Protein-coding gene in the species Homo sapiens
DNAH1 |
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Identifiers |
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Aliases | DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37 |
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External IDs | OMIM: 603332; MGI: 107721; HomoloGene: 67131; GeneCards: DNAH1; OMA:DNAH1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 3 (human)[1] |
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| Band | 3p21.1 | Start | 52,316,319 bp[1] |
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End | 52,400,492 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 14 (mouse)[2] |
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| Band | 14 B|14 19.1 cM | Start | 30,982,332 bp[2] |
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End | 31,045,853 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - spermatocyte
- arcuate nucleus
- seminiferous tubule
- spermatid
- supraoptic nucleus
- median eminence
- paraventricular nucleus of hypothalamus
- ventromedial nucleus
- vas deferens
- dorsomedial hypothalamic nucleus
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 3: 52.32 – 52.4 Mb | Chr 14: 30.98 – 31.05 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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. 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.