DNAH1: Difference between revisions

DNAH1
Symbol	DNAH1
HGNC ID	2950
Alternative symbols	–
Entrez Gene	27028
OMIM	603332
RefSeq	NM_015512
UniProt	Q9NYC9
Chromosome	3p21.1
Locus supplementary data	–

Latest revision as of 17:35, 30 December 2024

DNAH1 (Dynein Axonemal Heavy Chain 1) is a protein-coding gene in humans. It is part of the dynein family, which are motor proteins that convert chemical energy stored in ATP into mechanical work. This gene is located on the short arm of chromosome 3 at position 21.1.

Function[edit]

DNAH1 encodes a heavy chain subunit of axonemal dynein, which is a component of the axoneme in ciliary and flagellar structures. Dyneins are responsible for the sliding movement of microtubules within these structures, which is essential for ciliary motility and flagellar motility.

Clinical Significance[edit]

Mutations in the DNAH1 gene have been associated with primary ciliary dyskinesia (PCD), a condition characterized by chronic respiratory tract infections, abnormal sperm motility, and infertility. This is due to the impaired function of cilia and flagella, which are crucial for the movement of mucus in the respiratory tract and the propulsion of sperm.

Research[edit]

Studies have shown that DNAH1 mutations can lead to male infertility due to asthenozoospermia, a condition where sperm have reduced motility. Research is ongoing to better understand the role of DNAH1 in ciliary function and its implications in human health.

References[edit]

External Links[edit]

@@ Line 1: / Line 1: @@
-'''DNAH1''' is a gene that encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been associated with primary ciliary dyskinesia.
-==Structure==
+{{Infobox gene
-The '''DNAH1''' gene is located on the q arm of chromosome 3 in position 21.1 and spans 79.5 kilobases. The gene produces a 4.6 kDa protein composed of 4286 amino acids. The structure of the protein includes an N-terminal stem domain, which is followed by a linker region, a coiled-coil domain, and six AAA+ ATPase domains. The C-terminal region contains a microtubule-binding stalk and a microtubule-binding domain.
+| name = DNAH1
+| caption = Dynein axonemal heavy chain 1
+| symbol = DNAH1
+| HGNCid = 2950
+| OMIM = 603332
+| EntrezGene = 27028
+| RefSeq = NM_015512
+| UniProt = Q9NYC9
+| chromosome = 3
+| arm = p
+| band = 21.1
+}}
-==Function==
+'''DNAH1''' (Dynein Axonemal Heavy Chain 1) is a protein-coding gene in humans. It is part of the [[dynein]] family, which are motor proteins that convert chemical energy stored in [[ATP]] into mechanical work. This gene is located on the short arm of [[chromosome 3]] at position 21.1.
-The '''DNAH1''' protein is a component of the outer dynein arm in the cilia and flagella, which are hair-like structures that protrude from the surface of cells and are involved in cellular movement and signal transduction. The protein functions as a force-generating machine that uses ATP hydrolysis to move along microtubules in cells. It plays a crucial role in the movement of cilia and flagella and is essential for normal ciliary function.
-==Clinical Significance==
+== Function ==
-Mutations in the '''DNAH1''' gene have been associated with [[primary ciliary dyskinesia]], a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children. The mutations cause the cilia to be immotile or to beat abnormally, impairing their function.
+DNAH1 encodes a heavy chain subunit of axonemal dynein, which is a component of the [[axoneme]] in [[ciliary]] and [[flagellar]] structures. Dyneins are responsible for the sliding movement of [[microtubules]] within these structures, which is essential for [[ciliary motility]] and [[flagellar motility]].
-==Research==
+== Clinical Significance ==
-Research is ongoing to understand the role of '''DNAH1''' in ciliary function and its implications in disease. Studies have shown that mutations in this gene can lead to a variety of ciliary dysfunctions, suggesting that it may be a potential therapeutic target for diseases associated with ciliary dysfunction.
+Mutations in the DNAH1 gene have been associated with [[primary ciliary dyskinesia]] (PCD), a condition characterized by chronic respiratory tract infections, abnormal [[sperm motility]], and [[infertility]]. This is due to the impaired function of cilia and flagella, which are crucial for the movement of mucus in the respiratory tract and the propulsion of sperm.
-[[File:DNAH1 gene location on human chromosome 3.png|thumb|right|300px|Location of the DNAH1 gene on chromosome 3]]
+== Research ==
+Studies have shown that DNAH1 mutations can lead to [[male infertility]] due to [[asthenozoospermia]], a condition where sperm have reduced motility. Research is ongoing to better understand the role of DNAH1 in ciliary function and its implications in human health.
-==See Also==
+== See Also ==
 * [[Dynein]]
+* [[Cilia]]
+* [[Flagella]]
 * [[Primary ciliary dyskinesia]]
-* [[Microtubule]]
-* [[ATPase]]
-==References==
+== References ==
 <references />
-[[Category:Genes]]
+== External Links ==
-[[Category:Human proteins]]
+* [https://www.ncbi.nlm.nih.gov/gene/27028 DNAH1 Gene - NCBI]
-[[Category:Microtubule-associated proteins]]
+* [https://www.omim.org/entry/603332 DNAH1 - OMIM]
-{{Genes on human chromosome 3}}
-{{medicine-stub}}
+[[Category:Genes on human chromosome 3]]
+[[Category:Motor proteins]]
+[[Category:Infertility]]
+[[Category:Primary ciliary dyskinesia]]