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DNAH5

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
DNAH5
Identifiers
AliasesDNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDsOMIM:603335;MGI:107718;HomoloGene:1048;GeneCards:DNAH5;OMA:DNAH5 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for DNAH5
Genomic location for DNAH5
Band5p15.2Start13,690,328bp[1]
End14,011,818bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for DNAH5
Genomic location for DNAH5
Band15 B1|15 10.9 cMStart28,203,898bp[2]
End28,472,198bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bronchial epithelial cell

  • mucosa of paranasal sinus

  • epithelium of nasopharynx

  • olfactory zone of nasal mucosa

  • nasal epithelium

  • right uterine tube

  • pancreatic ductal cell

  • testicle

  • gonad

  • islet of Langerhans
Top expressed in
  • olfactory epithelium

  • lumbar spinal ganglion

  • secondary oocyte

  • right lung

  • dentate gyrus of hippocampal formation granule cell

  • spermatid

  • right lung lobe

  • primary visual cortex

  • triceps brachii muscle

  • trachea
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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 MbChr 15: 28.2 – 28.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dynein axonemal heavy chain 5 is aprotein that in humans is encoded by theDNAH5gene.[5][6][7]

DNAH5 is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to amicrotubule-associated protein complex made of heavy, light and intermediate chains.2DNAH5 is responsible for making the heavy chain 5, found within the outerdynein arms ofcilia.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 internalleft-right asymmetry.3Mutations inDNAH5 are linked toprimary ciliary dyskinesia, an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrentrespiratory infections,infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomizedleft-right asymmetry.4

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000039139Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000022262Ensembl, 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]

External links

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Further reading

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  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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