DNAH5

Last updated
DNAH5
Identifiers
Aliases DNAH5 , CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDs OMIM: 603335 MGI: 107718 HomoloGene: 1048 GeneCards: DNAH5
Orthologs
SpeciesHumanMouse
Entrez

1767

110082

Ensembl

ENSG00000039139

ENSMUSG00000022262

UniProt

Q8TE73

Q8VHE6

RefSeq (mRNA)

NM_001369

NM_133365

RefSeq (protein)

NP_001360

NP_579943

Location (UCSC) Chr 5: 13.69 – 14.01 Mb Chr 15: 28.2 – 28.47 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene. [5] [6] [7]

Contents

DNAH5 is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.2DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.3

During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.3 Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.4

Related Research Articles

Cilium Organelle found on eukaryotic cells

The cilium, plural cilia is a membrane-bound organelle found on most types of 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">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.

CENPF Centromere- and microtubule-associated protein

Centromere protein F is a protein that in humans is encoded by the CENPF gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.

DYNC1H1 Protein-coding gene in the species Homo sapiens

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.

DYNC2H1

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

<span class="mw-page-title-main">DNAH9</span>

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

DNAI1 Protein-coding gene in the species Homo sapiens

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

DNAH11 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.

LRRC50

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

RSPH9 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.

RSPH4A 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.

DNAI2

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.

NME8

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene on chromosome 7.

Dynein axonemal light chain 1 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.

DNAAF2 Protein-coding gene in the species Homo sapiens

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

RSPH1 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.

DNAH7 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.

Dynein, axonemal, heavy chain 14 Protein-coding gene in the species Homo sapiens

Dynein, axonemal, heavy chain 14 is a protein that in humans is encoded by the DNAH14 gene.

CCDC40 (gene)

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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000039139 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022262 - 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. ↑ Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S (Sep 1997). "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment". FEBS Lett. 412 (2): 325–30. doi:10.1016/S0014-5793(97)00800-4. PMID   9256245. S2CID   23935907.
  6. ↑ Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H (Jan 2002). "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry". Nat Genet. 30 (2): 143–4. doi:10.1038/ng817. PMID   11788826. S2CID   1603234.
  7. ↑ "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5".

[1] [2] [3] [4]

Further reading


  1. ↑ DNAH5 gene - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/DNAH5. Accessed April 15, 2019.
  2. ↑ Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatric Pulmonology. 2012;47(9):864-875. doi:10.1002/ppul.22520.
  3. ↑ Andjelkovic M, Minic P, Vreca M, et al. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLOS ONE. 2018;13(10). doi:10.1371/journal.pone.0205422.
  4. ↑ Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. Journal of Assisted Reproduction and Genetics. 2016;34(2):275-281. doi:10.1007/s10815-016-0849-3.
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