DNAH11

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.[5][6]

DNAH11
Identifiers
Aliases	DNAH11, CILD7, DNAHBL, DNAHC11, DNHBL, DPL11, dynein axonemal heavy chain 11
External IDs	OMIM: 603339 MGI: 1100864 HomoloGene: 2801 GeneCards: DNAH11
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p15.3 Start 21,543,039 bp[1] End 21,901,839 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F2|12 63.25 cM Start 117,877,982 bp[2] End 118,199,043 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • ATP binding • cellular motor activity • nucleotide binding • microtubule motor activity • ATPase activity • ATP-dependent microtubule motor activity, minus-end-directed • dynein light chain binding • dynein intermediate chain binding • dynein light intermediate chain binding Cellular component • cell projection • cytoplasm • microtubule • cilium • cytoskeleton • dynein complex • motile cilium • GO:0035085 axoneme • 9+0 motile cilium • 9+2 motile cilium • proximal portion of axoneme • extracellular region Biological process • regulation of cilium beat frequency • microtubule-based movement • cilium movement • flagellated sperm motility • determination of left/right symmetry • heart development • epithelial cilium movement • learning or memory • determination of left/right asymmetry in nervous system • epithelial cilium movement involved in determination of left/right asymmetry • sperm flagellum movement involved in flagellated sperm motility • cardiac septum development • cardiac septum morphogenesis • determination of heart left/right asymmetry Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8701	13411
Ensembl	ENSG00000105877	ENSMUSG00000018581
UniProt	Q96DT5	n/a
RefSeq (mRNA)	NM_001277115	NM_010060
RefSeq (protein)	NP_001264044	n/a
Location (UCSC)	Chr 7: 21.54 – 21.9 Mb	Chr 12: 117.88 – 118.2 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing primary ciliary dyskinesia (PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (PCD with situs inversus totalis). Males with PCD are not sterile, but are infertile due to lack of sperm motility.[6] There are reports of subfertility and increased risk of ectopic pregnancy in women with PCD.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000105877 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000018581 - 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.
6. "Entrez Gene: DNAH11 dynein, axonemal, heavy chain 11".
7. Blyth M, Wellesley D (April 2008). "Ectopic pregnancy in primary ciliary dyskinesia". J Obstet Gynaecol. 28 (3): 358. doi:10.1080/01443610802058742. PMID 18569496.

Further reading

• Schwabe GC, Hoffmann K, Loges NT, et al. (2008). "Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations". Hum. Mutat. 29 (2): 289–98. doi:10.1002/humu.20656. PMID 18022865.
• Cheung PY, Zhang Y, Long J, et al. (2004). "p150(Glued), Dynein, and microtubules are specifically required for activation of MKK3/6 and p38 MAPKs". J. Biol. Chem. 279 (44): 45308–11. doi:10.1074/jbc.C400333200. PMID 15375157.
• Varadi A, Johnson-Cadwell LI, Cirulli V, et al. (2005). "Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1". J. Cell Sci. 117 (Pt 19): 4389–400. doi:10.1242/jcs.01299. PMID 15304525.
• 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.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
• Bartoloni L, Blouin JL, Pan Y, et al. (2002). "Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia". Proc. Natl. Acad. Sci. U.S.A. 99 (16): 10282–6. doi:10.1073/pnas.152337699. PMC 124905. PMID 12142464.
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• 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.

External links

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