DNAH5

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DNAH5
Identifiers
AliasesDNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDsMGI: 107718 HomoloGene: 1048 GeneCards: DNAH5
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for DNAH5
Genomic location for DNAH5
Band5p15.2Start13,690,331 bp[1]
End13,944,543 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001369

NM_133365

RefSeq (protein)

NP_001360

NP_579943

Location (UCSC)Chr 5: 13.69 – 13.94 MbChr 15: 28.2 – 28.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

The DNAH5 gene 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.2 The DNAH5 gene 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 of the DNAH5 gene 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


References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000039139 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022262 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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.
  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.
  7. ^ "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5".

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

External links[edit]

Further reading[edit]



  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.