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].
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000114841 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000019027 - 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.
^ "Entrez Gene: Dynein axonemal heavy chain 1". Retrieved 2017-11-06.
Further readingedit
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. PMC2682905. 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. PMC2691479. 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. PMC3882734. 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. PMC4422061. 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 on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.
dnah1, dynein, axonemal, heavy, chain, protein, that, humans, encoded, gene, identifiersaliases, dnahc1, hdhc7, hl11, hsrf, xlhsrf, dynein, axonemal, heavy, chain, spgf18, cild37external, idsomim, 603332, 107721, homologene, 67131, genecards, gene, location, h. Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene 5 DNAH1IdentifiersAliasesDNAH1 DNAHC1 HDHC7 HL 11 HL11 HSRF 1 XLHSRF 1 dynein axonemal heavy chain 1 SPGF18 CILD37External IDsOMIM 603332 MGI 107721 HomoloGene 67131 GeneCards DNAH1Gene location Human Chr Chromosome 3 human 1 Band3p21 1Start52 316 319 bp 1 End52 400 492 bp 1 Gene location Mouse Chr Chromosome 14 mouse 2 Band14 B 14 19 1 cMStart30 982 332 bp 2 End31 045 853 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright uterine tubebronchial epithelial cellright lobe of liverbone marrow cellsspleenspermsural nervebloodBrodmann area 9right lungTop expressed inspermatocytearcuate nucleusseminiferous tubulespermatidsupraoptic nucleusmedian eminenceparaventricular nucleus of hypothalamusventromedial nucleusvas deferensdorsomedial hypothalamic nucleusMore reference expression dataBioGPSn aGene ontologyMolecular functionmicrotubule 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 bindingCellular componentcytoplasm inner dynein arm cell projection cilium axonemal dynein complex microtubule cytoskeleton dynein complex axoneme motile cilium sperm flagellum extracellular regionBiological processmicrotubule 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 motilitySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez25981110084EnsemblENSG00000114841ENSMUSG00000019027UniProtQ9P2D7E9Q8T7RefSeq mRNA NM 015512NM 001033668RefSeq protein NP 056327NP 001028840Location UCSC Chr 3 52 32 52 4 MbChr 14 30 98 31 05 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThis 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 edit a b c GRCh38 Ensembl release 89 ENSG00000114841 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000019027 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 Entrez Gene Dynein axonemal heavy chain 1 Retrieved 2017 11 06 Further reading editZuccarello 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 Skanland SS Walchli 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 Karaouzene 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 Toure 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 nbsp This article on a gene on human chromosome 3 is a stub You can help Wikipedia by expanding it vte This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title DNAH1 amp oldid 1188050724, wikipedia, wiki, book, books, library,
