DNAH1
| DNAH1 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 3: 52.32 – 52.4 Mb | Chr 14: 30.98 – 31.05 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene. [5]
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
- ^ 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
- 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. 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. 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. 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. 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. 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. PMID 27573432.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.