DNAH1

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) Band 3p21.1 Start 52,316,319 bp End 52,400,492 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14 B|14 19.1 cM Start 30,982,332 bp End 31,045,853 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell right lobe of liver bone marrow cells spleen sperm sural nerve blood Brodmann area 9 right lung Top expressed in spermatocyte arcuate nucleus seminiferous tubule spermatid supraoptic nucleus median eminence paraventricular nucleus of hypothalamus ventromedial nucleus vas deferens dorsomedial hypothalamic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function microtubule motor activity 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 Cellular component cytoplasm inner dynein arm cell projection cilium axonemal dynein complex microtubule cytoskeleton dynein complex 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 involved in extracellular fluid 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: 30.98 – 31.05 Mb PubMed search
Wikidata
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Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

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].

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. Bibcode:2009PLoSO...4.5935S. 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.