DNAI1

Last updated
DNAI1
Identifiers
Aliases DNAI1 , CILD1, DIC1, ICS1, PCD, dynein axonemal intermediate chain 1
External IDs OMIM: 604366 MGI: 1916172 HomoloGene: 8122 GeneCards: DNAI1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001281428
NM_012144

NM_175138

RefSeq (protein)

NP_001268357
NP_036276

NP_780347

Location (UCSC) Chr 9: 34.46 – 34.52 Mb Chr 4: 41.57 – 41.64 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Dynein axonemal intermediate chain 1 is a protein that in humans is encoded by the DNAI1 gene. [5] [6]

Contents

The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome. The DNAI1 gene is involved in the development of proper respiratory function, motility of spermatozoa, and asymmetrical organization of the viscera during embryogenesis. This gene affects these three very different aspects of development because all three are dependent on proper cilia function. DNAI1 codes for the development of cilia ultrastructure in the upper and lower respiratory tracts, spermatozoa flagellae, and nodal cilia (cilia of the primitive node). DNAI1 specifically encodes for an intermediate chain of the outer dynein arm. Each dynein arm of the ciliary axoneme has an inner and outer dynein arm. A mutation in DNAI1 can lead to defective ciliary beating. A DNAI1 gene mutation accounts for 4-10% of all cases of primary ciliary dyskensia (PCD). The most frequent structural defect in cilia of PCD patients are abnormal dynein arms. A common mutation of DNAI1 leading to PCD is a hot-spot mutation in intron 1 of the gene. Mutations in coding or splicing are only found in 10% of PCD cases. [6]

Related Research Articles

<span class="mw-page-title-main">Cilium</span> Organelle found on eukaryotic cells

The cilium, plural cilia is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion.

<span class="mw-page-title-main">Dynein</span> Class of enzymes

Dyneins are a family of cytoskeletal motor proteins that move along microtubules in cells. They convert the chemical energy stored in ATP to mechanical work. Dynein transports various cellular cargos, provides forces and displacements important in mitosis, and drives the beat of eukaryotic cilia and flagella. All of these functions rely on dynein's ability to move towards the minus-end of the microtubules, known as retrograde transport; thus, they are called "minus-end directed motors". In contrast, most kinesin motor proteins move toward the microtubules' plus-end, in what is called anterograde transport.

<span class="mw-page-title-main">Primary ciliary dyskinesia</span> Medical condition

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome.

<span class="mw-page-title-main">Axoneme</span>

An axoneme, also called an axial filament is the microtubule-based cytoskeletal structure that forms the core of a cilium or flagellum. Cilia and flagella are found on many cells, organisms, and microorganisms, to provide motility. The axoneme serves as the "skeleton" of these organelles, both giving support to the structure and, in some cases, the ability to bend. Though distinctions of function and length may be made between cilia and flagella, the internal structure of the axoneme is common to both.

<span class="mw-page-title-main">Intraflagellar transport</span>

Intraflagellar transport (IFT) is a bidirectional motility along axoneme microtubules that is essential for the formation (ciliogenesis) and maintenance of most eukaryotic cilia and flagella. It is thought to be required to build all cilia that assemble within a membrane projection from the cell surface. Plasmodium falciparum cilia and the sperm flagella of Drosophila are examples of cilia that assemble in the cytoplasm and do not require IFT. The process of IFT involves movement of large protein complexes called IFT particles or trains from the cell body to the ciliary tip and followed by their return to the cell body. The outward or anterograde movement is powered by kinesin-2 while the inward or retrograde movement is powered by cytoplasmic dynein 2/1b. The IFT particles are composed of about 20 proteins organized in two subcomplexes called complex A and B.

<span class="mw-page-title-main">DYNC2H1</span>

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.

<span class="mw-page-title-main">DNAH5</span>

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.

<span class="mw-page-title-main">DNAH9</span> Protein-coding gene in the species Homo sapiens

Dynein heavy chain 9, axonemal is a protein that in humans is encoded by the DNAH9 gene.

<span class="mw-page-title-main">DNAH11</span> Protein-coding gene in the species Homo sapiens

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.

<span class="mw-page-title-main">LRRC50</span>

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.

<span class="mw-page-title-main">RSPH9</span> Protein-coding gene in the species Homo sapiens

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.

<span class="mw-page-title-main">RSPH4A</span> Protein-coding gene in the species Homo sapiens

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.

<span class="mw-page-title-main">DNAI2</span> Protein-coding gene in the species Homo sapiens

Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.

<span class="mw-page-title-main">Dynein axonemal light chain 1</span> Protein-coding gene in the species Homo sapiens

Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene.

<span class="mw-page-title-main">DNAAF2</span> Protein-coding gene in the species Homo sapiens

Kintoun, is a protein that is encoded by the DNAAF2 gene.

<span class="mw-page-title-main">RSPH1</span> Protein-coding gene in the species Homo sapiens

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.

<span class="mw-page-title-main">DNAH7</span> Protein-coding gene in the species Homo sapiens

Dynein, axonemal, heavy chain 7 is a protein in humans that is encoded by the DNAH7 gene.

<span class="mw-page-title-main">CCDC40 (gene)</span> Protein-coding gene in the species Homo sapiens

CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.

<span class="mw-page-title-main">DNAH1</span>

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

<span class="mw-page-title-main">Pleasantine Mill</span> Canadian biologist

Pleasantine Mill is a cell biologist and group leader at the MRC Human Genetics Unit at the University of Edinburgh. She won the 2018 British Society for Cell Biology Women in Cell Biology Early Career Medal.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000122735 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000061322 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B (Jan 2000). "Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia". American Journal of Human Genetics. 65 (6): 1508–19. doi:10.1086/302683. PMC   1288361 . PMID   10577904.
  6. 1 2 "Entrez Gene: DNAI1 dynein, axonemal, intermediate chain 1".

Further reading