DNAH1

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene. [5]

DNAH1
Identifiers
Aliases	DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37
External IDs	OMIM: 603332 MGI: 107721 HomoloGene: 67131 GeneCards: DNAH1
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.1 Start 52,316,319 bp[1] End 52,400,491 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 B|14 19.1 cM Start 31,260,375 bp[2] End 31,323,896 bp[2]
Gene ontology Molecular function • microtubule motor activity • nucleotide binding • ATPase activity • cellular motor activity • ATP binding • ATP-dependent microtubule motor activity, minus-end-directed • dynein light chain binding • dynein intermediate chain binding • dynein light intermediate chain binding Cellular component • cytoplasm • inner dynein arm • cell projection • cilium • axonemal dynein complex • microtubule • cytoskeleton • dynein complex • GO:0035085 axoneme • motile cilium • sperm flagellum • extracellular region Biological process • microtubule-based movement • inner dynein arm assembly • cilium-dependent cell motility • cilium movement • sperm axoneme assembly • epithelial cilium movement • flagellated sperm motility • cilium movement involved in cell motility Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	25981	110084
Ensembl	ENSG00000114841	ENSMUSG00000019027
UniProt	Q9P2D7	E9Q8T7
RefSeq (mRNA)	NM_015512	NM_001033668
RefSeq (protein)	NP_056327	NP_001028840
Location (UCSC)	Chr 3: 52.32 – 52.4 Mb	Chr 14: 31.26 – 31.32 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017].

References

1. GRCh38: Ensembl release 89: ENSG00000114841 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000019027 - 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. "Entrez Gene: Dynein axonemal heavy chain 1". Retrieved 2017-11-06.

Further reading

• Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C (2008). "Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia". Hum. Reprod. 23 (8): 1957–62. doi:10.1093/humrep/den193. PMID 18492703.
• Lehmann M, Milev MP, Abrahamyan L, Yao XJ, Pante N, Mouland AJ (2009). "Intracellular transport of human immunodeficiency virus type 1 genomic RNA and viral production are dependent on dynein motor function and late endosome positioning". J. Biol. Chem. 284 (21): 14572–85. doi:10.1074/jbc.M808531200. PMC 2682905. PMID 19286658.
• Skånland SS, Wälchli S, Brech A, Sandvig K (2009). "SNX4 in complex with clathrin and dynein: implications for endosome movement". PLoS ONE. 4 (6): e5935. doi:10.1371/journal.pone.0005935. PMC 2691479. PMID 19529763.
• Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF (2014). "Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella". Am. J. Hum. Genet. 94 (1): 95–104. doi:10.1016/j.ajhg.2013.11.017. PMC 3882734. PMID 24360805.
• Imtiaz F, Allam R, Ramzan K, Al-Sayed M (2015). "Variation in DNAH1 may contribute to primary ciliary dyskinesia". BMC Med. Genet. 16: 14. doi:10.1186/s12881-015-0162-5. PMC 4422061. PMID 25927852.
• Wang X, Jin H, Han F, Cui Y, Chen J, Yang C, Zhu P, Wang W, Jiao G, Wang W, Hao C, Gao Z (2017). "Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese". Clin. Genet. 91 (2): 313–321. doi:10.1111/cge.12857. PMID 27573432.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.