium; ; secondary oocyte; ; right lung; ; spermatid; ; right lung lobe; ; triceps brachii muscle; ; trachea; ; superior frontal gyrus; ; hippocampus proper; ; ovary;
	More reference expression data
	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
	1767
	110082
	ENSG00000039139
	ENSMUSG00000022262
	Q8TE73
	Q8VHE6
	NM_001369
	NM_133365
	NP_001360
	NP_579943
	Wikidata
View/Edit Human	View/Edit Mouse

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.[5][6][7]

DNAH5 is a protein-coding gene.¹ It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.² DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.¹ It will function as a force generating protein by using ATP, producing the power stroke for cilia.³

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.³ Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.⁴ This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.¹ Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.⁴

References

GRCh38: Ensembl release 89: ENSG00000039139 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000022262 - Ensembl, May 2017
"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.
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.
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.
"Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5".

[1] [2] [3] [4]

External links

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

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.

DNAH5 gene - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/DNAH5. Accessed April 15, 2019.
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.
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.
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000039139 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9256245-5] 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.

[pmid11788826-6] 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.

[entrez-7] "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5".

[8] DNAH5 gene - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/DNAH5. Accessed April 15, 2019.

[9] 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.

[10] 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.

[11] 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.

DNAH5

References

External links

Further reading